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

Summary

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

Location:: 14q24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (70641916..70675366)
RS_2023_03	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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005T47 (e-PCR)
- UniSTS:77316

G20494 (e-PCR)
- UniSTS:77317

G38244 (e-PCR)
- UniSTS:55308

RH25433 (e-PCR)
- UniSTS:24351

G38256 (e-PCR)
- UniSTS:79943

G38116 (e-PCR)
- UniSTS:75336

WI-20573 (e-PCR)
- UniSTS:65368

STS-Z40406 (e-PCR)
- UniSTS:60505

SHGC-3622 (e-PCR)
- UniSTS:86621

G20823 (e-PCR)
- UniSTS:56182

A006H41 (e-PCR)
- UniSTS:56183

D14S906 (e-PCR)
- UniSTS:154252

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

NG_012648.2 RefSeqGene

Range

5130..38580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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