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10785 WDR4

10785

WDR4

WD repeat domain 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition WD repeat domain 4

研究结论

Date Results Publications
2019-11-02 10:50:00 WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to Galloway-Mowat syndrome, if mutated 30079490
2019-08-03 10:36:00 We report here 2 sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first 2 described patients: they both have a severe microcephaly but only one of the 2 sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a growth hormone deficiency and a partial hypogonadotropic hypogonadotropism 28617965
2017-10-14 12:46:00 WDR4 is an oncoprotein that negatively regulates PML via ubiquitination to promote lung cancer progression by fostering an immunosuppressive and prometastatic tumor microenvironment 28691927
2016-07-16 11:29:00 Combined autozygome/exome analysis revealed a novel missense mutation in WDR4 as the likely causal variant of Primordial dwarfism 26416026
2016-06-11 10:52:00 regulates FEN1's potential DNA cleavage threat near the site of replication 26751069

名称对应

Type IDs
Synonymous TRM82, TRMT82
Gene
UniProtKB-ID: WDR4_HUMAN
UniprotKB: P57081
UniParc: UPI000016039B, UPI00019B2238, UPI00000372F0
EMBL: AK315008, AB039887, AP001629, CH471079, BC001074, BC006341, AJ243912, AK298015, AK056343, AJ243913, AK292923
Ensembl: ENSG00000160193
KO: hsa:10785
Nucleutide sequences
EMBL-CDS: BAG37500.1, AAH06341.1, CAB93144.1, EAX09529.1, CAB93145.1, AAH01074.1, BAG60319.1, BAG51684.1, BAB13726.1, BAF85612.1, EAX09528.1
Ensembl_TRS: ENST00000398208, ENST00000330317
Protein sequencees
Ensembl_PRO: ENSP00000328671, ENSP00000381266
RefSeq: NP_001247405.1, NP_001247404.1, NP_001247403.1, XP_024307818.1, XP_016883753.1, NP_387510.1, XP_024307815.1, XP_016883752.1, NP_001247406.1, XP_024307816.1, XP_024307817.1, XP_011527735.1, NP_061139.2, XP_016883751.1
Others
UniRef100: UniRef100_P57081
UniRef90: UniRef90_P57081
UniRef50: UniRef50_P57081
UniGene: Hs.248815, Hs.711744
CCDS: CCDS13691.1

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