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

    Gene ID: 54882, updated on 9-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:24714
    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
    mouse all
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    Genomic context

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    See ANKHD1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140401833..140539849)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (140927267..141065280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139781418..139919434)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANKHD1 divergent transcript Neighboring gene uncharacterized LOC124901087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16449 Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139786226-139786726 Neighboring gene RNA, U4 small nuclear 14, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139805430-139805930 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139805931-139806431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139808054-139808563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139812829-139813329 Neighboring gene uncharacterized LOC124901194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139926194-139926902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139926903-139927609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139927610-139928317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16450 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139936291-139937112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23276 Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene steroid receptor RNA activator 1

    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. Ankyrin repeat and single KH domain 1 (ANKHD1) drives renal cancer cell proliferation via binding to and altering a subset of miRNAs. Fragiadaki M, et al. J Biol Chem, 2018 Jun 22. PMID 29695508, Free PMC Article
    2. ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells. Traina F, et al. Biochim Biophys Acta, 2006 Sep. PMID 16956752
    3. Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis. Miles MC, et al. FEBS J, 2005 Aug. PMID 16098192
    4. ANKHD1 regulates cell cycle progression and proliferation in multiple myeloma cells. Dhyani A, et al. FEBS Lett, 2012 Dec 14. PMID 23142581
    5. Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes. Almeida BO, et al. BMB Rep, 2020 Aug. PMID 32635985, Free PMC Article

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluating the Molecular Properties and Function of ANKHD1, and Its Role in Cancer.
      Title: Evaluating the Molecular Properties and Function of ANKHD1, and Its Role in Cancer.
    2. The feedback loop of ANKHD1/lncRNA MALAT1/YAP1 strengthens the radioresistance of CRC by activating YAP1/AKT signaling.
      Title: The feedback loop of ANKHD1/lncRNA MALAT1/YAP1 strengthens the radioresistance of CRC by activating YAP1/AKT signaling.
    3. Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes.
      Title: Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes.
    4. ANKHD1 promotes proliferation and invasion of nonsmallcell lung cancer cells via regulating YAP oncoprotein expression and inactivating the Hippo pathway.
      Title: ANKHD1 promotes proliferation and invasion of non‑small‑cell lung cancer cells via regulating YAP oncoprotein expression and inactivating the Hippo pathway.
    5. ANKHD1 is an S phase protein required for histone synthesis and DNA repair in multiple myeloma cells.
      Title: ANKHD1 is an S phase protein required for histone synthesis and DNA repair in multiple myeloma cells.
    6. we identified ANKHD1 as a co-regulator with SMYD3. We provided evidence that SMYD3 transactivates its target genes and promotes HCC cells migration and invasion through ANKHD1.
      Title: ANKHD1 is required for SMYD3 to promote tumor metastasis in hepatocellular carcinoma.
    7. High ANKHD1 expression is associated with renal cancer.
      Title: Ankyrin repeat and single KH domain 1 (ANKHD1) drives renal cancer cell proliferation via binding to and altering a subset of miRNAs.
    8. ANKHD1 may be an oncogene and participate in the leukemia cell phenotype.
      Title: ANKHD1 silencing inhibits Stathmin 1 activity, cell proliferation and migration of leukemia cells.
    9. Data suggest an association of ANKHD1 (Ankyrin repeat and KH domain-containing protein 1) protein with p21 (WAF1/CIP1) promoter region.
      Title: ANKHD1 represses p21 (WAF1/CIP1) promoter and promotes multiple myeloma cell growth.
    10. ANKHD1 is a positive regulator of YAP1 and promotes cell growth and cell cycle progression through Cyclin A upregulation.
      Title: ANKHD1, a novel component of the Hippo signaling pathway, promotes YAP1 activation and cell cycle progression in prostate cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough ANKHD1-EIF4EBP3

    Readthrough gene: ANKHD1-EIF4EBP3, Included gene: EIF4EBP3

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    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)

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    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_001197030.2 → NP_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:367 → 491
      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:276 → 365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374 → 425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406 → 435
      ANK; ANK repeat [structural motif]

    2. NM_017747.3 → NP_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
      A6NH85, Q149P2, Q8IWZ2, Q8IWZ3, Q8WY90, Q96G77, Q96GK0, Q9H2U0, Q9HA95, Q9NWG4, Q9UPR7
      Related
      ENSP00000354085.2, ENST00000360839.7
      Conserved Domains (7) summary
      cd00105
      Location:1697 → 1759
      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:367 → 491
      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:780 → 865
      MAP7; MAP7 (E-MAP-115) family
      pfam12796
      Location:276 → 365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374 → 425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406 → 435
      ANK; ANK repeat [structural motif]
      cl09111
      Location:814 → 852
      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_017978.3 → NP_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:356 → 480
      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:265 → 354
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:363 → 414
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:395 → 424
      ANK; ANK repeat [structural motif]

    4. NM_024668.4 → NP_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:367 → 491
      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:276 → 365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374 → 425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406 → 435
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140401833..140539849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      140927267..141065280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWZ3.1 GenPept UniProtKB/Swiss-Prot:Q8IWZ3

    Gene LinkOut

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

    Chemical Information
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