Format

Send to:

Choose Destination

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

Gene ID: 7265, updated on 24-Nov-2020

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
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (160009139..160065543)
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 FABP6 antisense RNA 1 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 Functions

What'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_001282500.2NP_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
    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 Updated Annotation Release 109.20201120

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