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

    Gene ID: 122416, updated on 11-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:20096
    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
    Summary
    Enables ubiquitin ligase-substrate adaptor activity. Involved in cellular copper ion homeostasis; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytoplasmic vesicle and cytosol. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum (RPKM 15.4), small intestine (RPKM 11.1) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q32.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (102501767..102509776, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (96737669..96745678, complement)
    105.20220307 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 small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6115 Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene uncharacterized LOC124903389 Neighboring gene uncharacterized LOC124903440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9072 Neighboring gene tectonin beta-propeller repeat containing 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:102877147-102878136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102906165-102906672 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:102974901-102975062 Neighboring gene RNA, U6 small nuclear 244, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102976187-102976830 Neighboring gene uncharacterized LOC105370679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102976831-102977476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102977477-102978120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6120 Neighboring gene uncharacterized LOC105370680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:102995075-102995576

    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. Genome-wide RNAi ionomics screen reveals new genes and regulation of human trace element metabolism. Malinouski M, et al. Nat Commun, 2014. PMID 24522796, Free PMC Article
    2. ANKRD9 is a metabolically-controlled regulator of IMPDH2 abundance and macro-assembly. Hayward D, et al. J Biol Chem, 2019 Sep 27. PMID 31337707, Free PMC Article
    3. ANKRD9 is associated with tumor suppression as a substrate receptor subunit of ubiquitin ligase. Lee Y, et al. Biochim Biophys Acta Mol Basis Dis, 2018 Oct. PMID 30293565
    4. BIK ubiquitination by the E3 ligase Cul5-ASB11 determines cell fate during cellular stress. Chen FY, et al. J Cell Biol, 2019 Sep 2. PMID 31387940, Free PMC Article
    5. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Arking DE, et al. Nat Genet, 2014 Aug. PMID 24952745, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC21990

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-like ligase-substrate adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular 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

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    Preferred Names
    ankyrin repeat domain-containing protein 9

    NCBI Reference Sequences (RefSeq)

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    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_001348651.2 → NP_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
      A8K753, Q96BM1
      UniProtKB/TrEMBL
      H0YM08
      Related
      ENSP00000453417.1, ENST00000559404.5
      Conserved Domains (2) summary
      cd00204
      Location:119 → 198
      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:158 → 189
      ANK; ANK repeat [structural motif]

    2. NM_001348652.2 → NP_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
      A8K753, Q96BM1
      UniProtKB/TrEMBL
      H0YM08
      Related
      ENSP00000453650.1, ENST00000560748.5
      Conserved Domains (2) summary
      cd00204
      Location:119 → 198
      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:158 → 189
      ANK; ANK repeat [structural motif]

    3. NM_152326.4 → NP_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
      A8K753, Q96BM1
      UniProtKB/TrEMBL
      H0YM08
      Related
      ENSP00000286918.4, ENST00000286918.9
      Conserved Domains (2) summary
      cd00204
      Location:119 → 198
      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:158 → 189
      ANK; ANK repeat [structural motif]

    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_000014.9 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      96737669..96745678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BM1.1 GenPept UniProtKB/Swiss-Prot:Q96BM1

    Gene LinkOut

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

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