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    AKNAD1 AKNA domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 254268, updated on 15-Jun-2019

    Summary

    Official Symbol
    AKNAD1provided by HGNC
    Official Full Name
    AKNA domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28398
    See related
    Ensembl:ENSG00000162641
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1orf62
    Summary
    This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Restricted expression toward testis (RPKM 5.4) See more
    Orthologs

    Genomic context

    See AKNAD1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (108815898..108858242, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109358520..109400864, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 7 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene syntaxin binding protein 3 Neighboring gene uncharacterized LOC105378891 Neighboring gene uncharacterized LOC107985159 Neighboring gene spermatogenesis associated 42 Neighboring gene G protein signaling modulator 2 Neighboring gene chloride channel CLIC like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Potential readthrough

    Included gene: CLCC1

    Homology

    Clone Names

    • MGC26989

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II proximal promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_032762.1 RefSeqGene

      Range
      6139..47345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152763.5NP_689976.2  protein AKNAD1

      See identical proteins and their annotated locations for NP_689976.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AL449266, AL832216
      Consensus CDS
      CCDS791.2
      UniProtKB/Swiss-Prot
      Q5T1N1
      Related
      ENSP00000359018.3, ENST00000370001.8
      Conserved Domains (1) summary
      pfam12443
      Location:327421
      AKNA; AT-hook-containing transcription factor

    RNA

    1. NR_049760.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5 ' exon and lacks several internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK095517, AL449266
      Related
      ENST00000474186.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      108815898..108858242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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