TBC1D31 (TBC1 domain family member 31)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 93594
Gene name TBC1 domain family member 31
Gene symbol TBC1D31
Synonyms (NCBI Gene)
Gm85WDR67
Chromosome 8
Chromosome location 8q24.13
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33934390
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IDA
GO:0005813 Component Centrosome IDA 21399614, 33934390
GO:0005813 Component Centrosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DN5
Protein name TBC1 domain family member 31 (WD repeat-containing protein 67)
Protein function Molecular adapter which is involved in cilium biogenesis. Part of a functional complex including OFD1 a centriolar protein involved in cilium assembly. Could regulate the cAMP-dependent phosphorylation of OFD1, and its subsequent ubiquitination
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 427 → 619 Rab-GTPase-TBC domain Family
Sequence 
MQSTDLGNKESGKIWHRKPSPATRDGIIVNIIHNTSDYHPKVLRFLNVAFDGTGDCLIAG
DHQGNIYVFDLHGNRFNLVQRTAQACTALAFNLRRKSEFLVALADYSIKCFDTVTKELVS
WMRGHESSVFSISVHASGKYAITTSSDTAQLWDLDTFQRKRKLNIRQSVGIQKVFFLPLS
NTILSCFKDNSIFAWECDTLFCKYQLPAPPESSSILYKVFAVTRDGRILAAGGKSNHLHL
WCLEARQLFRIIQMPTKVRAIRHLEFLPDSFDAGSNQVLGVLSQDGIMRFINMQTCKLLF
EIGSLDEGISSSAISPHGRYIASIMENGSLNIYSVQALTQEINKPPPPLVKVIEDLPKNK
LSSSDLKMKVTSGRVQQPAKSRESKMQTRILKQDLTGDFESKKNELPDGLNKKRLQILLK
GYGEYPTKYRMFIWRSLLQLPENHTAFSTLIDKGTHVAFLNLQKKYPIKSRKLLRVLQRT
LSALAHWSVIFSDTPYLPLLAFPFVKLFQNNQLICFEVIATLIINWCQHWFEYFPNPPIN
ILSMIENVLAFHDKELLQHFIDHDITSQLYAWPLLETVFSEVLTREEWLKLFDNIFSNHP
SFLLMTVVAYNICSRTPLLSCNLKDDFEFFFHHRNNLDINVVIRQVYHLMETTPTDIHPD
SMLNVFVALTKGQYPVFNQYPKFIVDYQTQERERIRNDELDYLRERQTVEDMQAKVDQQR
VEDEAWYQKQELLRKAEETRREMLLQEEEKMIQQRQRLAAVKRELKVKEMHLQDAARRRF
LKLQQDQQEMELRRLDDEIGRKVYMRDREIAATARDLEMRQLELESQKRLYEKNLTENQE
ALAKEMRADADAYRRKVDLEEHMFHKLIEAGETQSQKTQKVIKENLAKAEQACLNTDWQI
QSLHKQKCDDLQRNKCYQEVAKLLRENRRKEIEIINAMVEEEAKKWKEAEGKEFRLRSAK
KASALSDASRKWFLKQEINAAVEHAENPCHKEEPRFQNEQDSSCLPRTSQLNDSSEMDPS
TQISLNRRAVEWDTTGQNLIKKVRNLRQRLTARARHRCQTPHLLAA
Sequence length 1066
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inherited genitourinary tract anomalies Likely pathogenic rs143770939 RCV003448920
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TBC1D31-related disorder Uncertain significance; Likely benign; Benign rs2489525460, rs148335143, rs114275459, rs2129889280, rs182463278, rs61752913, rs61729926, rs747625775, rs78218780 RCV003402958
RCV003924076
RCV003902321
RCV003894341
RCV003899608
RCV003959265
RCV003947134
RCV003944272
RCV003944359
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Triple Negative Breast Neoplasms Associate 39231952