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    ANKDD1A ankyrin repeat and death domain containing 1A [ Homo sapiens (human) ]

    Gene ID: 348094, updated on 23-Nov-2021

    Summary

    Official Symbol
    ANKDD1Aprovided by HGNC
    Official Full Name
    ankyrin repeat and death domain containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:28002
    See related
    Ensembl:ENSG00000166839
    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
    Expression
    Broad expression in adrenal (RPKM 13.1), spleen (RPKM 12.2) and 24 other tissues See more
    Orthologs
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    Genomic context

    See ANKDD1A in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (64911902..64958691)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65204101..65251033)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PIF1 5'-to-3' DNA helicase Neighboring gene pleckstrin homology domain containing O2 Neighboring gene uncharacterized LOC107984754 Neighboring gene SPG21 abhydrolase domain containing, maspardin Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene

    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

    Phenotypes

    Associated conditions

    Description Tests
    New gene functions in megakaryopoiesis and platelet formation.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ18078, FLJ25870, MGC120305, MGC120306, MGC120307

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat and death domain-containing protein 1A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_182703.6NP_874362.3  ankyrin repeat and death domain-containing protein 1A

      See identical proteins and their annotated locations for NP_874362.3

      Status: VALIDATED

      Source sequence(s)
      AC103691, AK098736, AK307698, BC042002, BC047571, BC101273, BC101275, BX116779
      Consensus CDS
      CCDS10197.2
      UniProtKB/Swiss-Prot
      Q495B1
      Related
      ENSP00000325895.9, ENST00000319580.13
      Conserved Domains (4) summary
      cd00204
      Location:186311
      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 ...
      cd01670
      Location:426494
      Death; Death Domain: a protein-protein interaction domain
      pfam12796
      Location:163253
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:260288
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      64911902..64958691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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