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  2. VPS51 - VPS51 subunit of GARP complex Gene

VPS51 - VPS51 subunit of GARP complex Gene

中文名称:GARP 复合体的 VPS51 亚基

种属: Homo sapiens

同用名: FFR; ANG2; ANG3; PCH13; C11orf2; C11orf3

基因 ID: 738 | 基因类型: protein coding

关于 VPS51

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,096,214-65,111,862 (from NCBI)

This gene has 17 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 41.5), colon (RPKM 30.6) and 25 other tissues.

功能概要

该基因编码液泡蛋白分选相关蛋白 51 家族的成员。编码的蛋白质是高尔基体相关逆行蛋白复合物的组成部分,它作为载体从早期和晚期内体逆行转运到反式高尔基体网络的束缚因子。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 12 月]

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

VPS51 基因产物(1)

mRNA Protein Name
NM_013265.4 NP_037397.2 vacuolar protein sorting-associated protein 51 homolog
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
3172165 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagy IMP
IMP: 通过突变表型推断
20685960 GOA
involved in brain morphogenesis IDA
IDA: 通过直接分析推断
30624672 GOA
involved in endocytic recycling IMP
IMP: 通过突变表型推断
25799061 GOA
acts upstream of or within lysosomal transport IMP
IMP: 通过突变表型推断
25799061 GOA
involved in retrograde transport, endosome to Golgi IDA
IDA: 通过直接分析推断
20685960 GOA
acts upstream of or within retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
25799061 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EARP complex IDA
IDA: 通过直接分析推断
25799061 GOA
part of EARP complex IPI
IPI: 通过物理相互作用推断
25799061 GOA
part of GARP complex IDA
IDA: 通过直接分析推断
20685960 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
20685960 GOA
located in membrane IDA
IDA: 通过直接分析推断
25799061 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
25799061 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

VPS51 蛋白结构

Vps51

Vps51: Vps51/Vps67 (64 - 146)

  • 0
  • 200
  • 400
  • 600
  • 782 a.a.
蛋白主名 其他名称

vacuolar protein sorting-associated protein 51 homolog

VPS51, GARP complex subunit

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 13

PCH13

Pontocerebellar Hypoplasia Type 13

Pontocerebellar Hypoplasia 13

Doid:0112332

Hypoplasia, Pontocerebellar, Type 13

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta VPS51 VGNC VGNC:97839
Mus musculus VPS51 MGD MGI:1915755
Bos taurus VPS51 VGNC VGNC:36827
Canis familiaris VPS51 VGNC VGNC:48295
Felis catus VPS51 VGNC VGNC:66972
Rattus norvegicus VPS51 RGD RGD:2319165