U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TTC4 tetratricopeptide repeat domain 4 [ Homo sapiens (human) ]

Gene ID: 7268, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
TTC4provided by HGNC
Official Full Name
tetratricopeptide repeat domain 4provided by HGNC
Primary source
HGNC:HGNC:12394
See related
Ensembl:ENSG00000243725 MIM:606753; AllianceGenome:HGNC:12394
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
CNS1
Summary
This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in testis (RPKM 12.6), ovary (RPKM 7.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p32.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54715861..54742657)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54596115..54622890)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55181534..55208330)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1065 Neighboring gene family with sequence similarity 151 member A Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:55102633-55103264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106005-55106518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106519-55107031 Neighboring gene MPRA-validated peak242 silencer Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene maestro heat like repeat family member 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55145240-55146100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55164253-55164753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55163752-55164252 Neighboring gene MPRA-validated peak243 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55181271-55181772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55229956-55230579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55246797-55247339 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55247340-55247881 Neighboring gene uncharacterized LOC124904182 Neighboring gene Sharpr-MPRA regulatory region 10932 Neighboring gene tetratricopeptide repeat domain 22

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells. He X, et al. FASEB J, 2020 Sep. PMID 33000523
  2. Molecular cochaperones: tumor growth and cancer treatment. Calderwood SK. Scientifica (Cairo), 2013. PMID 24278769, Free PMC Article
  3. TTC4, a novel candidate tumor suppressor gene at 1p31 is often mutated in malignant melanoma of the skin. Poetsch M, et al. Oncogene, 2000 Nov 23. PMID 11126369
  4. Genomic structure of the human tetratricopeptide repeat-containing gene, TTC4, from chromosome region 1p31 and mutation analysis in breast cancers. Su G, et al. Int J Mol Med, 2000 Feb. PMID 10639601
  5. TTC4, a novel human gene containing the tetratricopeptide repeat and mapping to the region of chromosome 1p31 that is frequently deleted in sporadic breast cancer. Su G, et al. Genomics, 1999 Jan 15. PMID 9933562

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells.
    Title: Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells.
  2. Study identified TTC4 as a TBK1 interactor and positive regulator of Sendai virus-induced innate immunity.
    Title: Quantitative Proteomics Identified TTC4 as a TBK1 Interactor and a Positive Regulator of SeV-Induced Innate Immunity.
  3. Studies identi fi ed a novel signal of nuclear localization (NLS) in all MSL1 protein isoforms and found that the combination of both NLS allows for its intra-nuclear focal accumulation and nuclear transport of TTC4 while all MSL1 isoforms affect H4K16Ac.
    Title: Two distinct nuclear localization signals in mammalian MSL1 regulate its function.
  4. TTC4 is highly expressed in malignant melanoma
    Title: The human TPR protein TTC4 is a putative Hsp90 co-chaperone which interacts with CDC6 and shows alterations in transformed cells.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC5097, FLJ41930, DKFZp781B0622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Hsp90 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in defense response to virus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
tetratricopeptide repeat protein 4
Names
TPR repeat protein 4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_029058.1 RefSeqGene

    Range
    5040..31836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291333.2 → NP_001278262.1  tetratricopeptide repeat protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001278262.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL139244
    Conserved Domains (3) summary
    sd00006
    Location:79 → 107
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:78 → 148
    TPR_11; TPR repeat
    pfam13432
    Location:123 → 181
    TPR_16; Tetratricopeptide repeat

  2. NM_004623.5 → NP_004614.3  tetratricopeptide repeat protein 4 isoform 1

    See identical proteins and their annotated locations for NP_004614.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK025524, AK222562, DB362353
    Consensus CDS
    CCDS596.1
    UniProtKB/Swiss-Prot
    O95801, Q53Y95, Q5TA96, Q9H3I2
    Related
    ENSP00000360329.3, ENST00000371281.4
    Conserved Domains (4) summary
    sd00006
    Location:79 → 107
    TPR; TPR repeat [structural motif]
    pfam05766
    Location:173 → 236
    NinG; Bacteriophage Lambda NinG protein
    pfam13414
    Location:78 → 148
    TPR_11; TPR repeat
    pfam13432
    Location:123 → 181
    TPR_16; Tetratricopeptide 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    54715861..54742657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    54596115..54622890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95801.3 GenPept UniProtKB/Swiss-Prot:O95801

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous