Gene Gene information from NCBI Gene database.
Entrez ID 55171
Gene name TBCC domain containing 1
Gene symbol TBCCD1
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q27.3
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT006245 hsa-miR-195-5p Luciferase reporter assayWestern blot 22217655
MIRT006245 hsa-miR-195-5p Luciferase reporter assayWestern blot 22217655
MIRT006245 hsa-miR-195-5p Luciferase reporter assayWestern blot 22217655
MIRT029823 hsa-miR-26b-5p Microarray 19088304
MIRT712134 hsa-miR-4744 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619848 25546 ENSG00000113838
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVR7
Protein name TBCC domain-containing protein 1
Protein function Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07986 TBCC 329 446 Tubulin binding cofactor C Domain
Sequence
MDQSRVLLWVKAEPFIVGALQVPPPSKFSLHYLRKISTYVQIRATEGAYPRLYWSTWRHI
ACGKLQLAKDLAWLYFEIFDSLSMKTPEERLEWSEVLSNCMSEEEVEKQRNQLSVDTLQF
LLFLYIQQLNKVSLRTSLIGEEWPSPRNKSQSPDLTEKSNCHNKNWNDYSHQAFVYDHLS
DLLELLLDPKQLTASFHSTHSSLVSREAVVALSFLIEGTISRARKIYPLHELALWQPLHA
DSGFSKISKTFSFYKLETWLRSCLTGNPFGTSACLKSGKKLAWAHQVEGTTKRAKIACNT
HVAPRMHRLVVMSQVYKQTLAKSSDTLAGAHVKIHRCNESFIYLLSPLRSVTIEKCRNSI
FVLGPVGTTLHLHSCDNVKVIAVCHRLSISSTTGCIFHVLTPTRPLILSGNQTVTFAPFH
THYPMLEDHMARTGLATVPNYWDNPM
VVCRENSDTRVFQLLPPCEFYVFIIPFEMEGDTT
EIPGGLPSVYQKALGQREQKIQIWQKTVKEAHLTKDQRKQFQVLVENKFYEWLINTGHRQ
QLDSLVPPAAGSKQAAG
Sequence length 557
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations