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

Gene ID: 414189, updated on 2-Nov-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, Nov 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

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