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    ANKRD9 ankyrin repeat domain 9 [ Homo sapiens (human) ]

    Gene ID: 122416, updated on 8-Jul-2021

    Summary

    Official Symbol
    ANKRD9provided by HGNC
    Official Full Name
    ankyrin repeat domain 9provided by HGNC
    Primary source
    HGNC:HGNC:20096
    See related
    Ensembl:ENSG00000156381 MIM:618605
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Broad expression in duodenum (RPKM 15.4), small intestine (RPKM 11.1) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ANKRD9 in Genome Data Viewer
    Location:
    14q32.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (102501767..102509776, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102968104..102976113, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene zinc finger protein 839 Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene tectonin beta-propeller repeat containing 2 Neighboring gene uncharacterized LOC105370679 Neighboring gene RNA, U6 small nuclear 244, pseudogene Neighboring gene uncharacterized LOC105370680

    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

    Phenotypes

    Associated conditions

    Description Tests
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ankyrin repeat domain 9 (ANKRD9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC21990

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin ligase-substrate adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul5-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 9

    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.

    mRNA and Protein(s)

    1. NM_001348651.2NP_001335580.1  ankyrin repeat domain-containing protein 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AL136293
      Consensus CDS
      CCDS9973.1
      UniProtKB/Swiss-Prot
      Q96BM1
      Conserved Domains (2) summary
      cd00204
      Location:119198
      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:158189
      ANK; ANK repeat [structural motif]
    2. NM_001348652.2NP_001335581.1  ankyrin repeat domain-containing protein 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AK291868, AL136293
      Consensus CDS
      CCDS9973.1
      UniProtKB/Swiss-Prot
      Q96BM1
      Related
      ENSP00000453650.1, ENST00000560748.5
      Conserved Domains (2) summary
      cd00204
      Location:119198
      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:158189
      ANK; ANK repeat [structural motif]
    3. NM_152326.4NP_689539.1  ankyrin repeat domain-containing protein 9

      See identical proteins and their annotated locations for NP_689539.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AL136293, AW138815, BX161460
      Consensus CDS
      CCDS9973.1
      UniProtKB/Swiss-Prot
      Q96BM1
      Related
      ENSP00000286918.4, ENST00000286918.9
      Conserved Domains (2) summary
      cd00204
      Location:119198
      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:158189
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      102501767..102509776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267310.3XP_005267367.1  ankyrin repeat domain-containing protein 9 isoform X1

      See identical proteins and their annotated locations for XP_005267367.1

      UniProtKB/Swiss-Prot
      Q96BM1
      Related
      ENSP00000453417.1, ENST00000559404.5
      Conserved Domains (2) summary
      cd00204
      Location:119198
      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:158189
      ANK; ANK repeat [structural motif]
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