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5092 PCBD1

5092

PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition pterin-4 alpha-carbinolamine dehydratase 1

研究结论

Date Results Publications
2014-11-22 12:33:00 We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. 24848070
2014-05-10 13:50:00 Coactivator of the HNFB1 (HNF1 homeobox B)-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule 24204001
2014-01-29 12:58:00 Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha. 9092652
2010-09-15 22:06:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20532202
2010-01-21 00:00:00 Albumin colocalized together with its transcription factor PCD/DCoH/HNF-1alpha in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium. 15740590

名称对应

Type IDs
Synonymous DCOH, PCBD, PCD, PHS
Gene
UniProtKB-ID: PHS_HUMAN
UniprotKB: P61457
UniParc: UPI0000110F51
EMBL: AF082858, M83742, L41560, BC006324, L41559
Ensembl: ENSG00000166228
KO: hsa:5092
Nucleutide sequences
EMBL-CDS: AAH06324.1, AAA69662.1, AAD25732.1, AAA69663.1
Ensembl_TRS: ENST00000299299
Protein sequencees
Ensembl_PRO: ENSP00000299299
RefSeq: NP_000272.1, NP_001309933.1, NP_001276726.1
Others
UniRef100: UniRef100_P61457
UniRef90: UniRef90_P61457
UniRef50: UniRef50_P61457
UniGene: Hs.3192
CCDS: CCDS31217.1

全选

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