RABGAP1 - RAB GTPase activating protein 1 Gene

Homo sapiens

Also known as GAPCENA; TBC1D11

Gene ID: 23637 | Gene type: protein coding

About RABGAP1

Cytogenetic location: 9q33.2-q33.3 Genomic coordinates (GRCh38): 9:122,931,671-123,104,866 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and 45 paralogues. Ubiquitous expression in thyroid (RPKM 21.8), brain (RPKM 18.2) and 25 other tissues.

Summary

Enables GTPase activator activity and small GTPase binding activity. Involved in regulation of GTPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

RABGAP1 Products(1)

mRNA	Protein	Name
NM_012197.4	NP_036329.3	rab GTPase-activating protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	17562788	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	17562788	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of GTPase activity	IDA IDA: Inferred from direct assay	17562788	GOA
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	17562788	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

RABGAP1 Protein Structure

PID

DUF3694

RabGAP-TBC

0
200
400
600
800
1000
1069 a.a.

Protein Preferred Names

Protein Names

rab GTPase-activating protein 1

GAP and centrosome-associated protein

RABGAP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RABGAP1	Q9Y3P9	RABGAP1L	Homo sapiens	Q5R372	Anti Tag CoIP	35271311
Intra	RABGAP1	Q9Y3P9	RABGAP1L	Homo sapiens	Q5R372	Anti Tag CoIP	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus	Cdi
Pituitary Diabetes Insipidus	Vasopressin Defective Diabetes Insipidus
Vasopressin Deficiency	Central Diabetes Insipidus
Diabetes Insipidus, Neurogenic	Diabetes Insipidus, Primary Central
Diabetes Insipidus, Cranial Type	Diabetes Insipidus Secondary To Vasopressin Deficiency
Diabetes Insipidus, Central	Diabetes Insipidus, Pituitary
NDI	Diabetes Insipidus Cranial Type
Neurogenic Diabetes Insipidus	Primary Central Diabetes Insipidus

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11584	RABGAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS11585	RABGAP1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RABGAP1	VGNC	VGNC:55801
Macaca mulatta	RABGAP1	VGNC	VGNC:107114
Rattus norvegicus	RABGAP1	RGD	RGD:1304691
Bos taurus	RABGAP1	VGNC	VGNC:106888
Felis catus	RABGAP1	VGNC	VGNC:102973
Mus musculus	RABGAP1	MGD	MGI:2385139

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