TBC1D1 (TBC1 domain family member 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23216
Gene name TBC1 domain family member 1
Gene symbol TBC1D1
Synonyms (NCBI Gene)
TBCTBC1
Chromosome 4
Chromosome location 4p14
Summary TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, an
miRNA miRNA information provided by mirtarbase database.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
miRTarBase ID miRNA Experiments Reference
MIRT006523 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006523 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006523 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT006523 hsa-miR-125b-5p Luciferase reporter assay 19635812
MIRT016481 hsa-miR-193b-3p Microarray 20304954
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 22354992, 24879834, 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609850 11578 ENSG00000065882
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TI0
Protein name TBC1 domain family member 1
Protein function May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose
PDB 3QYE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 277 → 381 Phosphotyrosine interaction domain (PTB/PID) Domain
PF11830 DUF3350 690 → 745 Domain of unknown function (DUF3350) Family
PF00566 RabGAP-TBC 803 → 1014 Rab-GTPase-TBC domain Family
Sequence 
MEPITFTARKHLLSNEVSVDFGLQLVGSLPVHSLTTMPMLPWVVAEVRRLSRQSTRKEPV
TKQVRLCVSPSGLRCEPEPGRSQQWDPLIYSSIFECKPQRVHKLIHNSHDPSYFACLIKE
DAVHRQSICYVFKADDQTKVPEIISSIRQAGKIARQEELHCPSEFDDTFSKKFEVLFCGR
VTVAHKKAPPALIDECIEKFNHVSGSRGSESPRPNPPHAAPTGSQEPVRRPMRKSFSQPG
LRSLAFRKELQDGGLRSSGFFSSFEESDIENHLISGHNIVQPTDIEENRTMLFTIGQSEV
YLISPDTKKIALEKNFKEISFCSQGIRHVDHFGFICRESSGGGGFHFVCYVFQCTNEALV
DEIMMTLKQAFTVAAVQQTAKAPAQLCEGCPLQSLHKLCERIEGMNSSKTKLELQKHLTT
LTNQEQATIFEEVQKLRPRNEQRENELIISFLRCLYEEKQKEHIHIGEMKQTSQMAAENI
GSELPPSATRFRLDMLKNKAKRSLTESLESILSRGNKARGLQEHSISVDLDSSLSSTLSN
TSKEPSVCEKEALPISESSFKLLGSSEDLSSDSESHLPEEPAPLSPQQAFRRRANTLSHF
PIECQEPPQPARGSPGVSQRKLMRYHSVSTETPHERKDFESKANHLGDSGGTPVKTRRHS
WRQQIFLRVATPQKACDSSSRYEDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSREL
RELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLKEVTTVWEKMLST
PGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQ
LTSQQHAILIDLGRTFPTHPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGIL
LLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQIQMYQLSRLLHDYHRDLYNHLEEHEI
GPSLYAAPWFLTMFASQFPLGFVARVFDMIFLQGTEVIFKVALSLLGSHKPLILQHENLE
TIVDFIKSTLPNLGLVQMEKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRM
DKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALL
QTVEELRRRSAEPSDREPECTQPEPTGD
Sequence length 1168
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  AMPK signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-syndromic renal or urinary tract malformation Uncertain significance rs540156102 RCV002272916
Ovarian serous cystadenocarcinoma Benign rs150930395 RCV005911891
TBC1D1-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs747589201, rs1334206972, rs150619808, rs766074895, rs778703565, rs748001421, rs540156102, rs780598959, rs535861113, rs369686577, rs2476784503, rs748870275, rs35859249, rs752611279, rs760635855
View all (29 more)		 RCV004747240
RCV003399715
RCV003419203
RCV003410388
RCV003414212
RCV003404419
RCV003418805
RCV003899058
RCV003893911
RCV003894187
RCV003902187
RCV003974281
RCV003979545
RCV003901689
RCV003901815
RCV003901816
RCV003904094
RCV003899110
RCV003914153
RCV003933859
RCV003947366
RCV003959759
RCV003931760
RCV003941690
RCV003907393
RCV003931375
RCV003949323
RCV003957063
RCV003924665
RCV003946808
RCV003956836
RCV003957214
RCV003947264
RCV003959412
RCV003967174
RCV003976660
RCV003966772
RCV004747428
RCV003411686
RCV003928478
RCV003906001
RCV003926202
RCV003958397
RCV003918595
Thyroid cancer, nonmedullary, 1 Benign rs150930395 RCV005911892
Show/Hide Text Mining Associations (32)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic lateral sclerosis 1 Associate 29216901
Ataxia Associate 34130600
Brain Diseases Associate 34130600
Carcinogenesis Associate 38189823
Cherubism Associate 38374468
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 34130600, 38374468
Depressive Disorder Associate 38111702
Erectile Dysfunction Associate 38111702
Frontotemporal Dementia Associate 34130600
Gaucher Disease Associate 34130600