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    ACTRT3 actin related protein T3 [ Homo sapiens (human) ]

    Gene ID: 84517, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ACTRT3provided by HGNC
    Official Full Name
    actin related protein T3provided by HGNC
    Primary source
    HGNC:HGNC:24022
    See related
    Ensembl:ENSG00000184378 MIM:608534; AllianceGenome:HGNC:24022
    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
    ARPM1; ARP-T3
    Summary
    Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 21.9), kidney (RPKM 1.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q26.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169766921..169769561, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172550873..172553662, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169484709..169487349, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 637, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20782 Neighboring gene telomerase RNA component (TERC) promoter Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169486144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20783 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169487501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20784 Neighboring gene telomerase RNA component Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:169490847-169491350 Neighboring gene tRNA-Val (anticodon AAC) 1-1 Neighboring gene myoneurin

    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. Identification of two cDNAs for human actin-related proteins (Arps) that have remarkable similarity to conventional actin. Harata M, et al. Biochim Biophys Acta, 2001 Dec 3. PMID 11750065
    2. Nuclear localization of profilin III-ArpM1 complex in mouse spermiogenesis. Hara Y, et al. FEBS Lett, 2008 Sep 3. PMID 18692047
    3. Identification of a melanoma susceptibility locus and somatic mutation in TET2. Song F, et al. Carcinogenesis, 2014 Sep. PMID 24980573, Free PMC Article
    4. Genome-wide association study identifies multiple loci associated with bladder cancer risk. Figueroa JD, et al. Hum Mol Genet, 2014 Mar 1. PMID 24163127, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog
    Identification of a melanoma susceptibility locus and somatic mutation in TET2.
    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

    Clone Names

    • MGC15664

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    actin-related protein T3
    Names
    actin-related protein M1

    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_032487.5 → NP_115876.3  actin-related protein T3

      See identical proteins and their annotated locations for NP_115876.3

      Status: VALIDATED

      Source sequence(s)
      AB049117, AI811210, AK055346
      Consensus CDS
      CCDS3206.1
      UniProtKB/Swiss-Prot
      Q96IS0, Q96NJ0, Q9BYD9
      Related
      ENSP00000333037.1, ENST00000330368.3
      Conserved Domains (2) summary
      smart00268
      Location:7 → 372
      ACTIN; Actin
      cl17037
      Location:9 → 372
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169766921..169769561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172550873..172553662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYD9.1 GenPept UniProtKB/Swiss-Prot:Q9BYD9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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