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    TTC9 tetratricopeptide repeat domain 9 [ Homo sapiens (human) ]

    Gene ID: 23508, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TTC9provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 9provided by HGNC
    Primary source
    HGNC:HGNC:20267
    See related
    Ensembl:ENSG00000133985 MIM:610488; AllianceGenome:HGNC:20267
    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
    TTC9A
    Summary
    This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]
    Expression
    Biased expression in esophagus (RPKM 24.9), brain (RPKM 6.0) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC9 in Genome Data Viewer
    Location:
    14q24.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70641916..70675366)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64847902..64881350)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (71108633..71142083)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:71066874-71068073 Neighboring gene mediator complex subunit 6 Neighboring gene keratin 18 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8655 Neighboring gene RNA, 7SL, cytoplasmic 77, pseudogene Neighboring gene TTC9 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:71102515-71103714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5889 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:71120238-71120824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:71133100-71133600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:71133601-71134101 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:71164525-71165724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8660 Neighboring gene long intergenic non-protein coding RNA 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8661 Neighboring gene mitogen-activated protein kinase kinase kinase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:71208701-71209202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5891 Neighboring gene MAP3K9 divergent transcript

    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. Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome. Wang X, et al. Eur J Dermatol, 2018 Aug 1. PMID 30325323
    2. Tetratricopeptide repeat domain 9A is an interacting protein for tropomyosin Tm5NM-1. Cao S, et al. BMC Cancer, 2008 Aug 12. PMID 18699990, Free PMC Article
    3. Identification of tetratricopeptide repeat domain 9, a hormonally regulated protein. Cao S, et al. Biochem Biophys Res Commun, 2006 Jun 23. PMID 16678794
    4. Tetratricopeptide repeat domain 9A negatively regulates estrogen receptor alpha activity. Shrestha S, et al. Int J Biol Sci, 2015. PMID 25798063, Free PMC Article
    5. A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Al Olama AA, et al. Nat Genet, 2014 Oct. PMID 25217961, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [A pan-cancer analysis of TTC9A expression level and its correlation with prognosis and immune microenvironment].
      Title: [A pan-cancer analysis of TTC9A expression level and its correlation with prognosis and immune microenvironment].
    2. In this study, we propose a molecular mechanism whereby TTC9 mutations function to generate ichthyosiform hyperkeratosis of the skin, either directly or indirectly through altered myofibroblasts and altered hormone regulation.
      Title: Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome.
    3. It is plausible therefore that TTC9A negatively regulates ERalpha activity through interacting with co-chaperone proteins such as FKBP38 and FKBP51.
      Title: Tetratricopeptide repeat domain 9A negatively regulates estrogen receptor alpha activity.
    4. TTC9A acts as a chaperone protein to facilitate the function of tropomyosins (including Tm5NM-1) in stabilizing microfilament and it may play a role in cancer cell invasion and metastasis
      Title: Tetratricopeptide repeat domain 9A is an interacting protein for tropomyosin Tm5NM-1.
    Submit: New GeneRIF Correction

    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
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0227

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 9A
    Names
    TPR repeat protein 9A

    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.

    Genomic

    1. NG_012648.2 RefSeqGene

      Range
      5130..38580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015351.2 → NP_056166.1  tetratricopeptide repeat protein 9A

      See identical proteins and their annotated locations for NP_056166.1

      Status: REVIEWED

      Source sequence(s)
      AC004816, BX407741, D86980
      Consensus CDS
      CCDS45132.1
      UniProtKB/Swiss-Prot
      Q86WT2, Q92623
      Related
      ENSP00000256367.2, ENST00000256367.3
      Conserved Domains (3) summary
      sd00006
      Location:130 → 159
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:165 → 197
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:127 → 195
      TPR_11; TPR repeat

    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
      70641916..70675366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      64847902..64881350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92623.3 GenPept UniProtKB/Swiss-Prot:Q92623

    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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