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11311 VPS45

11311

VPS45

vacuolar protein sorting 45 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition vacuolar protein sorting 45 homolog

研究结论

Date Results Publications
2021-02-27 13:54:00 SPI1-induced upregulation of lncRNA SNHG6 promotes non-small cell lung cancer via miR-485-3p/VPS45 axis. 32590190
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
2016-10-22 11:57:00 A homozygous VPS45 p.E238K mutation is associated with severe congenital neutropenia with neurological impairment. 26358756
2013-08-31 10:13:00 we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia. 23599270
2013-07-13 12:18:00 Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function. 23738510

名称对应

Type IDs
Synonymous H1, H1VPS45, SCN5, VPS45A, VPS45B, VPS54A, VSP45, VSP45A
Gene
UniProtKB-ID: VPS45_HUMAN, B7Z5D4_HUMAN, A0A2R8YE10_HUMAN, B7Z360_HUMAN
UniprotKB: Q9NRW7, B7Z5D4, A0A2R8YE10, B7Z360
UniParc: UPI00000015E6, UPI0001914F44, UPI00020654A8, UPI0001914D6C, UPI0000204162
EMBL: AC242988, AL358073, U35246, AK223214, CH471121, AK023170, BC028382, AK295529, AJ133421, AC244033, AF165513, AK298786, BC012932
Ensembl: ENSG00000136631
KO: hsa:11311
Nucleutide sequences
EMBL-CDS: AAF86643.1, AAC50931.1, EAW53584.1, AAH28382.1, BAD96934.1, CAB40417.1, AAH12932.1, EAW53585.1, CAI14265.1, BAB14443.1, BAH12870.1, BAH12096.1
Ensembl_TRS: ENST00000644510, ENST00000535106, ENST00000369128, ENST00000643970
Protein sequencees
Ensembl_PRO: ENSP00000358124, ENSP00000440690, ENSP00000495563, ENSP00000495148
RefSeq: XP_024308559.1, NP_009190.2, NP_001266282.1, NP_001266283.1
Others
UniRef100: UniRef100_Q9NRW7, UniRef100_B7Z5D4, UniRef100_B7Z360
UniRef90: UniRef90_Q9NRW7
UniRef50: UniRef50_Q9NRW7
UniGene: Hs.443750
CCDS: CCDS944.1, CCDS60244.1

全选

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