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AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 [ Homo sapiens (human) ]

Gene ID: 119016, updated on 13-Mar-2020

Summary

Official Symbol
AGAP4provided by HGNC
Official Full Name
ArfGAP with GTPase domain, ankyrin repeat and PH domain 4provided by HGNC
Primary source
HGNC:HGNC:23459
See related
Ensembl:ENSG00000188234
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGAP8; MRIP2; AGAP-4; AGAP-8; CTGLF1; CTGLF5
Expression
Ubiquitous expression in testis (RPKM 6.1), skin (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See AGAP4 in Genome Data Viewer
Location:
10q11.22
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (45825592..45853877, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (46321040..46358501, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNMT-activating mini protein pseudogene Neighboring gene WASH complex subunit 2C Neighboring gene PARGP1-AGAP4 readthrough Neighboring gene family with sequence similarity 25 member E Neighboring gene RNA, 5S ribosomal pseudogene 310 Neighboring gene poly(ADP-ribose) glycohydrolase pseudogene 1 Neighboring gene ribosomal protein L35a pseudogene 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4
Names
ARF GTPase-activating protein
ArfGAP with GTPase domain, ankyrin repeat and PH domain 8
arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8
centaurin, gamma-like family, member 1
centaurin, gamma-like family, member 5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001276343.2NP_001263272.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001263272.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC012044, AF411132, AW089174, BC062366, BC171833
    UniProtKB/Swiss-Prot
    Q96P64
    Related
    ENSP00000483751.1, ENST00000616763.4
    Conserved Domains (6) summary
    cd00204
    Location:594677
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01250
    Location:280447
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00169
    Location:283442
    PH; PH domain
    pfam01412
    Location:466580
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:591681
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:591621
    ANK; ANK repeat [structural motif]
  2. NM_001291379.1NP_001278308.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC012044, AW089174, BC062366
    Conserved Domains (6) summary
    cd00204
    Location:486569
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01250
    Location:172339
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00169
    Location:175334
    PH; PH domain
    pfam01412
    Location:358472
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:483573
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:483513
    ANK; ANK repeat [structural motif]
  3. NM_133446.3NP_597703.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_597703.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC012044, AF411132, AW089174, BC062366
    Consensus CDS
    CCDS7215.1
    UniProtKB/Swiss-Prot
    Q96P64
    Related
    ENSP00000392513.2, ENST00000448048.6
    Conserved Domains (6) summary
    cd00204
    Location:571654
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01250
    Location:257424
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00169
    Location:260419
    PH; PH domain
    pfam01412
    Location:443557
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:568658
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:568598
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    45825592..45853877 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001077686.2: Suppressed sequence

    Description
    NM_001077686.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this AGAP family member.
  2. NM_001276344.1: Suppressed sequence

    Description
    NM_001276344.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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