Gene Gene information from NCBI Gene database.
Entrez ID 55761
Gene name Tetratricopeptide repeat domain 17
Gene symbol TTC17
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p12-p11.2
miRNA miRNA information provided by mirtarbase database.
223
miRTarBase ID miRNA Experiments Reference
MIRT023975 hsa-miR-1-3p Proteomics 18668040
MIRT031893 hsa-miR-16-5p Proteomics 18668040
MIRT1460867 hsa-miR-1 CLIP-seq
MIRT1460868 hsa-miR-103a CLIP-seq
MIRT1460869 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24475127
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 24475127
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619388 25596 ENSG00000052841
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AE7
Protein name Tetratricopeptide repeat protein 17 (TPR repeat protein 17)
Protein function Plays a role in primary ciliogenesis by modulating actin polymerization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 295 328 Tetratricopeptide repeat Repeat
PF13181 TPR_8 691 722 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in germ cells as well as in somatic cells of the testis (at protein level). {ECO:0000269|PubMed:24475127}.
Sequence
MAAAVGVRGRYELPPCSGPGWLLSLSALLSVAARGAFATTHWVVTEDGKIQQQVDSPMNL
KHPHDLVILMRQEATVNYLKELEKQLVAQKIHIEENEDRDTGLEQRHNKEDPDCIKAKVP
LGDLDLYDGTYITLESKDISPEDYIDTESPVPPDPEQPDCTKILELPYSIHAFQHLRGVQ
ERVNLSAPLLPKEDPIFTYLSKRLGRSIDDIGHLIHEGLQKNTSSWVLYNMASFYWRIKN
EPYQVVECAMRALHFSSRHNKDIALVNLANVLHRAHFSADAAVVVHAALDDSDFFTSYYT
LGNIYAMLGEYNHSVLCYDHALQARPGF
EQAIKRKHAVLCQQKLEQKLEAQHRSLQRTLN
ELKEYQKQHDHYLRQQEILEKHKLIQEEQILRNIIHETQMAKEAQLGNHQICRLVNQQHS
LHCQWDQPVRYHRGDIFENVDYVQFGEDSSTSSMMSVNFDVQSNQSDINDSVKSSPVAHS
ILWIWGRDSDAYRDKQHILWPKRADCTESYPRVPVGGELPTYFLPPENKGLRIHELSSDD
YSTEEEAQTPDCSITDFRKSHTLSYLVKELEVRMDLKAKMPDDHARKILLSRINNYTIPE
EEIGSFLFHAINKPNAPIWLILNEAGLYWRAVGNSTFAIACLQRALNLAPLQYQDVPLVN
LANLLIHYGLHLDATKLLLQALAINSSEPLTFLSLGNAYLALKNISGALEAFRQALKLTT
KC
PECENSLKLIRCMQFYPFLYNITSSVCSGTVVEESNGSDEMENSDETKMSEEILALVD
EFQQAWPLEGFGGALEMKGRRLDLQGIRVLKKGPQDGVARSSCYGDCRSEDDEATEWITF
QVKRVKKPKGDHKKTPGKKVETGQIENGHRYQANLEITGPKVASPGPQGKKRDYQRLGWP
SPDECLKLRWVELTAIVSTWLAVSSKNIDITEHIDFATPIQQPAMEPLCNGNLPTSMHTL
DHLHGVSNRASLHYTGESQLTEVLQNLGKDQYPQQSLEQIGTRIAKVLEKNQTSWVLSSM
AALYWRVKGQGKKAIDCLRQALHYAPHQMKDVPLISLANILHNAKLWNDAVIVATMAVEI
APHFAVNHFTLGNVYVAMEEFEKALVWYESTLKLQPEFVPAKNRIQTIQCHLMLKKGRRS
P
Sequence length 1141
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thymoma Uncertain significance ClinVar
★★☆☆☆
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
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 30519852 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of esophagus Esophagus Neoplasm BEFREE 30519852
★☆☆☆☆
Found in Text Mining only