Gene Gene information from NCBI Gene database.
Entrez ID 7265
Gene name Tetratricopeptide repeat domain 1
Gene symbol TTC1
Synonyms (NCBI Gene)
TPR1
Chromosome 5
Chromosome location 5q33.3
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 signali
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT031698 hsa-miR-16-5p Proteomics 18668040
MIRT051350 hsa-miR-15a-5p CLASH 23622248
MIRT046424 hsa-miR-15b-5p CLASH 23622248
MIRT1460784 hsa-miR-1197 CLIP-seq
MIRT1460785 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 9383998, 14985359, 15708368, 25036637, 25416956, 26871637, 28514442, 30021884, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IC 22711498
GO:0005778 Component Peroxisomal membrane HDA 21525035
GO:0005829 Component Cytosol IDA
GO:0006457 Process Protein folding NAS 8836031
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601963 12391 ENSG00000113312
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99614
Protein name Tetratricopeptide repeat protein 1 (TPR repeat protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 122 149 Tetratricopeptide repeat Repeat
PF00515 TPR_1 155 188 Tetratricopeptide repeat Repeat
Sequence
MGEKSENCGVPEDLLNGLKVTDTQEAECAGPPVPDPKNQHSQSKLLRDDEAHLQEDQGEE
ECFHDCSASFEEEPGADKVENKSNEDVNSSELDEEYLIELEKNMSDEEKQKRREESTRLK
EEGNEQFKKGDYIEAESSYSRALEMCPSCFQKERSILFSNRAAARMKQDKKEMAINDCSK
AIQLNPSY
IRAILRRAELYEKTDKLDEALEDYKSILEKDPSIHQAREACMRLPKQIEERN
ERLKEEMLGKLKDLGNLVLRPFGLSTENFQIKQDSSTGSYSINFVQNPNNNR
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs1060499752 RCV000454191
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Disorders Anxiety Disorder BEFREE 23951166
★☆☆☆☆
Found in Text Mining only