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

TBC1D1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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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