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    AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [ Homo sapiens (human) ]

    Gene ID: 414189, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AGAP6provided by HGNC
    Official Full Name
    ArfGAP with GTPase domain, ankyrin repeat and PH domain 6provided by HGNC
    Primary source
    HGNC:HGNC:23466
    See related
    Ensembl:ENSG00000204149 AllianceGenome:HGNC:23466
    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
    AGAP-6; CTGLF3
    Summary
    Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.9), skin (RPKM 8.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See AGAP6 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49988368..50010499)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50838006..50860142)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51748128..51770259)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TIMM23B-AGAP6 readthrough (NMD candidate) Neighboring gene translocase of inner mitochondrial membrane 23 homolog B Neighboring gene small nucleolar RNA, H/ACA box 74C-2 Neighboring gene RNA, 5S ribosomal pseudogene 317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:51784655-51785155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:51787127-51787626 Neighboring gene family with sequence similarity 21, member A pseudogene Neighboring gene solute carrier family 9 member 3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2365 Neighboring gene WASH complex subunit 2A

    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 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. 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
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Readthrough TIMM23B-AGAP6

    Readthrough gene: TIMM23B-AGAP6, Included gene: TIMM23B

    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 6
    Names
    centaurin-gamma-like family member 3

    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_001077665.3 → NP_001071133.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AL442003
      Consensus CDS
      CCDS44397.1
      UniProtKB/Swiss-Prot
      Q5VW22
      Related
      ENSP00000500374.1, ENST00000412531.7
      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]

    RNA

    1. NR_171667.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL442003

    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
      49988368..50010499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50838006..50860142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VW22.1 GenPept UniProtKB/Swiss-Prot:Q5VW22

    Gene LinkOut

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

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