2. Gene
  3. TBC1D1 - TBC1 domain family member 1 Gene

TBC1D1 - TBC1 domain family member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TBC; TBC1

Gene ID: 23216 | Gene type: protein coding

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

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)

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  • 1168 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 1

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

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