>>1
LOCUSID: 1
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_130786|21071029|na
NP: NP_570602|21071030
CDD: Immunoglobulin C-2 Type|smart00408|104|na|4.466900e+01
PRODUCT: alpha 1B-glycoprotein
ASSEMBLY: AF414429,AK055885,AK056201
CONTIG: NT_011104.11|20544099|na|1555258|1566315|+|19
EVID: supported by alignment with mRNA
XM: XM_058938|20544041|na
XP: XP_058938|17482319|na
CDD: Immunoglobulin C-2 Type|smart00408|104|6.130e-06|44.669
ACCNUM: AC010642|9929687|na|43581|41119
TYPE: g
ACCNUM: AA484435|2213248|na|na|na
TYPE: m
ACCNUM: AF414429|15778555|na|na|na
TYPE: m
PROT: AAL07469|15778556
ACCNUM: AI022193|3239546|na|na|na
TYPE: m
ACCNUM: AK055885|16550723|na|na|na
TYPE: m
ACCNUM: AK056201|16551539|na|na|na
TYPE: m
ACCNUM: T80683|703568|na|na|na
TYPE: m
ACCNUM: W25099|1302954|na|na|na
TYPE: m
OFFICIAL_SYMBOL: A1BG
OFFICIAL_GENE_NAME: alpha-1-B glycoprotein
ALIAS_SYMBOL: A1B
ALIAS_SYMBOL: ABG
ALIAS_SYMBOL: GAB
PREFERRED_PRODUCT: alpha 1B-glycoprotein
SUMMARY: Summary: The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins.
CHR: 19
STS: RH65092|-|10673|na|na|epcr
STS: WI-16009|-|52209|na|na|epcr
STS: G59506|-|136670|na|na|epcr
COMP: 10090|A1bg|na|na|117586|19|A1BG|ncbi_mgd
COMP: 10090|A1bg|7|7  cM|117586|19|A1BG|ncbi_mgd
UNIGENE: Hs.373554
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=373554
OMIM: 138670
MAP: 19q13.4|RefSeq|C|
MAPLINK: default_human_gene|A1BG
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=1
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=1[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119638
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_130786
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_130786
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?A1BG
PMID: 8889549,3458201,2591067
>>2
LOCUSID: 2
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000014|6226959|na
NP: NP_000005|4557225
CDD: Ependymins|EPEND|86|na|3.773540e+01
CDD: Alpha-2-macroglobulin family|pfam00207|2501|na|9.679920e+02
CDD: Alpha-2-macroglobulin family N-terminal region|pfam01835|1889|na|7.322500e+02
PRODUCT: alpha 2 macroglobulin precursor
ASSEMBLY: M11313
CONTIG: NT_009702.9|20554950|na|365512|413776|+|12
EVID: supported by alignment with mRNA
XM: XM_006925|18580498|na
XP: XP_006925|17455493|na
CDD: Alpha-2-macroglobulin family|pfam00207|2449|0.000e+00|947.962
CDD: Alpha-2-macroglobulin family N-terminal region|pfam01835|1931|0.000e+00|748.429
ACCNUM: X68728|450521|na|na|na
TYPE: g
PROT: CAA48670|825615
ACCNUM: Z11711|24760|na|na|na
TYPE: g
PROT: CAA77774|24761
ACCNUM: M11313|177869|na|na|na
TYPE: m
PROT: AAA51551|177870
ACCNUM: M36501|177871|na|na|na
TYPE: m
PROT: AAA51552|177872
OFFICIAL_SYMBOL: A2M
OFFICIAL_GENE_NAME: alpha-2-macroglobulin
PREFERRED_PRODUCT: alpha 2 macroglobulin precursor
SUMMARY: Summary: Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits.
CHR: 12
STS: SGC31674|12|40245|na|na|epcr
STS: RH11157|12|46849|na|na|epcr
STS: G44356|12|95143|na|seq_map|epcr
COMP: 10090|A2m|6|6 62.00 cM|11287|12|A2M|ncbi_mgd
COMP: 10090|A2m|6|6 62.00 cM|11287|12|A2M|ucsc_mgd
UNIGENE: Hs.74561
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=74561
OMIM: 103950
MAP: 12p13.3-p12.3|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119639">HUGO</a>|C|
MAPLINK: default_human_gene|A2M
PHENOTYPE: Alzheimer disease, susceptibility to
PHENOTYPE_ID: 103950
PHENOTYPE: Emphysema due to alpha-2-macroglobulin deficiency
PHENOTYPE_ID: 103950
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=2
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=2[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119639
BUTTON: hgmd.gif
LINK: http://www.uwcm.ac.uk/uwcm/mg/search/119639.html
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000014
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_000014
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?A2M
PMID: 11823454,11811950,2581245,2408344,1707161,1370808,1281457
GRIF: 11811950|Differential binding to ldl receptor related protein
GRIF: 11823454|distinct binding sites mediate interaction with beta-amyloid peptide and growth factors
SUMFUNC: Alpha-2-macroglobulin; protease inhibitor, binds/aids in cellular internalization of proteins|Proteome
GO: molecular function|protein carrier|NR|GO:0008320|Proteome|na
GO: molecular function|proteinase inhibitor|NR|GO:0004866|Proteome|na
GO: biological process|intracellular protein traffic|NR|GO:0006886|Proteome|na
EXTANNOT: organismal role|CNS-specific functions|NR|Proteome|1281457
EXTANNOT: biochemical function|Inhibitor or repressor|NR|Proteome|1281457
>>3
LOCUSID: 3
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
STATUS: REVIEWED
ACCNUM: M24415|187575|na|177|2881
TYPE: g
OFFICIAL_SYMBOL: A2MP
OFFICIAL_GENE_NAME: alpha-2-macroglobulin pseudogene
CHR: 12
MAP: 12p13.3-p12.3|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:128103">HUGO</a>|C|
MAPLINK: default_human_cyto|A2MP
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:128103
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?A2MP
PMID: 2478422
>>8
LOCUSID: 8
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AA
OFFICIAL_GENE_NAME: atrophia areata, peripapillary chorioretinal degeneration
CHR: 11
OMIM: 108985
MAP: 11p15|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:568984">HUGO</a>|C|
MAPLINK: default_human_cyto|AA
PHENOTYPE: Atrophia areata
PHENOTYPE_ID: 108985
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:568984
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AA
PMID: 7795606
>>9
LOCUSID: 9
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: PROVISIONAL
NM: NM_000662|21361196|na
NP: NP_000653|4505335
CDD: N-acetyltransferase|pfam00797|1030|na|4.056250e+02
PRODUCT: N-acetyltransferase 1
ASSEMBLY: BC013732
CONTIG: NT_030737.3|20541522|na|1907807|1921012|+|8
EVID: supported by alignment with mRNA
XM: NM_000662|21361196|na
XP: NP_000653|4505335|na
ACCNUM: AF008204|2618821|na|na|na
TYPE: g
PROT: AAB84384|2258431
ACCNUM: AF032677|2641552|na|na|na
TYPE: g
PROT: AAB86878|2641553
ACCNUM: AF032678|2641554|na|na|na
TYPE: g
PROT: AAB86879|2641555
ACCNUM: AF067408|3265061|na|na|na
TYPE: g
PROT: AAC24707|3265062
ACCNUM: AF071552|3265151|na|na|na
TYPE: g
PROT: AAC24712|3265152
ACCNUM: AF082903|3435297|na|na|na
TYPE: g
PROT: AAD13343|3435298
ACCNUM: AF082904|3435299|na|na|na
TYPE: g
PROT: AAC32388|3435300
ACCNUM: U80835|2245375|na|na|na
TYPE: g
PROT: AAB62398|2245376
ACCNUM: X17059|34993|na|na|na
TYPE: g
PROT: CAA34905|34994
ACCNUM: BC013732|16975545|na|na|na
TYPE: m
PROT: AAH13732|16975546
ACCNUM: D90041|219413|na|na|na
TYPE: m
PROT: BAA14095|219414
OFFICIAL_SYMBOL: NAT1
OFFICIAL_GENE_NAME: N-acetyltransferase 1 (arylamine N-acetyltransferase)
ALIAS_SYMBOL: AAC1
PREFERRED_PRODUCT: N-acetyltransferase 1
CHR: 8
STS: STS-D90041|8|57372|na|seq_map|epcr
STS: RH70671|8|63787|na|seq_map|epcr
COMP: 10090|Nat1|8|8 31.00 cM|17960|8|NAT1|ncbi_mgd
COMP: 10090|Nat1|8|8 31.00 cM|17960|8|NAT1|ucsc_mgd
COMP: 10090|U35886|8|8 14135.38 cR|17961|8|AW390667|natgen_paper
ALIAS_PROT: arylamine N-acetyltransferase-1
ALIAS_PROT: arylamide acetylase 1 (N-acetyltransferase 1)
UNIGENE: Hs.155956
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=155956
OMIM: 108345
ECNUM: 2.3.1.5
MAP: 8p23.1-p21.3|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125364">HUGO</a>|C|
MAPLINK: default_human_gene|NAT1
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=9
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=9[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125364
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000662
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_000662
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?NAT1
DB_DESCR: Arylamine N-Acetyltransferase Nomenclature
DB_LINK: http://www.louisville.edu/medschool/pharmacology/NAT.html
PMID: 11955677,11955676,10908296,10862520,9168895,7773298,2340091
GRIF: 11955676|paclitaxel is an uncompetitive inhibitor to arylamine N-acetyltransferase (NAT) enzyme
GRIF: 11955677|paclitaxel affected human leukemia HL-60 cells arylamine N-acetyltransferase (NAT) activity and DNA-2-aminofluorene adduct formation.
SUMFUNC: Arylamine N-acetyltransferase 1; N- or O-acetylates arylamines and heterocyclic amines, detoxifies carcinogens and xenobiotics|Proteome
GO: molecular function|arylamine N-acetyltransferase|E|GO:0004060|Proteome|10908296
EXTANNOT: cellular role|Other metabolism|E|Proteome|10908296
EXTANNOT: biochemical function|Transferase|E|Proteome|10908296
>>10
LOCUSID: 10
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000015|4557782|na
NP: NP_000006|4557783
CDD: N-acetyltransferase|pfam00797|838|na|3.274050e+02
PRODUCT: arylamide acetylase 2
ASSEMBLY: D90042
CONTIG: NT_030737.3|20541522|na|2088970|2098897|+|8
EVID: supported by alignment with mRNA
XM: NM_000015|4557782|na
XP: NP_000006|4557783|na
ACCNUM: AF042740|2801806|na|na|na
TYPE: g
PROT: AAC03773|2801807
ACCNUM: AF055874|3063613|na|na|na
TYPE: g
PROT: AAC14117|3063614
ACCNUM: AF055875|3063615|na|na|na
TYPE: g
PROT: AAC14118|3063616
ACCNUM: D10870|219871|na|na|na
TYPE: g
PROT: BAA01640|219872
ACCNUM: D10871|219874|na|na|na
TYPE: g
PROT: BAA01641|219875
ACCNUM: D10872|219877|na|na|na
TYPE: g
PROT: BAA01642|219878
ACCNUM: M75163|189075|na|na|na
TYPE: g
PROT: AAA59906|553602
ACCNUM: M75164|189072|na|na|na
TYPE: g
PROT: AAA59905|553601
ACCNUM: U23052|747646|na|na|na
TYPE: g
PROT: AAA64584|727413
ACCNUM: U23434|727456|na|na|na
TYPE: g
PROT: AAA64585|727457
ACCNUM: U53473|1297331|na|na|na
TYPE: g
PROT: AAA98976|1297332
ACCNUM: X14672|28227|na|na|na
TYPE: g
PROT: CAA32802|28228
ACCNUM: BC015878|16198419|na|na|na
TYPE: m
PROT: AAH15878|16198420
ACCNUM: D90040|219411|na|na|na
TYPE: m
PROT: BAA14094|219412
ACCNUM: D90042|219415|na|na|na
TYPE: m
PROT: BAA14096|219416
OFFICIAL_SYMBOL: NAT2
OFFICIAL_GENE_NAME: N-acetyltransferase 2 (arylamine N-acetyltransferase)
ALIAS_SYMBOL: AAC2
PREFERRED_PRODUCT: arylamide acetylase 2
SUMMARY: Summary: The intronless NAT2 gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2). This enzyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation polymorphism in which human populations segregate into rapid,intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity.A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2.
CHR: 8
STS: G06461|8|17088|na|seq_map|epcr
STS: WIAF-2120|8|44576|na|seq_map|epcr
STS: G59899|8|137181|na|seq_map|epcr
STS: GDB:187676|8|155563|na|seq_map|epcr
STS: GDB:310612|8|156422|na|seq_map|epcr
STS: GDB:310613|8|156423|na|seq_map|epcr
STS: GDB:386004|8|157141|na|seq_map|epcr
COMP: 10090|Nat2|8|8 31.00 cM|17961|8|NAT2|ncbi_mgd
COMP: 10090|Nat2|8|8 31.00 cM|17961|8|NAT2|ucsc_mgd
ALIAS_PROT: Arylamine N-acetyltransferase-2
ALIAS_PROT: arylamide acetylase 2 (N-acetyltransferase 2, isoniazid inactivation)
UNIGENE: Hs.2
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=2
OMIM: 243400
ECNUM: 2.3.1.5
MAP: 8p22|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125365">HUGO</a>|C|
MAPLINK: default_human_gene|NAT2
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=10
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=10[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125365
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000015
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_000015
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?NAT2
BUTTON: mgc.gif
LINK: http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=2
DB_DESCR: Arylamine N-Acetyltransferase Nomenclature
DB_LINK: http://www.louisville.edu/medschool/pharmacology/NAT.html
PMID: 12016157,11915035,11872636,11846845,8460648,8102597,7915226,7773298,2734109,2340091,1968463,1676262,1381364,1306121
GRIF: 11846845|Association between bone loss in periodontal disease and polymorphism of N-acetyltransferase (NAT2)
GRIF: 11915035|Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis.
GRIF: 12016157|urinary excretion of N(2)-(beta-1-glucos-iduronyl)-2-hydroxyamino-1-methyl-6-phenylimidazo[4,5-b]pyridine relationship to activity levels of NAT2
GRIF: 11872636|we investigated the relationship between the levels of aromatic DNA adducts in breast tissues and polymorphisms of the drug-metabolizing genes CYP1A1, NAT2, and GSTM1 in 166 women having breast cancer
SUMFUNC: Arylamine N-acetyltransferase 2; N- or O-acetylates arylamines and heterocyclic amines|Proteome
GO: molecular function|arylamine N-acetyltransferase|E|GO:0004060|Proteome|2340091
EXTANNOT: cellular role|Other metabolism|E|Proteome|2340091
EXTANNOT: biochemical function|Transferase|E|Proteome|2340091
>>11
LOCUSID: 11
LOCUS_CONFIRMED: yes
LOCUS_TYPE: pseudogene
ORGANISM: Homo sapiens
OFFICIAL_SYMBOL: AACP
OFFICIAL_GENE_NAME: arylamide acetylase pseudogene
ALIAS_SYMBOL: NATP
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:132838
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AACP
PMID: 2340091
>>12
LOCUSID: 12
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001085|9665246|na
NP: NP_001076|4501843
CDD: SERine Proteinase INhibitors|SERPIN|950|na|3.744620e+02
CDD: Serpins (serine protease inhibitors)|pfam00079|932|na|3.674510e+02
PRODUCT: alpha-1-antichymotrypsin, precursor
ASSEMBLY: AH002551,K01500
CONTIG: NT_026437.7|20543860|na|28765484|28777145|+|14
EVID: supported by alignment with mRNA
XM: XM_028322|14748211|na
XP: XP_028322|14748212|na
CDD: Serpin (S protease inhibitor)|pfam00079|1225|5.273e-136|476.478
CDD: SERine  Proteinase INhibitors|smart00093|1168|2.146e-129|454.521
ACCNUM: X00947|28331|na|na|na
TYPE: g
PROT: CAA25459|28332
ACCNUM: X68733|439137|na|na|na
TYPE: g
PROT: CAA48671|1340142
ACCNUM: AF089747|4165889|na|na|na
TYPE: m
PROT: AAD08810|4165890
ACCNUM: BC003559|13097704|na|na|na
TYPE: m
PROT: AAH03559|13097705
ACCNUM: J05176|177932|na|na|na
TYPE: m
PROT: AAA51560|177933
ACCNUM: K01500|177808|na|na|na
TYPE: m
PROT: AAA51543|177809
ACCNUM: M18906|177928|na|na|na
TYPE: m
PROT: AAA51559|177931
OFFICIAL_SYMBOL: SERPINA3
OFFICIAL_GENE_NAME: serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
ALIAS_SYMBOL: ACT
ALIAS_SYMBOL: AACT
PREFERRED_PRODUCT: alpha-1-antichymotrypsin, precursor
SUMMARY: Summary: The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class.  Polymorphisms in this protein appear to be tissue specific and influence protease targeting.  Variation in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease.  Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease.
CHR: 14
STS: RH1625|14|32177|na|seq_map|epcr
STS: SHGC-32982|14|37467|na|na|epcr
STS: D14S845|14|64155|D14S845|seq_map|epcr
STS: G31126|14|66238|na|seq_map|epcr
STS: RH78280|14|74665|na|seq_map|epcr
STS: RH91507|14|86678|na|seq_map|epcr
STS: D14S1143|-|148321|D14S1143|na|epcr
COMP: 10090|Pre2|12|12 52.00 cM|109636|14|SERPINA3|ucsc_mgd
COMP: 10090|X69832|12|12 957.87 cR|20717|14|AV689358|ucsc_est
COMP: 10090|AI194247|16|16 509.87 cR|16423|14|AW819120|ucsc_est
ALIAS_PROT: actichymotrypsin
ALIAS_PROT: alpha-1-antichymotrypsin
UNIGENE: Hs.234726
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=234726
OMIM: 107280
MAP: 14q32.1|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:118955">HUGO</a>|C|
MAPLINK: default_human_gene|SERPINA3
PHENOTYPE: Alpha-1-antichymotrypsin deficiency
PHENOTYPE_ID: 107280
PHENOTYPE: Cerebrovascular disease, occlusive
PHENOTYPE_ID: 107280
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=12
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=12[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:118955
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001085
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001085
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?SERPINA3
BUTTON: mgc.gif
LINK: http://mgc.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=234726
PMID: 11959399,11798857,9880565,8244391,6687683,6606438,6556193,6547997,3492865,3485824,3260956,3257719,2404007,1351206
GRIF: 11959399|significantly higher in plasma of Alzheimer patients compared to controls
GRIF: 11798857|A25G and G39A substitutions in the AACT gene are probably one of the risk factors to Alzheimer's disease (AD) in Han Chinese.
SUMFUNC: Alpha-1-antichymotrypsin; member of the serpin family of serine protease inhibitors|Proteome
GO: molecular function|plasma protein|NR|GO:0005209|Proteome|na
GO: biological process|acute-phase response|NR|GO:0006953|Proteome|na
GO: molecular function|proteinase inhibitor|NR|GO:0004866|Proteome|na
GO: molecular function|serine protease inhibitor|E|GO:0004867|Proteome|2404007
EXTANNOT: biochemical function|Inhibitor or repressor|NR|Proteome|2404007
>>13
LOCUSID: 13
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001086|4557226|na
NP: NP_001077|4557227
CDD: Carboxylesterases|pfam00135|154|na|6.439850e+01
PRODUCT: arylacetamide deacetylase
ASSEMBLY: L32179
CONTIG: NT_005849.11|20537660|na|726090|740503|+|3
EVID: supported by alignment with mRNA
XM: XM_003002|12729778|na
XP: XP_003002|11433103|na
CDD: Carboxylesterase|pfam00135|137|7.185e-10|57.381
ACCNUM: L32179|537513|na|na|na
TYPE: m
PROT: AAA35551|537514
OFFICIAL_SYMBOL: AADAC
OFFICIAL_GENE_NAME: arylacetamide deacetylase (esterase)
ALIAS_SYMBOL: DAC
PREFERRED_PRODUCT: arylacetamide deacetylase
SUMMARY: Summary: Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens
CHR: 3
STS: STS-L32179|3|13170|na|seq_map|epcr
STS: D3S4189|-|18863|D3S4189|na|epcr
STS: RH36344|3|24707|na|seq_map|epcr
STS: RH124029|-|136046|na|na|epcr
COMP: 10090|Aadac|3|3  cM|67758|3|AADAC|ncbi_mgd
COMP: 10090|AI265437|3|3 5067.00 cR|67758|3|AA702448|natgen_paper
UNIGENE: Hs.587
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=587
OMIM: 600338
ECNUM: 3.1.1.-
MAP: 3q21.3-q25.2|RefSeq|C|
MAPLINK: default_human_gene|AADAC
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=13
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=13[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:392587
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001086
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001086
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AADAC
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650
DB_DESCR: KEGG pathway: 2,4-Dichlorobenzoate degradation
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00623
DB_DESCR: KEGG pathway: Pentose and glucuronate interconversions
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00040
PMID: 9299245,8063807
SUMFUNC: Liver microsomal arylacetamide deacetylase; esterase involved in metabolically activating arylamine carcinogens|Proteome
GO: molecular function|enzyme|P|GO:0003824|Proteome|8063807
GO: cellular component|microsome|E|GO:0005792|Proteome|8063807
EXTANNOT: cellular role|Other metabolism|P|Proteome|8063807
EXTANNOT: subcellular localization|Microsomal fraction|NR|Proteome|8063807
>>14
LOCUSID: 14
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001087|4557228|na
NP: NP_001078|4557229
CDD: WD40 repeats|smart00320|97|na|4.197260e+01
CDD: WD domain, G-beta repeat|pfam00400|90|na|3.927620e+01
PRODUCT: angio-associated, migratory cell protein
ASSEMBLY: M95627
CONTIG: NT_005403.9|20537925|na|9668494|9674501|+|2
EVID: supported by alignment with both mRNA and ESTs (3)
XM: NM_001087|4557228|na
XP: NP_001078|4557229|na
ACCNUM: BC020244|18044383|na|na|na
TYPE: m
PROT: AAH20244|18044384
ACCNUM: M95627|870802|na|na|na
TYPE: m
PROT: AAA68889|870803
OFFICIAL_SYMBOL: AAMP
OFFICIAL_GENE_NAME: angio-associated, migratory cell protein
PREFERRED_PRODUCT: angio-associated, migratory cell protein
SUMMARY: Summary: The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion.
CHR: 2
STS: SGC31591|2|52581|na|seq_map|epcr
UNIGENE: Hs.83347
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=83347
OMIM: 603488
MAP: 2q36.1|RefSeq|C|
MAPLINK: default_human_gene|AAMP
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=14
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=14[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:4573993
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001087
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001087
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AAMP
PMID: 7743515
SUMFUNC: immunoglobulin-type protein; may mediate heparin-sensitive cell adhesion, may act in cell migration|Proteome
GO: biological process|cell motility|NR|GO:0006928|Proteome|na
GO: molecular function|heparin binding|P|GO:0008201|Proteome|7743515
EXTANNOT: organismal role|Cell migration/motility|P|Proteome|7743515
EXTANNOT: biochemical function|Adhesin/agglutinin|NR|Proteome|7743515
>>15
LOCUSID: 15
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001088|4501844|na
NP: NP_001079|4501845
CDD: Acetyltransferase (GNAT) family|pfam00583|149|na|6.245080e+01
PRODUCT: arylalkylamine N-acetyltransferase
ASSEMBLY: U40347
CONTIG: NT_010641.9|20557460|na|163690|166237|+|17
EVID: supported by alignment with mRNA
XM: NM_001088|4501844|na
XP: NP_001079|4501845|na
ACCNUM: U40391|1389593|na|na|na
TYPE: g
PROT: AAC50555|1389594
ACCNUM: U40347|1389591|na|na|na
TYPE: m
PROT: AAC50554|1389592
OFFICIAL_SYMBOL: AANAT
OFFICIAL_GENE_NAME: arylalkylamine N-acetyltransferase
ALIAS_SYMBOL: SNAT
ALIAS_SYMBOL: AA-NAT
PREFERRED_PRODUCT: arylalkylamine N-acetyltransferase
SUMMARY: Summary: Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when animals are exposed to light at night. This protein is 80% identical to sheep and rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic diseases such as altered behavior in sleep/wake cycle.
CHR: 17
COMP: 10090|Aanat|11|11 70.00 cM|11298|17|AANAT|ncbi_mgd
ALIAS_PROT: Serotonin N-acetyltransferase
ALIAS_PROT: serotonin N-acetyltransferase
UNIGENE: Hs.152972
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=152972
OMIM: 600950
ECNUM: 2.3.1.87
MAP: 17q25|RefSeq|C|
MAPLINK: default_human_gene|AANAT
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=15
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=15[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:700076
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001088
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001088
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AANAT
DB_DESCR: KEGG pathway: Tryptophan metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380
PMID: 9238858,8661026,7502081,2181999
SUMFUNC: Serotonin N-acetyltransferase (arylalkylamine N-acetyltransferase); melatonin synthesis, may regulate serotonin-dependent effects on human behavior and pituitary function|Proteome
GO: biological process|circadian rhythm|P|GO:0007623|Proteome|8661026
GO: molecular function|arylalkylamine N-acetyltransferase|P|GO:0004059|Proteome|8661026
EXTANNOT: cellular role|Other metabolism|NR|Proteome|8661026
EXTANNOT: biochemical function|Transferase|NR|Proteome|8661026
EXTANNOT: organismal role|Biological rhythm|P|Proteome|8661026
>>16
LOCUSID: 16
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_001605|4501840|na
NP: NP_001596|4501841
CDD: DHHA1 domain|pfam02272|153|na|6.400890e+01
CDD: tRNA synthetases class II (A)|pfam01411|2830|na|1.106770e+03
PRODUCT: alanyl-tRNA synthetase
ASSEMBLY: D32050
CONTIG: NT_010478.9|20561873|na|3372239|3409467|-|16
EVID: supported by alignment with both mRNA and ESTs (17)
XM: NM_001605|4501840|na
XP: NP_001596|4501841|na
ACCNUM: BC011451|15079237|na|na|na
TYPE: m
PROT: AAH11451|15079238
ACCNUM: D16969|598562|na|na|na
TYPE: m
ACCNUM: D32050|1015320|na|na|na
TYPE: m
PROT: BAA06808|1015321
OFFICIAL_SYMBOL: AARS
OFFICIAL_GENE_NAME: alanyl-tRNA synthetase
PREFERRED_PRODUCT: alanyl-tRNA synthetase
SUMMARY: Summary: The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure.
CHR: 16
STS: RH66606|16|19748|na|na|epcr
STS: A002L29|16|35285|na|seq_map|epcr
STS: RH65736|16|75263|na|seq_map|epcr
COMP: 10090|Aanat|11|11 70.00 cM|11298|16|AARS|ucsc_mgd
UNIGENE: Hs.75102
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75102
OMIM: 601065
ECNUM: 6.1.1.7
MAP: 16q22|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:595485">HUGO</a>|C|
MAPLINK: default_human_gene|AARS
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=16
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=16[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:595485
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001605
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001605
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AARS
DB_DESCR: KEGG pathway: Aminoacyl-tRNA biosynthesis
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00970
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252
PMID: 8595897,7761427,7654687,2915692
SUMFUNC: Alanyl-tRNA synthetase; aminoacylates its cognate tRNA with alanine for protein biosynthesis|Proteome
GO: cellular component|cytoplasm|P|GO:0005737|Proteome|7654687
GO: molecular function|tRNA binding|E|GO:0000049|Proteome|7654687
GO: biological process|tRNA processing|E|GO:0008033|Proteome|7654687
GO: cellular component|soluble fraction|P|GO:0005625|Proteome|7654687
GO: biological process|alanyl-tRNA biosynthesis|P|GO:0006419|Proteome|7761427
EXTANNOT: biochemical function|Ligase|E|Proteome|7654687
EXTANNOT: molecular localization|Soluble|P|Proteome|7654687
EXTANNOT: cellular role|Protein synthesis|E|Proteome|7654687
EXTANNOT: biochemical function|tRNA synthetase|E|Proteome|7654687
EXTANNOT: subcellular localization|Cytoplasmic|P|Proteome|7654687
EXTANNOT: biochemical function|RNA-binding protein|P|Proteome|7654687
EXTANNOT: cellular role|RNA processing/modification|E|Proteome|7654687
>>17
LOCUSID: 17
LOCUS_CONFIRMED: yes
LOCUS_TYPE: region
ORGANISM: Homo sapiens
ACCNUM: S51329|261958|na|na|na
TYPE: g
OFFICIAL_SYMBOL: AAVS1
OFFICIAL_GENE_NAME: adeno-associated virus integration site 1
ALIAS_SYMBOL: AAV
CHR: 19
OMIM: 102699
MAP: 19q13|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125369">HUGO</a>|C|19q13-qter|<a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102699">OMIM</a>|C|
MAPLINK: default_human_cyto|AAVS1
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:125369
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?AAVS1
PMID: 1334463
>>18
LOCUSID: 18
LOCUS_CONFIRMED: yes
LOCUS_TYPE: gene with protein product, function known or inferred
ORGANISM: Homo sapiens
STATUS: REVIEWED
NM: NM_000663|4501846|na
NP: NP_000654|4501847
CDD: Aminotransferases class-III pyridoxal-phosphate|pfam00202|1219|na|4.792450e+02
PRODUCT: 4-aminobutyrate aminotransferase precursor
ASSEMBLY: L32961
CONTIG: NT_031905.2|20562650|na|77831|184772|+|16
EVID: supported by alignment with both mRNA and ESTs (6)
XM: XM_007904|17487485|na
XP: XP_007904|17487486|na
CDD: Aminotransferase class-III|pfam00202|1019|4.925e-112|397.127
ACCNUM: BC015628|15990486|na|na|na
TYPE: m
PROT: AAH15628|15990487
ACCNUM: L32961|602704|na|na|na
TYPE: m
PROT: AAA74449|602705
ACCNUM: S75578|914103|na|na|na
TYPE: m
PROT: AAD14176|4261876
ACCNUM: U80226|1724132|na|na|na
TYPE: m
PROT: AAB38510|1724133
OFFICIAL_SYMBOL: ABAT
OFFICIAL_GENE_NAME: 4-aminobutyrate aminotransferase
ALIAS_SYMBOL: GABAT
PREFERRED_PRODUCT: 4-aminobutyrate aminotransferase precursor
SUMMARY: Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. ABAT cDNA encodes a 500-amino acid protein that is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses.  ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.
CHR: 16
STS: RH69040|16|75760|na|seq_map|epcr
ALIAS_PROT: GABA transferase
UNIGENE: Hs.1588
BUTTON: unigene.gif
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=1588
OMIM: 137150
ECNUM: 2.6.1.19
MAP: 16p13.3|RefSeq|C|
MAPLINK: default_human_gene|ABAT
PHENOTYPE: GABA-transaminase deficiency
PHENOTYPE_ID: 137150
BUTTON: snp.gif
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=18
BUTTON: homol.gif
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=18[loc]
BUTTON: gdb.gif
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:581658
BUTTON: ensembl.gif
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_000663
BUTTON: ucsc.gif
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_000663
DB_DESCR: Mitochondrion Database (MitoDat)
DB_LINK: http://tango01.cit.nih.gov/mitodat/search.taf?_function=list&locusid=18
DB_DESCR: GeneCards
DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?ABAT
DB_DESCR: KEGG pathway: Butanoate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00650
DB_DESCR: KEGG pathway: Glutamate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00251
DB_DESCR: KEGG pathway: Propanoate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00640
DB_DESCR: KEGG pathway: beta-Alanine metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410
DB_DESCR: KEGG pathway: Alanine and aspartate metabolism
DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00252
PMID: 10407778,7851425,7721088,7305280,6148708
SUMFUNC: 4-aminobutyrate aminotransferase; catalyzes the transfer of GABA amino groups, specifically transfers an amino group from 4-aminobutyrate (GABA) to alpha-ketoglutarate to form succinate semialdehyde and glutamic acid|Proteome
EXTANNOT: cellular role|Amino-acid metabolism|E|Proteome|7721088
