例如:"NBL1", "4681", "drought"
收藏
64145 RBSN

64145

RBSN

rabenosyn, RAB effector

protein-coding

Homo sapiens

基因描述

Type Description
Definition rabenosyn, RAB effector

研究结论

Date Results Publications
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
2019-07-20 10:54:00 3 consanguineous siblings with syndromic congenital myelofibrosis had a variant (NM_022340.3:c.289G>C; NP_001289307.1:p.Gly97Arg) in RBSN. All 3 were homozygous; the parents and a cousin were heterozygous. RBSN loss of function causes a severe syndromic form of congenital myelofibrosis, confirming that rabenosyn-5 plays a vital role in human development and hematopoiesis. 29784638
2015-07-25 10:36:00 A functional defect in the endocytic pathway resulting from a point mutation in Rabenosyn-5 leads to severe multi-organ disorder. 25233840
2012-04-14 10:48:00 transferrin receptors are delivered selectively from clathrin-coated pits on the plasma membrane into a specific subpopulation of endosomes enriched in the multivalent Rab GTPase and phosphoinositide-binding protein Rabenosyn-5. 22308388
2010-03-29 11:43:00 Data implicate hVps45 and Rabenosyn-5 in post early endosome transport, and suggest that their interaction serves as a nexus to promote bidirectional transport along the endosome-to-recycling compartment and endosome-to-Golgi axes. 19931244

名称对应

Type IDs
Synonymous Rabenosyn-5, ZFYVE20
Gene
UniProtKB-ID: RBNS5_HUMAN, A8K5H3_HUMAN
UniprotKB: Q9H1K0, A8K5H3
UniParc: UPI00015DA82C, UPI00017A8229, UPI0000051CE0
EMBL: AB209673, AK291288, AC090954, AK092312, AY009133, AK301735, BC106940
Ensembl: ENSG00000131381
KO: hsa:64145
Nucleutide sequences
EMBL-CDS: AAG33246.1, BAG63200.1, AAI06941.1, BAD92910.1, BAC03860.1, BAF83977.1
Ensembl_TRS: ENST00000253699, ENST00000476527
Protein sequencees
Ensembl_PRO: ENSP00000253699, ENSP00000422551
RefSeq: XP_005265442.1, NP_071735.2, XP_016862513.1, XP_011532303.1, XP_016862516.1, XP_016862512.1, XP_016862517.1, XP_016862515.1, XP_016862514.1, NP_001289307.1, XP_005265441.1
Others
UniRef100: UniRef100_Q9H1K0, UniRef100_A8K5H3
UniRef90: UniRef90_Q9H1K0
UniRef50: UniRef50_Q9H1K0
UniGene: Hs.475565, Hs.706478
CCDS: CCDS2623.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员