TBC1D1 - TBC1 domain family member 1 Gene

Also Known as TBC; TBC1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23216

About TBC1D1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:37,891,084-38,139,173 (from NCBI)

This gene has 20 transcripts (splice variants), 206 orthologues and 45 paralogues. Ubiquitous expression in endometrium (RPKM 22.4), kidney (RPKM 18.2) and 24 other tissues.

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, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]

TBC1D1 Products (6)

mRNA Protein Name
NM_001253912.2 NP_001240841.1 TBC1 domain family member 1 isoform 2
NM_001253913.2 NP_001240842.1 TBC1 domain family member 1 isoform 3
NM_001253914.2 NP_001240843.1 TBC1 domain family member 1 isoform 3
NM_001253915.2 NP_001240844.1 TBC1 domain family member 1 isoform 4
NM_001396959.1 NP_001383888.1 TBC1 domain family member 1 isoform 5
NM_015173.4 NP_055988.2 TBC1 domain family member 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22354992 GOA
Biological Process GO Annotation Evidence References Source
NOT involved in regulation of cilium assembly IMP
IMP: Inferred from mutant phenotype
17646400 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBC1D1 Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (286 - 376)

DUF3350

DUF3350: Domain of unknown function (DUF3350) (690 - 745)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (805 - 1014)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1168 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 1

  • TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1

TBC1D1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TBC1D1 Q86TI0 TNNC2 Homo sapiens P02585
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 TNNC2 Homo sapiens P02585
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 PNKP Homo sapiens Q96T60
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 KRT75 Homo sapiens O95678
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 KRT75 Homo sapiens O95678
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra
TBC1D1 Q86TI0 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra
TBC1D1 Q86TI0 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 CCDC185 Homo sapiens Q8N715
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
Intra
TBC1D1 Q86TI0 SYTL4 Homo sapiens Q96C24
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Warburg Micro Syndrome 1

  • Warburg Micro Syndrome

  • Micro Syndrome

  • Warbm

  • WARBM1

  • Warburg Sjo Fledelius Syndrome

  • Warburg-Sjo-Fledelius Syndrome

  • Micro Syndrome 1

  • Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Colloid Adenoma

  • Macrofollicular Adenoma
Warburg Micro Syndrome 3

  • WARBM3

  • Micro Syndrome 3
Warburg Micro Syndrome 2

  • WARBM2

  • Micro Syndrome 2
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14230 TBC1D1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus TBC1D1 VGNC VGNC:35623
Mus musculus TBC1D1 MGD MGI:1889508
Felis catus TBC1D1 VGNC VGNC:107471
Canis familiaris TBC1D1 VGNC VGNC:47129
Macaca mulatta TBC1D1 VGNC VGNC:78103
Rattus norvegicus TBC1D1 RGD RGD:1304562
Others TBC1D1 NCBI