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    ANKHD1 ankyrin repeat and KH domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 54882, updated on 15-Jun-2019

    Summary

    Official Symbol
    ANKHD1provided by HGNC
    Official Full Name
    ankyrin repeat and KH domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24714
    See related
    Ensembl:ENSG00000131503 MIM:610500
    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
    MASK; MASK1; VBARP; PP2500
    Summary
    This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.5), skin (RPKM 15.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ANKHD1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (140401814..140539856)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139781399..139919441)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 4 member 9 Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene RNA, U4 small nuclear 14, pseudogene Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene steroid receptor RNA activator 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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with ankyrin repeat and KH domain containing 1 (ANKHD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough ANKHD1-EIF4EBP3

    Readthrough gene: ANKHD1-EIF4EBP3, Included gene: EIF4EBP3

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and KH domain-containing protein 1
    Names
    HIV-1 Vpr-binding ankyrin repeat protein
    multiple ankyrin repeats, single KH-domain homolog

    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.

    mRNA and Protein(s)

    1. NM_001197030.1NP_001183959.1  ankyrin repeat and KH domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001183959.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several exons in the central and 3' coding regions, and uses an alternate 3' terminal exon, compared to variant 1. The resulting isoform (4) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC004457, BC117678, DA509209
      Consensus CDS
      CCDS75319.1
      UniProtKB/Swiss-Prot
      Q8IWZ3
      Related
      ENSP00000478529.1, ENST00000616482.4
      Conserved Domains (4) summary
      cd00204
      Location:367491
      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:276365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406435
      ANK; ANK repeat [structural motif]
    2. NM_017747.3NP_060217.1  ankyrin repeat and KH domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060217.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest isoform (1).
      Source sequence(s)
      AF521882, AK000904, DA509209
      Consensus CDS
      CCDS4225.1
      UniProtKB/Swiss-Prot
      Q8IWZ3
      Related
      ENSP00000354085.2, ENST00000360839.7
      Conserved Domains (7) summary
      cd00105
      Location:16971759
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      cd00204
      Location:367491
      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 ...
      pfam05672
      Location:780865
      MAP7; MAP7 (E-MAP-115) family
      pfam12796
      Location:276365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406435
      ANK; ANK repeat [structural motif]
      cl09111
      Location:814852
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. NM_017978.3NP_060448.1  ankyrin repeat and KH domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_060448.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, lacks several exons in the central and 3' coding regions, and uses an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC009420, DA509209
      Consensus CDS
      CCDS43372.1
      UniProtKB/Swiss-Prot
      Q8IWZ3
      Related
      ENSP00000378211.3, ENST00000394722.7
      Conserved Domains (4) summary
      cd00204
      Location:356480
      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:265354
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:363414
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:395424
      ANK; ANK repeat [structural motif]
    4. NM_024668.4NP_078944.2  ankyrin repeat and KH domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_078944.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons in the central and 3' coding regions, and uses an alternate 3' terminal exon, compared to variant 1. The resulting isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC004457, DA509209
      Consensus CDS
      CCDS43371.1
      UniProtKB/Swiss-Prot
      Q8IWZ3
      Related
      ENSP00000378212.3, ENST00000394723.7
      Conserved Domains (4) summary
      cd00204
      Location:367491
      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:276365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406435
      ANK; ANK repeat [structural motif]

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      140401814..140539849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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