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10555 AGPAT2

10555

AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition 1-acylglycerol-3-phosphate O-acyltransferase 2

研究结论

Date Results Publications
2021-02-06 13:52:00 Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease. 32117065
2020-12-05 12:57:00 Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. 32094408
2018-12-01 12:16:00 The findings demonstrate that AGPAT2, which is mutated in patients with congenital generalized lipodystrophy and over-expressed in different types of cancer, is a direct transcriptional target of HIF-1, suggesting that upregulation of lipid storage by HIF-1 plays an important role in adaptation and survival of cancer cells under low oxygen conditions. 29908837
2017-05-06 11:24:00 Results show that LPAATbeta had high expression in osteosarcoma patients who received cisplatin treatment and cisplatin-resistant cancer cell lines. In vitro and in vivo studies provide evidence that LPAATB plays an important role in osteosarcoma. 28035350
2014-11-08 12:09:00 Data show that missense mutation c.299G>A changes serine in the acyltransferase NHX4D motif of AGPAT2, and intronic c.493-1G>C mutation destroy a splicing site that leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain. 24498038

名称对应

Type IDs
Synonymous 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta
Gene
UniProtKB-ID: PLCB_HUMAN, A0A024R8I7_HUMAN, A0A024R8F9_HUMAN
UniprotKB: O15120, A0A024R8I7, A0A024R8F9
UniParc: UPI000002B133, UPI0000131BD3
EMBL: HM005456, AF011374, U56418, AL590226, CH471090, BC000026, BC004529, AF000237
Ensembl: ENSG00000169692
KO: hsa:10555
Nucleutide sequences
EMBL-CDS: AAH04529.1, AAB64299.1, EAW88251.1, EAW88249.1, AAH00026.1, AAB58776.2, AAC51649.1, EAW88250.1, EAW88252.1, AEE61054.1
Gene_ORFName: hCG_27224, hCG_27224
Ensembl_TRS: ENST00000371694, ENST00000371696, ENST00000538402
Protein sequencees
Ensembl_PRO: ENSP00000360759, ENSP00000438919, ENSP00000360761
RefSeq: NP_006403.2, NP_001012745.1
Others
UniRef100: UniRef100_O15120, UniRef100_A0A024R8F9
UniRef90: UniRef90_O15120
UniRef50: UniRef50_O15120
UniGene: Hs.320151
CCDS: CCDS35181.1, CCDS7003.1

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