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

Gene ID: 7268, updated on 1-Jun-2020

Summary

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
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

Genomic context

See TTC4 in Genome Data Viewer
Location:
1p32.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (54715822..54742657)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55181495..55208330)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 11 Neighboring gene family with sequence similarity 151 member A Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene maestro heat like repeat family member 7 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial Neighboring gene tetratricopeptide repeat domain 22

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5097, FLJ41930, DKFZp781B0622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tetratricopeptide repeat protein 4
Names
TPR repeat protein 4

NCBI Reference Sequences (RefSeq)

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_001291333.1NP_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:79107
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:78148
    TPR_11; TPR repeat
    pfam13432
    Location:123181
    TPR_16; Tetratricopeptide repeat
  2. NM_004623.5NP_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
    Related
    ENSP00000360329.3, ENST00000371281.4
    Conserved Domains (4) summary
    sd00006
    Location:79107
    TPR; TPR repeat [structural motif]
    pfam05766
    Location:173236
    NinG; Bacteriophage Lambda NinG protein
    pfam13414
    Location:78148
    TPR_11; TPR repeat
    pfam13432
    Location:123181
    TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    54715822..54742657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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