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

    Gene ID: 7265, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:12391
    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
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    Genomic context

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    See TTC1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160009139..160065543)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160537708..160594091)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159436146..159492550)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene adrenoceptor alpha 1B Neighboring gene uncharacterized LOC101927790 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 Neighboring gene MPRA-validated peak5555 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159435885-159436780 Neighboring gene uncharacterized LOC124901124 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:159455528-159455695 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159469604-159470298 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159470299-159470993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:159487609-159488120 Neighboring gene MPRA-validated peak5557 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159507098-159508004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159508005-159508910 Neighboring gene PWWP domain containing 2A Neighboring gene ReSE screen-validated silencer GRCh37_chr5:159513521-159513688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23555 Neighboring gene MPRA-validated peak5558 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16575 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159546009-159546508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159588248-159588903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159589561-159590215 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159591897-159592496 Neighboring gene Sharpr-MPRA regulatory region 721 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:159593698-159594298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159602660-159603248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16579 Neighboring gene MPRA-validated peak5559 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16580 Neighboring gene FABP6 antisense RNA 1 Neighboring gene fatty acid binding protein 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16581 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159664401-159665356 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene Neighboring gene cyclin J like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Structural and functional insights into the role of the N-terminal Mps1 TPR domain in the SAC (spindle assembly checkpoint). Thebault P, et al. Biochem J, 2012 Dec 15. PMID 23067341
    2. Gα16 interacts with tetratricopeptide repeat 1 (TPR1) through its β3 region to activate Ras independently of phospholipase Cβ signaling. Liu AM, et al. BMC Struct Biol, 2011 Apr 13. PMID 21486497, Free PMC Article
    3. Activation of Ras-dependent signaling pathways by G(14) -coupled receptors requires the adaptor protein TPR1. Kwan DH, et al. J Cell Biochem, 2012 Nov. PMID 22711498
    4. Identification and characterization of two novel tetratricopeptide repeat-containing genes. Murthy AE, et al. DNA Cell Biol, 1996 Sep. PMID 8836031
    5. Specific interaction of the 70-kDa heat shock cognate protein with the tetratricopeptide repeats. Liu FH, et al. J Biol Chem, 1999 Nov 26. PMID 10567422

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TPR1 is required for Galpha14 to stimulate Ras-dependent signaling pathways, but not for the propagation of signals along Ras-independent pathways.
      Title: Activation of Ras-dependent signaling pathways by G(14) -coupled receptors requires the adaptor protein TPR1.
    2. The crystal structure of monopolar spindle 1 (Mps1) N-terminal region TPR domain has been determined.
      Title: Structural and functional insights into the role of the N-terminal Mps1 TPR domain in the SAC (spindle assembly checkpoint).
    3. beta3 region of Galpha16 is essential for interaction with TPR1 and the subsequent activation of Ras
      Title: Gα16 interacts with tetratricopeptide repeat 1 (TPR1) through its β3 region to activate Ras independently of phospholipase Cβ signaling.
    4. Results report cooperative interactions involving Hsp70, Hsp40, and TPR1 that enhance Hsp70-dependent folding of chemically denatured substrates.
      Title: Cooperative interaction of Hsp40 and TPR1 with Hsp70 reverses Hsp70-HspBp1 complex formation.
    5. Data show that tetratricopeptide repeat 1 is a novel adaptor protein for Ras and selected Galpha proteins that may be involved in protein-protein interaction relating to G-protein signaling.
      Title: Identification of tetratricopeptide repeat 1 as an adaptor protein that interacts with heterotrimeric G proteins and the small GTPase Ras.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46404

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 1
    Names
    TPR repeat protein 1

    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.

    mRNA and Protein(s)

    1. NM_001282500.2 → NP_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, DN989835, U46570
      Consensus CDS
      CCDS4348.1
      UniProtKB/Swiss-Prot
      B2RCT2, D3DQJ8, Q99614, Q9BVT3
      UniProtKB/TrEMBL
      Q53GE7, Q53HD9
      Related
      ENSP00000429225.1, ENST00000522793.5
      Conserved Domains (4) summary
      smart00028
      Location:189 → 221
      TPR; Tetratricopeptide repeats
      sd00006
      Location:119 → 144
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:158 → 188
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:119 → 186
      TPR_11; TPR repeat

    2. NM_003314.3 → NP_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
      B2RCT2, D3DQJ8, Q99614, Q9BVT3
      UniProtKB/TrEMBL
      Q53GE7, Q53HD9
      Related
      ENSP00000231238.4, ENST00000231238.10
      Conserved Domains (4) summary
      smart00028
      Location:189 → 221
      TPR; Tetratricopeptide repeats
      sd00006
      Location:119 → 144
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:158 → 188
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:119 → 186
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      160009139..160065543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      160537708..160594091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99614.1 GenPept UniProtKB/Swiss-Prot:Q99614

    Gene LinkOut

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