AGAP1 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Gene

Homo sapiens

Also known as GGAP1; AGAP-1; CENTG2; cnt-g2

Gene ID: 116987 | Gene type: protein coding

About AGAP1

Cytogenetic location: 2q37.2 Genomic coordinates (GRCh38): 2:235,494,043-236,131,793 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues and 28 paralogues. Broad expression in brain (RPKM 11.1), colon (RPKM 5.1) and 23 other tissues.

Summary

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and Cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

AGAP1 Products(4)

mRNA	Protein	Name
NM_001037131.3	NP_001032208.1	arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1
NM_001244888.2	NP_001231817.1	arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 3
NM_001412122.1	NP_001399051.1	arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 4
NM_014914.5	NP_055729.2	arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables phospholipid binding	IDA IDA: Inferred from direct assay	18954304	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

AGAP1 Protein Structure

Roc

ArfGap

Ank_2

0
200
400
600
800
857 a.a.

Protein Preferred Names

Protein Names

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1

Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1

Related Diseases

Diseases

Alias

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage	Col4a1-Related Familial Vascular Leukoencephalopathy
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome	Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy
Brain Small Vessel Disease With Axenfeld-Riegar Anomaly	Brain Small Vessel Disease With Hemorrhage
Brain Small Vessel Disease With Or Without Ocular Anomalies	Bsvd1
Infantile Hemiparesis	Leukoencephalopathy With Axenfeld-Riegar Anomaly

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

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-RS00437	AGAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AGAP1	MGD	MGI:2653690
Felis catus	AGAP1	VGNC	VGNC:80128
Rattus norvegicus	AGAP1	RGD	RGD:1309244
Bos taurus	AGAP1	VGNC	VGNC:59176
Canis familiaris	AGAP1	VGNC	VGNC:37695
Macaca mulatta	AGAP1	VGNC	VGNC:84206

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