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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 50807

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
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
12029088 GOA
Biological Process GO Annotation Evidence Références Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
20393563 GOA
involved in protein localization to cilium IDA
IDA: Inferred from direct assay
25673879 GOA
Cellular Component GO Annotation Evidence Références Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
25673879 GOA
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
25673879 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

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 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

ASAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ASAP1 Q9ULH1 HCK Homo sapiens P08631 12029088
Intra
ASAP1 Q9ULH1 HCK Homo sapiens P08631 16636290
Intra
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
Intra
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
Intra
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
Intra
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 15090612
Intra
ASAP1 Q9ULH1 CTTN Homo sapiens Q14247 16636290
Intra
ASAP1 Q9ULH1 CTTN Homo sapiens Q14247 17255943
Intra
ASAP1 Q9ULH1 NCK1 Homo sapiens P16333 16636290
Intra
ASAP1 Q9ULH1 FYN Homo sapiens P06241 16636290
Intra
ASAP1 Q9ULH1 SRC Homo sapiens P12931 17474147
Intra
ASAP1 Q9ULH1 SRC Homo sapiens P12931 16636290
Intra
ASAP1 Q9ULH1 CBLB Homo sapiens Q13191 17255943
Intra
ASAP1 Q9ULH1 PLCG1 Homo sapiens P19174 17474147
Intra
ASAP1 Q9ULH1 PLCG1 Homo sapiens P19174 17474147
Cross
ASAP1 Q9ULH1 apc Crosspus laevis P70039 18786926
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others ASAP1 NCBI