1. Gene
  2. ASAP1 - ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Gene

ASAP1 - ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Gene

Homo sapiens

Also known as PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4

Gene ID: 50807 | Gene type: protein coding

About ASAP1

Cytogenetic location: 8q24.21-q24.22 Genomic coordinates (GRCh38): 8:130,052,104-130,443,674 (from NCBI)

This gene has 16 transcripts (splice variants), 240 orthologues and 28 paralogues. Ubiquitous expression in bone marrow (RPKM 18.3), spleen (RPKM 15.5) and 24 other tissues.

Summary

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and Cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ASAP1 Products(5)

mRNA Protein Name
NM_001247996.2 NP_001234925.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2
NM_001362924.1 NP_001349853.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 3
NM_001362925.2 NP_001349854.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 4
NM_001362926.2 NP_001349855.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 5
NM_018482.4 NP_060952.2 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 1

ASAP1 Protein Structure

PH

PH: PH domain (326 - 414)

ArfGap

ArfGap: Putative GTPase activating protein for Arf (440 - 555)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (585 - 666)

SH3_1

SH3_1: SH3 domain (1074 - 1121)

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  • 1129 a.a.
Protein Preferred Names Protein Names

arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1

130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein

Related Diseases

Diseases Alias
Laryngeal Benign Neoplasm

Laryngeal Tumor

Larynx Neoplasm

Neoplasm Of Larynx

Laryngeal Cancer

Laryngeal Carcinoma

Cancer Of Larynx

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus ASAP1 VGNC VGNC:59952
Mus musculus ASAP1 MGD MGI:1342335
Rattus norvegicus ASAP1 RGD RGD:1307379
Macaca mulatta ASAP1 VGNC VGNC:69918
Canis familiaris ASAP1 VGNC VGNC:38153
Bos taurus ASAP1 VGNC VGNC:26184