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

    Gene ID: 27063, updated on 4-Jan-2025

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (90912096..90921087, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (91795773..91804766, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cardiac muscle tissue morphogenesis PubMed 
    involved_in cellular response to interleukin-1 PubMed 
    involved_in cellular response to lipopolysaccharide PubMed 
    involved_in cellular response to mechanical stimulus PubMed 
    involved_in cellular response to transforming growth factor beta stimulus PubMed 
    involved_in cellular response to tumor necrosis factor PubMed 
    involved_in cellular response to xenobiotic stimulus  
    involved_in negative regulation of DNA biosynthetic process PubMed 
    involved_in negative regulation of DNA-templated transcription  
    involved_in phospholipase C/protein kinase C signal transduction  
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of apoptotic process PubMed 
    involved_in positive regulation of protein secretion PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in response to muscle stretch PubMed 
    involved_in sarcomere organization PubMed 
    involved_in skeletal muscle cell differentiation  
    Component Evidence Code Pubs
    located_in I band PubMed 
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in fibrillar center  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    part_of transcription regulator complex  

    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_2024_08

    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)
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