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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116987

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	References	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

PH

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

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 Set	/	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
Others	AGAP1	NCBI