1. Gene
  2. RIC1 - RIC1 homolog, RAB6A GEF complex partner 1 Gene

RIC1 - RIC1 homolog, RAB6A GEF complex partner 1 Gene

中文名称:RIC1 同源物,RAB6A GEF 复杂伙伴 1

种属: Homo sapiens

同用名: CATIFA; CIP150; KIAA1432; bA207C16.1

基因 ID: 57589 | 基因类型: protein coding

关于 RIC1

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:5,629,107-5,778,633 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 6.0), testis (RPKM 5.0) and 25 other tissues.

功能概要

启用胍基核苷酸交换因子活性和小 GTP 酶结合活性。参与多个过程,包括 GTPase 活性的正向调节;细胞外基质成分分泌的调节;和逆行运输,内体到高尔基体。位于胞质溶胶和膜中。 Ric1-Rgp1 胍基-核苷酸交换因子复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Apr 2022]

RIC1 基因产物(3)

mRNA Protein Name
NM_001135920.4 NP_001129392.2 guanine nucleotide exchange factor subunit RIC1 isoform b
NM_001206557.2 NP_001193486.1 guanine nucleotide exchange factor subunit RIC1 isoform c
NM_020829.4 NP_065880.2 guanine nucleotide exchange factor subunit RIC1 isoform a
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
23091056 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23091056 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
23091056 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cranial skeletal system development IMP
IMP: 通过突变表型推断
31932796 GOA
involved in negative regulation of protein catabolic process IMP
IMP: 通过突变表型推断
23091056 GOA
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
23091056 GOA
involved in regulation of extracellular matrix constituent secretion IMP
IMP: 通过突变表型推断
31932796 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
23091056 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex IDA
IDA: 通过直接分析推断
23091056 GOA
located in cytosol IDA
IDA: 通过直接分析推断
23091056 GOA
located in membrane IDA
IDA: 通过直接分析推断
23091056 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23091056 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

RIC1 蛋白结构

RIC1

RIC1: RIC1 (732 - 993)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1423 a.a.
蛋白主名 其他名称

guanine nucleotide exchange factor subunit RIC1

RAB6A GEF complex partner 1

关联疾病

疾病名称 别名
Catifa Syndrome

CATIFA

Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, And Attention-Deficit Hyperactivity Disorder

Cleft Lip, Cataract, Tooth Abnormality, Intellectual Disability, Facial Dysmorphism, Attention-Deficit Hyperactivity Disorder

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Hodgkin'S Lymphoma, Nodular Sclerosis

Classical Hodgkin Lymphoma, Nodular Sclerosis

Classic Hodgkin Lymphoma, Nodular Sclerosis Type

Nodular Sclerosis Hodgkin Lymphoma

Hodgkin'S Disease, Nodular Sclerosis

Hodgkin Disease, Nodular Sclerosis

Hodgkin Lymphoma, Nodular Sclerosis

Hodgkin Nodular Sclerosis

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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
Bos taurus RIC1 VGNC VGNC:33959
Felis catus RIC1 VGNC VGNC:64623
Canis familiaris RIC1 VGNC VGNC:45570
Rattus norvegicus RIC1 RGD RGD:1310016
Mus musculus RIC1 MGD MGI:1924893