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    ANKRD1 ankyrin repeat domain 1 [ Homo sapiens (human) ]

    Gene ID: 27063, updated on 30-Apr-2024

    Summary

    Official Symbol
    ANKRD1provided by HGNC
    Official Full Name
    ankyrin repeat domain 1provided by HGNC
    Primary source
    HGNC:HGNC:15819
    See related
    Ensembl:ENSG00000148677 MIM:609599; AllianceGenome:HGNC:15819
    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
    ALRP; CARP; C-193; CVARP; MCARP; bA320F15.2
    Summary
    The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward heart (RPKM 2170.6) See more
    Orthologs
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    Genomic context

    See ANKRD1 in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (90912096..90921087, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (91795773..91804766, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (92671853..92680844, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene 5-hydroxytryptamine receptor 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:92564844-92565562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2601 Neighboring gene Sharpr-MPRA regulatory region 7939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3757 Neighboring gene ribonuclease P/MRP subunit p30 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:92685047-92685933 Neighboring gene VISTA enhancer hs495 Neighboring gene RNA, U6 small nuclear 740, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3758 Neighboring gene uncharacterized LOC105378427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3759 Neighboring gene uncharacterized LOC107984252

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ankyrin repeat domain 1 (ANKRD1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of ankyrin repeat domain 1 (ANKRD1) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables titin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein kinase C signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sarcomere organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in I band ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 1
    Names
    ankyrin repeat domain 1 (cardiac muscle)
    cardiac ankyrin repeat protein
    cytokine-inducible gene C-193 protein
    cytokine-inducible nuclear protein
    epididymis secretory sperm binding protein
    liver ankyrin repeat domain 1

    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.

    Genomic

    1. NG_023227.1 RefSeqGene

      Range
      5001..14176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_379

    mRNA and Protein(s)

    1. NM_014391.3NP_055206.2  ankyrin repeat domain-containing protein 1

      See identical proteins and their annotated locations for NP_055206.2

      Status: REVIEWED

      Source sequence(s)
      AL590622, BC018667, X83703
      Consensus CDS
      CCDS7412.1
      UniProtKB/Swiss-Prot
      Q15327, Q96LE7
      UniProtKB/TrEMBL
      A0A384NYH5, A8K4J5
      Related
      ENSP00000360762.3, ENST00000371697.4
      Conserved Domains (3) summary
      cd00204
      Location:147272
      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 ...
      sd00045
      Location:188216
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:252297
      Ank_4; Ankyrin repeats (many copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      90912096..90921087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      91795773..91804766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)