1. Gene
  2. ARFGAP1 - ADP ribosylation factor GTPase activating protein 1 Gene

ARFGAP1 - ADP ribosylation factor GTPase activating protein 1 Gene

Homo sapiens

Also known as ARF1GAP; HRIHFB2281

Gene ID: 55738 | Gene type: protein coding

About ARFGAP1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,272,813-63,289,790 (from NCBI)

This gene has 23 transcripts (splice variants), 198 orthologues and 28 paralogues. Ubiquitous expression in spleen (RPKM 11.8), testis (RPKM 11.1) and 25 other tissues.

Summary

The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ARFGAP1 Products(5)

mRNA Protein Name
NM_001281482.2 NP_001268411.1 ADP-ribosylation factor GTPase-activating protein 1 isoform c
NM_001281483.2 NP_001268412.1 ADP-ribosylation factor GTPase-activating protein 1 isoform d
NM_001281484.2 NP_001268413.1 ADP-ribosylation factor GTPase-activating protein 1 isoform e
NM_018209.4 NP_060679.1 ADP-ribosylation factor GTPase-activating protein 1 isoform a
NM_175609.3 NP_783202.1 ADP-ribosylation factor GTPase-activating protein 1 isoform b

ARFGAP1 Protein Structure

ArfGap

ArfGap: Putative GTPase activating protein for Arf (8 - 115)

  • 0
  • 100
  • 200
  • 300
  • 406 a.a.
Protein Preferred Names Protein Names

ADP-ribosylation factor GTPase-activating protein 1

ARF1-directed GTPase-activating protein

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

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
Macaca mulatta ARFGAP1 VGNC VGNC:69835
Bos taurus ARFGAP1 VGNC VGNC:56176
Felis catus ARFGAP1 VGNC VGNC:59866
Mus musculus ARFGAP1 MGD MGI:2183559
Canis familiaris ARFGAP1 VGNC VGNC:38032
Rattus norvegicus ARFGAP1 RGD RGD:708452