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

ARFGAP3 Protein Structure

ArfGap

0
100
200
300
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00901	ARFGAP3 Human Pre-designed siRNA Set A		/	Unkown

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

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