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

Gene ID: 23508, updated on 11-Jun-2021

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
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
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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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (70641916..70675366)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (71108633..71142083)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 6 Neighboring gene keratin 18 pseudogene 7 Neighboring gene RNA, 7SL, cytoplasmic 77, pseudogene Neighboring gene TTC9 divergent transcript Neighboring gene long intergenic non-protein coding RNA 1269 Neighboring gene mitogen-activated protein kinase kinase kinase 9 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 (9) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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

Associated conditions

Description Tests
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
GeneReviews: Not available

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

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

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
    Q92623
    UniProtKB/TrEMBL
    A0A024R6B1
    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: 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
    70641916..70675366
    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.

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