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

Gene ID: 7265, updated on 5-Mar-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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Location:
5q33.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160009139..160065543)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160537708..160594091)
105.20220307 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

Expression

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  • 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

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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. 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
  3. 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
  4. Identification and characterization of two novel tetratricopeptide repeat-containing genes. Murthy AE, et al. DNA Cell Biol, 1996 Sep. PMID 8836031
  5. Cooperative interaction of Hsp40 and TPR1 with Hsp70 reverses Hsp70-HspBp1 complex formation. Oh WK, et al. Mol Cells, 2003 Aug 31. PMID 14503850

See all (66) 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)

Genotypes

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_2023_10

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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