2. Gene
  3. VPS45 - vacuolar protein sorting 45 homolog Gene

VPS45 - vacuolar protein sorting 45 homolog Gene

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

中文名称：液泡蛋白分选 45 同系物

种属: Homo sapiens

同用名: H1; SCN5; VSP45; VPS45A; VPS45B; VPS54A; VSP45A; H1VPS45

基因 ID: 11311 | 基因类型: protein coding

关于 VPS45

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,067,382-150,145,329 (from NCBI)

This gene has 47 transcripts (splice variants), 210 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 10.4), adrenal (RPKM 10.2) and 25 other tissues.

功能概要

囊泡介导的蛋白质分选在将细胞内分子分离到不同的细胞器中起着重要作用。酵母的遗传研究已经确定了 40 多个液泡蛋白分选 (VPS) 基因参与囊泡向液泡的运输。该基因是 Sec1 域家族的成员，与小鼠、大鼠和酵母 Vps45 显示出高度的序列相似性。该基因的确切功能尚不清楚，但其在外周血单核细胞中的高表达表明其在运输蛋白质 (包括炎症介质) 中的作用。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供，2013 年 7 月]

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

VPS45 基因产物(3)

mRNA Protein Name
NM_001279353.2 NP_001266282.1 vacuolar protein sorting-associated protein 45 isoform 2
NM_001279354.2 NP_001266283.1 vacuolar protein sorting-associated protein 45 isoform 3
NM_007259.5 NP_009190.2 vacuolar protein sorting-associated protein 45 isoform 1
基因本体论
  • 分子功能
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
25416956 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

VPS45 蛋白结构

Sec1

Sec1: Sec1 family (22 - 546)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 570 a.a.
蛋白主名 其他名称

vacuolar protein sorting-associated protein 45

leucocyte vacuolar protein sorting 45

VPS45 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
Intra VPS45 Q9NRW7 RBSN Homo sapiens Q9H1K0
Validated Y2H
25416956
Intra VPS45 Q9NRW7 STX16 Homo sapiens O14662
Anti Tag CoIP
33961781
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
Neutropenia, Severe Congenital, 5, Autosomal Recessive

SCN5

Neutropenia, Severe Congenital 5, Autosomal Recessive

Severe Congenital Neutropenia 5, Autosomal Recessive

Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive
Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5
Neutropenia

Leukopenia
Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7
Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma
Myelofibrosis

Primary Myelofibrosis

Agnogenic Myeloid Metaplasia

Idiopathic Myelofibrosis

Myeloid Metaplasia

Myelofibrosis With Myeloid Metaplasia

Osteomyelofibrosis

Megakaryocytic Myelosclerosis

Myelosclerosis

Chronic Idiopathic Myelofibrosis

Myelofibrosis, Idiopathic

Myelofibrosis With Myeloid Metaplasia, Somatic

Myelofibrosis, Somatic

Aleukemic Myelosis

Bone Marrow Fibrosis

MYELOF

MMM

Agnogenic Myeloid Metaplasia With Myelofibrosis

Ammm

Myelosclerosis With Myeloid Metaplasia

Myelofibrosis Nos
Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type

PN

Clericuzio Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia Clericuzio Type

Immune-Deficient Poikiloderma

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma With Neutropenia Clericuzio-Type

Poikiloderma, With Neutropenia
Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3
Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency
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-RS15692 VPS45 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus VPS45 VGNC VGNC:36824
Macaca mulatta VPS45 VGNC VGNC:78964
Mus musculus VPS45 MGD MGI:891965
Canis familiaris VPS45 VGNC VGNC:48292
Felis catus VPS45 VGNC VGNC:66969
Rattus norvegicus VPS45 RGD RGD:621267
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