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

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

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
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Genomic context

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

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_015351.2NP_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:130159
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:165197
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:127195
    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)