RIC1 - RIC1 homolog, RAB6A GEF complex partner 1 Gene

Homo sapiens

Also known as CATIFA; CIP150; KIAA1432; bA207C16.1

Gene ID: 57589 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	23091056	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23091056	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	23091056	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cranial skeletal system development	IMP IMP: Inferred from mutant phenotype	31932796	GOA
involved in negative regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	23091056	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	23091056	GOA
involved in regulation of extracellular matrix constituent secretion	IMP IMP: Inferred from mutant phenotype	31932796	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	23091056	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex	IDA IDA: Inferred from direct assay	23091056	GOA
located in cytosol	IDA IDA: Inferred from direct assay	23091056	GOA
located in membrane	IDA IDA: Inferred from direct assay	23091056	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23091056	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RIC1 Protein Structure

RIC1

0
300
600
900
1200
1423 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide exchange factor subunit RIC1

RAB6A GEF complex partner 1

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11965	RIC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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