TBC1D7 - TBC1 domain family member 7 Gene

Homo sapiens

Also known as TBC7; MGCPH; PIG51

Gene ID: 51256 | Gene type: protein coding

About TBC1D7

Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:13,304,951-13,328,537 (from NCBI)

This gene has 21 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues.

Summary

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]

TBC1D7 Products(7)

mRNA	Protein	Name
NM_001143964.4	NP_001137436.1	TBC1 domain family member 7 isoform a
NM_001143965.4	NP_001137437.1	TBC1 domain family member 7 isoform a
NM_001143966.4	NP_001137438.1	TBC1 domain family member 7 isoform b
NM_001258457.3	NP_001245386.1	TBC1 domain family member 7 isoform c
NM_001318805.2	NP_001305734.1	TBC1 domain family member 7 isoform a
NM_001318806.2	NP_001305735.1	TBC1 domain family member 7 isoform d
NM_016495.6	NP_057579.1	TBC1 domain family member 7 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	17646400	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17658474	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	17646400	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of GTPase activity	IMP IMP: Inferred from mutant phenotype	22795129	GOA
involved in cellular response to starvation	IDA IDA: Inferred from direct assay	24529379	GOA
involved in negative regulation of TOR signaling	IDA IDA: Inferred from direct assay	22795129	GOA
involved in negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	22795129	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	24529379	GOA
involved in negative regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	17646400	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17658474	GOA
involved in response to growth factor	IMP IMP: Inferred from mutant phenotype	22795129	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TSC1-TSC2 complex	IDA IDA: Inferred from direct assay	24529379	GOA
part of TSC1-TSC2 complex	IPI IPI: Inferred from physical interaction	22795129	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	17646400	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	17658474	GOA
located in cytosol	IDA IDA: Inferred from direct assay	24529379	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	24529379	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

TBC1D7 Protein Structure

RabGAP-TBC

0
100
200
293 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 7

TBC domain family 7

Related Diseases

Diseases

Alias

Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive

MGCPH

Isolated Megalencephaly

Isolated Macrencephaly

Megalencephaly

Macroencephaly

Macrencephaly

Tuberous Sclerosis

Tuberous Sclerosis Syndrome	Bourneville'S Disease
Epiloia	Cerebral Sclerosis
Tuberose Sclerosis	Tuberous Sclerosis 1
Bourneville Disease	Bourneville Phakomatosis
Pringle'S Disease

Subependymal Glioma

Mixed Subependymoma-Ependymoma	Subependymal Astrocytoma
Who Grade I Ependymal Tumor	Glioma, Subependymal

Benign Ependymoma

Ependymoma	Epithelial Ependymoma
Who Grade Ii Ependymal Tumor	Myxopapillary Ependymoma

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Astigmatism

Subependymal Giant Cell Astrocytoma

Sega	Astrocytoma Subependymal Giant Cell
Subependymal Giant-Cell Astrocytoma

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

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-RS14246	TBC1D7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBC1D7	VGNC	VGNC:50071
Mus musculus	TBC1D7	MGD	MGI:1914296
Macaca mulatta	TBC1D7	VGNC	VGNC:104432
Felis catus	TBC1D7	VGNC	VGNC:102531
Canis familiaris	TBC1D7	VGNC	VGNC:49771

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