1. Gene
  2. SVBP - small vasohibin binding protein Gene

SVBP - small vasohibin binding protein Gene

中文名称:小血管抑制素结合蛋白

种属: Homo sapiens

同用名: CCDC23; NEDAHM

基因 ID: 374969 | 基因类型: protein coding

关于 SVBP

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,807,052-42,817,397 (from NCBI)

This gene has 3 transcripts (splice variants), 182 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 21.3), fat (RPKM 15.7) and 24 other tissues.

功能概要

启用微管结合活动。参与轴突发育;蛋白水解;金属肽酶活性的调节。作用于内皮细胞迁移的负调节上游或内;蛋白质泛素化的负调控;和蛋白质分泌。位于细胞顶端。 [由基因组资源联盟提供,2022 年 4 月]

Enables microtubule binding activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Apr 2022]

SVBP 基因产物(1)

mRNA Protein Name
NM_199342.4 NP_955374.1 small vasohibin-binding protein
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 microtubule binding IDA
IDA: 通过直接分析推断
31324789 GOA
enables peptidase activator activity IDA
IDA: 通过直接分析推断
31171830 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29146869 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axon development IMP
IMP: 通过突变表型推断
31324789 GOA
acts upstream of or within negative regulation of endothelial cell migration IGI
IGI: 通过遗传相互作用推断
20736312 GOA
acts upstream of or within negative regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
20736312 GOA
acts upstream of or within protein secretion IDA
IDA: 通过直接分析推断
20736312 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
29146869 GOA
involved in regulation of metallopeptidase activity IMP
IMP: 通过突变表型推断
31171830 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical part of cell IDA
IDA: 通过直接分析推断
20736312 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
蛋白主名 其他名称

small vasohibin-binding protein

coiled-coil domain containing 23

SVBP 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
SVBP Q8N300 VASH1 Homo sapiens Q7L8A9-1 31270470
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
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly

NEDAHM

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hypotonia
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
Mus musculus SVBP MGD MGI:1916466
Bos taurus SVBP VGNC VGNC:35497
Rattus norvegicus SVBP RGD RGD:1311232
Macaca mulatta SVBP VGNC VGNC:106503
Canis familiaris SVBP VGNC VGNC:49865
Felis catus SVBP VGNC VGNC:107670