1. Gene
  2. ARFGAP3 - ADP ribosylation factor GTPase activating protein 3 Gene

ARFGAP3 - ADP ribosylation factor GTPase activating protein 3 Gene

Homo sapiens

Also known as ARFGAP1

Gene ID: 26286 | Gene type: protein coding

About ARFGAP3

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,796,502-42,857,273 (from NCBI)

This gene has 6 transcripts (splice variants), 204 orthologues and 28 paralogues. Ubiquitous expression in adrenal (RPKM 47.6), prostate (RPKM 36.1) and 25 other tissues.

Summary

The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to Phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]

ARFGAP3 Products(2)

mRNA Protein Name
NM_001142293.2 NP_001135765.1 ADP-ribosylation factor GTPase-activating protein 3 isoform 2
NM_014570.5 NP_055385.3 ADP-ribosylation factor GTPase-activating protein 3 isoform 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
11172815 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23275563 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein secretion IEP
IEP: Inferred from expression pattern
11172815 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
11172815 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

ARFGAP3 Protein Structure

ArfGap

ArfGap: Putative GTPase activating protein for Arf (12 - 116)

  • 0
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  • 400
  • 516 a.a.
Protein Preferred Names Protein Names

ADP-ribosylation factor GTPase-activating protein 3

ADP-ribosylation factor GTPase activating protein 1

Related Diseases

Diseases Alias
Ceroid Lipofuscinosis, Neuronal, 4

Ceroid Lipofuscinosis, Neuronal, Parry Type

Cln4b Disease

Neuronal Ceroid Lipofuscinosis 4b

CLN4B

Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Adult Neuronal Ceroid Lipofuscinosis

CLN4

Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant

Neuronal Ceroid Lipofuscinosis 4

Neuronal Ceroid Lipofuscinosis 4 Parry Type

Adult Neuronal Ceroid Lipofuscinosis 4b

Kuf'S Disease Type B

Kuf'S Disease, Autosomal Dominant

Cln4 Disease

Parry Disease

Ceroid Lipofuscinosis, Neuronal 4

Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant

Kufs Disease Autosomal Dominant

Neuronal Ceroid Lipofuscinosis Parry Type

Ceroid Lipofuscinosis, Neuronal, 4, Parry Type

Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type

Hypotrichosis-Lymphedema-Telangiectasia Syndrome

HLTS

Hypotrichosis Lymphedema Telangiectasia Syndrome

Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

Pelvic Organ Prolapse

Rectal Prolapse

Pelvic Organ Prolapse, Susceptibility To, 1

Pelvic Organ Prolapse, Susceptibility To

Prolapse Of Vagina And Rectum

Vaginal Prolapse

Pelvic Organ Prolapse 1

Procidentia, Rectum

Prolapse Of Rectal Mucosa

Procidentia Of Rectum

Rectal Mucosa Prolapse

Rectum Prolapse

Procidentia Rectum

Rp - [Rectal Prolapse]

Male Proctocele

Male Rectocele

Proctoptosis

Female Genital Prolapse

Female Prolapse

Incompetence Of Pelvic Fundus

Relaxation Of Perineum

Deficiency Of Perineum

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

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

Orthologs Information

Species Symbol Source ID
Canis familiaris ARFGAP3 VGNC VGNC:38034
Rattus norvegicus ARFGAP3 RGD RGD:1560066
Bos taurus ARFGAP3 VGNC VGNC:26063
Mus musculus ARFGAP3 MGD MGI:1913501
Macaca mulatta ARFGAP3 VGNC VGNC:70002
Felis catus ARFGAP3 VGNC VGNC:68050