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    ANKRD34A ankyrin repeat domain 34A [ Homo sapiens (human) ]

    Gene ID: 284615, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKRD34Aprovided by HGNC
    Official Full Name
    ankyrin repeat domain 34Aprovided by HGNC
    Primary source
    HGNC:HGNC:27639
    See related
    Ensembl:ENSG00000272031 AllianceGenome:HGNC:27639
    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
    ANKRD34
    Expression
    Biased expression in brain (RPKM 4.5), prostate (RPKM 0.7) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD34A in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145959441..145964575, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145076256..145081392, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145470515..145475647)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gonadotropin releasing hormone receptor 2 (pseudogene) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 Neighboring gene RNA binding motif protein 8A Neighboring gene LIX1L antisense RNA 1 Neighboring gene limb and CNS expressed 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1270 Neighboring gene conserved acetylation island sequence C12 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145473321-145474156 Neighboring gene Sharpr-MPRA regulatory region 4010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1621 Neighboring gene RNA polymerase III subunit GL Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145458517-145459016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1622 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:145455010-145456209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1628 Neighboring gene thioredoxin interacting protein

    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. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article
    2. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    3. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, et al. Science, 2022 Mar 11. PMID 35271311, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, 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 (7) 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

    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

    • DKFZp761F202

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in pi-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 34A
    Names
    ankyrin repeat domain 34

    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_001039888.4 → NP_001034977.1  ankyrin repeat domain-containing protein 34A

      See identical proteins and their annotated locations for NP_001034977.1

      Status: VALIDATED

      Source sequence(s)
      AC243547, AK128050, BM723295, DA081864
      Consensus CDS
      CCDS72874.1
      UniProtKB/Swiss-Prot
      B3KSU3, Q69YU3
      Related
      ENSP00000475189.1, ENST00000606888.3
      Conserved Domains (4) summary
      cd00204
      Location:8 → 131
      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 ...
      pfam12796
      Location:9 → 108
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:96 → 131
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:8 → 35
      ANK; ANK repeat [structural motif]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      145959441..145964575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      145076256..145081392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YU3.2 GenPept UniProtKB/Swiss-Prot:Q69YU3

    Gene LinkOut

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

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