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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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