RABGAP1 - RAB GTPase activating protein 1 Gene

Also Known as GAPCENA; TBC1D11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23637

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	Unkown
HY-RS11585	RABGAP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	RABGAP1	NCBI