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

Gene ID: 119016, updated on 27-Nov-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 GTPase activity. [provided by Alliance of Genome Resources, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (45825594..45854690, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46706663..46735755, complement)
RS_2024_09 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)

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
  

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_2024_08

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

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