1. Gene
  2. AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Gene

AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Gene

Homo sapiens

Also known as CRAG; AGAP-3; CENTG3; MRIP-1; cnt-g3

Gene ID: 116988 | Gene type: protein coding

About AGAP3

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,085,867-151,144,434 (from NCBI)

This gene has 26 transcripts (splice variants), 199 orthologues and 28 paralogues. Ubiquitous expression in brain (RPKM 17.1), lung (RPKM 9.1) and 25 other tissues.

Summary

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

AGAP3 Products(8)

mRNA Protein Name
NM_001042535.4 NP_001036000.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform b
NM_001281300.2 NP_001268229.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform c
NM_001308304.2 NP_001295233.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform d
NM_001308305.2 NP_001295234.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform e
NM_001350102.2 NP_001337031.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform f
NM_001350103.2 NP_001337032.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform g
NM_001350104.2 NP_001337033.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform h
NM_031946.7 NP_114152.3 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform a

AGAP3 Protein Structure

Roc

Roc: Ras of Complex, Roc, domain of DAPkinase (129 - 236)

PH

PH: PH domain (405 - 638)

ArfGap

ArfGap: Putative GTPase activating protein for Arf (665 - 775)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (790 - 879)

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  • 911 a.a.
Protein Preferred Names Protein Names

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3

CRAM-associated GTPase

Related Diseases

Diseases Alias
Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

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
Mus musculus AGAP3 MGD MGI:2183446
Canis familiaris AGAP3 VGNC VGNC:51785
Felis catus AGAP3 VGNC VGNC:59675
Bos taurus AGAP3 VGNC VGNC:25721
Rattus norvegicus AGAP3 RGD RGD:1310751
Macaca mulatta AGAP3 VGNC VGNC:69621