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

    Gene ID: 119016, updated on 17-Jun-2024

    Summary

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    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 AllianceGenome:HGNC:23459
    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
    Summary
    Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 6.1), skin (RPKM 5.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See AGAP4 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (45825594..45854690, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46706663..46735755, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (46321042..46350138, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA guanine-N7 methyltransferase activating subunit-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:46221940-46222685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:46222686-46223430 Neighboring gene Sharpr-MPRA regulatory region 4830 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 PARG pseudogene 1 Neighboring gene ribosomal protein L35a pseudogene 23

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Varela I, et al. Nature, 2011 Jan 27. PMID 21248752, Free PMC Article
    2. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    3. Genome-wide association study of hematological and biochemical traits in a Japanese population. Kamatani Y, et al. Nat Genet, 2010 Mar. PMID 20139978
    4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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    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_001276343.3 → NP_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
      Consensus CDS
      CCDS91238.1
      UniProtKB/Swiss-Prot
      Q5VW22
      UniProtKB/TrEMBL
      A0A087X0Z1
      Related
      ENSP00000483751.2, ENST00000616763.6
      Conserved Domains (6) summary
      cd00204
      Location:594 → 677
      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:280 → 447
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:283 → 442
      PH; PH domain
      pfam01412
      Location:466 → 580
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:591 → 681
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:591 → 621
      ANK; ANK repeat [structural motif]

    2. NM_001393377.1 → NP_001380306.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012044
      UniProtKB/Swiss-Prot
      Q5VW22
      Conserved Domains (4) summary
      cd01250
      Location:241 → 408
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      sd00045
      Location:552 → 582
      ANK; ANK repeat [structural motif]
      cd08853
      Location:425 → 533
      ArfGap_AGAP2; ArfGAP with GTPase domain, ANK repeat and PH domain 2
      pfam12796
      Location:552 → 642
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001393378.1 → NP_001380307.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC012044
      UniProtKB/TrEMBL
      A0A7P0T8Q0

    4. NM_133446.4 → NP_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
      Consensus CDS
      CCDS7215.1
      UniProtKB/Swiss-Prot
      Q5VW22, Q96P64
      Related
      ENSP00000392513.2, ENST00000448048.7
      Conserved Domains (6) summary
      cd00204
      Location:571 → 654
      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:257 → 424
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:260 → 419
      PH; PH domain
      pfam01412
      Location:443 → 557
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:568 → 658
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:568 → 598
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_171664.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012044

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      45825594..45854690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      46706663..46735755 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96P64.2 GenPept UniProtKB/Swiss-Prot:Q96P64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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