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    TTC1 tetratricopeptide repeat domain 1 [ Homo sapiens (human) ]

    Gene ID: 7265, updated on 17-Jun-2019

    Summary

    Official Symbol
    TTC1provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 1provided by HGNC
    Primary source
    HGNC:HGNC:12391
    See related
    Ensembl:ENSG00000113312 MIM:601963
    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
    TPR1
    Summary
    This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in brain (RPKM 29.2), heart (RPKM 23.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See TTC1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (160009100..160065545)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159436156..159492550)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927790 Neighboring gene adrenoceptor alpha 1B Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 Neighboring gene PWWP domain containing 2A Neighboring gene uncharacterized LOC105377690 Neighboring gene fatty acid binding protein 6 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene Neighboring gene cyclin J like

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ46404

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    peroxisomal membrane HDA PubMed 

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 1
    Names
    TPR repeat protein 1

    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.

    mRNA and Protein(s)

    1. NM_001282500.1NP_001269429.1  tetratricopeptide repeat protein 1

      See identical proteins and their annotated locations for NP_001269429.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC008706, AC068657, BP245572, BQ017702, DN989835, U46570
      Consensus CDS
      CCDS4348.1
      UniProtKB/Swiss-Prot
      Q99614
      Related
      ENSP00000429225.1, ENST00000522793.5
      Conserved Domains (4) summary
      smart00028
      Location:189221
      TPR; Tetratricopeptide repeats
      sd00006
      Location:119144
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:158188
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:119186
      TPR_11; TPR repeat
    2. NM_003314.3NP_003305.1  tetratricopeptide repeat protein 1

      See identical proteins and their annotated locations for NP_003305.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BP245572, U46570
      Consensus CDS
      CCDS4348.1
      UniProtKB/Swiss-Prot
      Q99614
      Related
      ENSP00000231238.4, ENST00000231238.10
      Conserved Domains (4) summary
      smart00028
      Location:189221
      TPR; Tetratricopeptide repeats
      sd00006
      Location:119144
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:158188
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:119186
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens 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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      160009100..160065545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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