TBC1D1 - TBC1 domain family member 1 Gene

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22354992	GOA

Biological Process GO Annotation	Evidence	Reference	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

DUF3350

RabGAP-TBC

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

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	Pre-designed Sets	/	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

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