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

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

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    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

    Preferred Names
    tetratricopeptide repeat protein 4
    Names
    TPR repeat protein 4

    NCBI Reference Sequences (RefSeq)

    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_001291333.2NP_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, Q53Y95, Q5TA96, Q9H3I2
      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: 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)