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23761 PISD

23761

PISD

phosphatidylserine decarboxylase

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphatidylserine decarboxylase

研究结论

Date Results Publications
2020-03-28 10:13:00 the biallelic hypomorphic PISD variant p.(Cys266Tyr) is associated with a novel Spondyloepimetaphyseal dysplasias form. 30488656
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 High-throughput mass spectrometry screening for inhibitors of PISD is reported. 17478478

名称对应

Type IDs
Synonymous DJ858B16, PSD, PSDC, PSSC, dJ858B16.2
Gene
UniProtKB-ID: PISD_HUMAN, A0A024R1K5_HUMAN
UniprotKB: Q9UG56, A0A024R1K5
UniParc: UPI0000207594, UPI000006F992
EMBL: CH471095, AL096768, AL050371, CR456540, BC009315, BC001482, AL031255, AF035304
Ensembl: ENSG00000241878
KO: hsa:23761
Nucleutide sequences
EMBL-CDS: AAH09315.1, EAW59984.1, CAB43678.2, CAG30426.1, AAH01482.1, AAB88186.1, EAW59986.1, EAW59989.1, EAW59991.1, EAW59988.1
Gene_ORFName: hCG_2010605
Ensembl_TRS: ENST00000439502, ENST00000266095, ENST00000382151
Protein sequencees
Ensembl_PRO: ENSP00000371586, ENSP00000266095, ENSP00000391739
RefSeq: NP_821141.1, NP_001313341.1, NP_001313340.1, NP_001313350.1, NP_001313344.1, NP_001313348.1, NP_001313347.1, NP_001313346.1, NP_001313345.1, NP_001313343.1, NP_055153.1, NP_001313349.1, NP_001313342.1
Others
UniRef100: UniRef100_A0A024R1K5, UniRef100_Q9UG56
UniRef90: UniRef90_Q9UG56, UniRef90_A0A024R1K5
UniRef50: UniRef50_W5LZY6, UniRef50_Q9UG56
UniGene: Hs.420559
CCDS: CCDS87016.1, CCDS13899.1

全选

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