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63894 VIPAS39

63894

VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

研究结论

Date Results Publications
2020-09-05 13:57:00 Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system. 31501156
2020-04-18 10:19:00 The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39. 31988382
2018-03-17 10:41:00 A likely causal mutation was identified in the majority (61%), spanning many genes including ones that have only rarely been reported to cause cholestatic liver disease, e.g. TJP2 and VIPAS39 28039895
2016-12-17 11:18:00 Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis. 26808426
2014-07-12 10:06:00 Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion. 23918659

名称对应

Type IDs
Synonymous C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39
Gene
UniProtKB-ID: SPE39_HUMAN, B4DMB7_HUMAN, Q6IA61_HUMAN
UniprotKB: Q9H9C1, B4DMB7, Q6IA61
UniParc: UPI00017A796F, UPI00017A7613, UPI00000735EF
EMBL: AK298354, BC015054, AK024661, AK022769, AK297388, CH471061, AK098254, CR457294, AK022925, AF111168
Ensembl: ENSG00000151445
KO: hsa:63894
Nucleutide sequences
EMBL-CDS: AAH15054.1, BAB14237.1, BAB14310.1, AAD09624.1, BAG60598.1, BAB14951.1, BAG59829.1, CAG33575.1, BAG53601.1, EAW81290.1, EAW81289.1, EAW81286.1, EAW81288.1
Gene_ORFName: hCG_22273
Ensembl_TRS: ENST00000343765, ENST00000448935, ENST00000327028, ENST00000553888, ENST00000557658
Protein sequencees
Ensembl_PRO: ENSP00000452181, ENSP00000452191, ENSP00000339122, ENSP00000404815, ENSP00000313098
RefSeq: XP_011535368.1, NP_071350.2, NP_001180244.1, XP_016877069.1, XP_024305456.1, NP_001180246.1, XP_016877070.1, NP_001180245.1, NP_001180243.1
Others
UniRef100: UniRef100_Q9H9C1, UniRef100_B4DMB7
UniRef90: UniRef90_A0A5F9DG06, UniRef90_Q9H9C1
UniRef50: UniRef50_Q9H9C1
UniGene: Hs.16157
CCDS: CCDS53905.1, CCDS9862.1

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