2. Gene
  3. VPS53 - VPS53 subunit of GARP complex Gene

VPS53 - VPS53 subunit of GARP complex Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GARP 复合体的 VPS53 亚基

种属: Homo sapiens

同用名: HCCS1; PCH2E; hVps53L; pp13624

基因 ID: 55275 | 基因类型: protein coding

关于 VPS53

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:508,668-714,839 (from NCBI)

This gene has 72 transcripts (splice variants), 1 gene allele, 221 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.1), brain (RPKM 5.4) and 25 other tissues.

功能概要

该基因编码的蛋白质与酵母 Vps53p 蛋白质具有序列相似性。 Vps53p 参与晚期高尔基体的逆行囊泡运输。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]

VPS53 基因产物(4)

mRNA Protein Name
NM_001128159.3 NP_001121631.1 vacuolar protein sorting-associated protein 53 homolog isoform 1
NM_001366253.2 NP_001353182.1 vacuolar protein sorting-associated protein 53 homolog isoform 3
NM_001366254.2 NP_001353183.1 vacuolar protein sorting-associated protein 53 homolog isoform 4
NM_018289.4 NP_060759.2 vacuolar protein sorting-associated protein 53 homolog isoform 2

VPS53 蛋白结构

Vps53_N

Vps53_N: Vps53-like, N-terminal (40 - 452)

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

vacuolar protein sorting-associated protein 53 homolog

VPS53, GARP complex subunit

VPS53 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
Anti Bait CoIP
25799061
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
Anti Tag CoIP
25799061
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
TAP
25799061
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
Anti Tag CoIP
33961781
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
Anti Tag CoIP
28514442
种属内
VPS53 Q5VIR6 VPS50 Homo sapiens Q96JG6
Y2H
25799061
种属内
VPS53 Q5VIR6 VPS54 Homo sapiens Q9P1Q0
TAP
25799061
种属内
VPS53 Q5VIR6 VPS54 Homo sapiens Q9P1Q0
Anti Tag CoIP
33961781
种属内
VPS53 Q5VIR6 VPS54 Homo sapiens Q9P1Q0
Y2H
25799061
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d
Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia
Non-Syndromic Pontocerebellar Hypoplasia

Pontoneocerebellar Hypoplasia

Pch

Pontoneocerebellar Atrophy
Cerebral Atrophy
Pontocerebellar Hypoplasia, Type 11

PCH11

Pontocerebellar Hypoplasia Type 11

Pontocerebellar Hypoplasia Due To Tbc1d23

Pontocerebellar Hypoplasia 11

Doid:0112324
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2
Pontocerebellar Hypoplasia, Type 2f

PCH2F

Pontocerebellar Hypoplasia Type 2f

Pontocerebellar Hypoplasia 2f

Doid:0112329

Hypoplasia, Pontocerebellar, Type 2f
Omodysplasia 2

OMOD2

Omodysplasia, Autosomal Dominant

Autosomal Dominant Omodysplasia

Omodysplasia Type 2

Omodysplasia, Type 2
Pontocerebellar Hypoplasia, Type 4

Pontocerebellar Hypoplasia Type 4

PCH4

Olivopontocerebellar Hypoplasia

Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia

Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia

Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 4

Young Mckeever Squier Syndrome

Hypoplasia, Pontocerebellar, Type 4
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15698 VPS53 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus VPS53 RGD RGD:1311391
Bos taurus VPS53 VGNC VGNC:36829
Felis catus VPS53 VGNC VGNC:66973
Canis familiaris VPS53 VGNC VGNC:48297
Mus musculus VPS53 MGD MGI:1915549
Macaca mulatta VPS53 VGNC VGNC:79522
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