Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBC1D7 Gene

Aliases for TBC1D7 Gene

  • TBC1 Domain Family, Member 7 2 3
  • TBC7 3 4 6
  • Cell Migration-Inducing Protein 23 3 4
  • MGCPH 3 6
  • PIG51 3 6
  • TBC1 Domain Family Member 7 3

External Ids for TBC1D7 Gene

Summaries for TBC1D7 Gene

Entrez Gene Summary for TBC1D7 Gene

  • 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. [provided by RefSeq, Dec 2013]

GeneCards Summary for TBC1D7 Gene

TBC1D7 (TBC1 Domain Family, Member 7) is a Protein Coding gene. Diseases associated with TBC1D7 include isolated megalencephaly and macrocephaly/megalencephaly syndrome, autosomal recessive.

UniProtKB/Swiss-Prot for TBC1D7 Gene

  • Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D7 Gene

Genomics for TBC1D7 Gene

Genomic Location for TBC1D7 Gene

Start:
13,266,542 bp from pter
End:
13,328,583 bp from pter
Size:
62,042 bases
Orientation:
Minus strand

Genomic View for TBC1D7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D7 Gene

Regulatory Elements for TBC1D7 Gene

Proteins for TBC1D7 Gene

  • Protein details for TBC1D7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0N9-TBCD7_HUMAN
    Recommended name:
    TBC1 domain family member 7
    Protein Accession:
    Q9P0N9
    Secondary Accessions:
    • E7EV96
    • Q2TU37
    • Q53F44
    • Q5SZL7
    • Q86VM8
    • Q96MB8

    Protein attributes for TBC1D7 Gene

    Size:
    293 amino acids
    Molecular mass:
    33972 Da
    Quaternary structure:
    • Component of the TSC-TBC complex (also named Rhebulator complex), composed of the TSC1-TSC2 heterodimer and TBC1D7. Interacts with TSC1 (via C-terminal half of the coiled-coil domain).

    Three dimensional structures from OCA and Proteopedia for TBC1D7 Gene

    Alternative splice isoforms for TBC1D7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D7 Gene

Proteomics data for TBC1D7 Gene at MOPED

Post-translational modifications for TBC1D7 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys165, Lys208, and Lys277

No data available for DME Specific Peptides for TBC1D7 Gene

Domains for TBC1D7 Gene

Protein Domains for TBC1D7 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TBCD7_HUMAN
Domain:
  • Contains 1 Rab-GAP TBC domain.:
    • Q9P0N9
genes like me logo Genes that share domains with TBC1D7: view

No data available for Gene Families for TBC1D7 Gene

Function for TBC1D7 Gene

Molecular function for TBC1D7 Gene

UniProtKB/Swiss-Prot Function: Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.

Gene Ontology (GO) - Molecular Function for TBC1D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17646400
GO:0005515 protein binding IPI 17658474
GO:0017137 Rab GTPase binding IPI 17646400
genes like me logo Genes that share ontologies with TBC1D7: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TBC1D7 Gene

Localization for TBC1D7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D7 Gene

Cytoplasmic vesicle. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D7 Gene COMPARTMENTS Subcellular localization image for TBC1D7 gene
Compartment Confidence
cytosol 2
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBC1D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016023 cytoplasmic membrane-bounded vesicle IEA --
GO:0031410 cytoplasmic vesicle IDA 17658474
GO:0036064 ciliary basal body IDA 17646400
genes like me logo Genes that share ontologies with TBC1D7: view

Pathways for TBC1D7 Gene

SuperPathways for TBC1D7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031398 positive regulation of protein ubiquitination IDA 17658474
GO:0032007 negative regulation of TOR signaling IMP 22795129
GO:0033126 obsolete positive regulation of GTP catabolic process --
GO:0070848 response to growth factor IMP 22795129
GO:0090630 activation of GTPase activity IMP 22795129
genes like me logo Genes that share ontologies with TBC1D7: view

No data available for Pathways by source for TBC1D7 Gene

Transcripts for TBC1D7 Gene

Unigene Clusters for TBC1D7 Gene

TBC1 domain family, member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - -
SP10: - - - - - - -
SP11: - - - - -
SP12: - - - -
SP13: - - -
SP14: - - -
SP15: - - - - - - -

Relevant External Links for TBC1D7 Gene

GeneLoc Exon Structure for
TBC1D7
ECgene alternative splicing isoforms for
TBC1D7

Expression for TBC1D7 Gene

mRNA expression in normal human tissues for TBC1D7 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D7 Gene

SOURCE GeneReport for Unigene cluster for TBC1D7 Gene Hs.484678

mRNA Expression by UniProt/SwissProt for TBC1D7 Gene

Q9P0N9-TBCD7_HUMAN
Tissue specificity: Highly expressed in heart, and slightly in kidney, liver and placenta.
genes like me logo Genes that share expressions with TBC1D7: view

Orthologs for TBC1D7 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D7 36
  • 99.32 (n)
  • 99.32 (a)
TBC1D7 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D7 36
  • 87.49 (n)
  • 90.78 (a)
TBC1D7 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D7 36
  • 90.44 (n)
  • 93.17 (a)
TBC1D7 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d7 36
  • 84.76 (n)
  • 90.78 (a)
Tbc1d7 16
Tbc1d7 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D7 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D7 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d7 36
  • 85.32 (n)
  • 91.47 (a)
chicken
(Gallus gallus)
Aves TBC1D7 36
  • 75.34 (n)
  • 78.08 (a)
TBC1D7 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D7 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20842 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16760 36
tbc1d7 36
  • 72.49 (n)
  • 75.34 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d7 36
  • 65.64 (n)
  • 66.1 (a)
tbc1d7 37
  • 66 (a)
OneToOne
zgc73291 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002392 36
  • 47.6 (n)
  • 37.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6182 36
  • 44.57 (n)
  • 34.43 (a)
CG6182 37
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToOne
Species with no ortholog for TBC1D7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D7 Gene

ENSEMBL:
Gene Tree for TBC1D7 (if available)
TreeFam:
Gene Tree for TBC1D7 (if available)

Paralogs for TBC1D7 Gene

genes like me logo Genes that share paralogs with TBC1D7: view

No data available for Paralogs for TBC1D7 Gene

Variants for TBC1D7 Gene

Sequence variations from dbSNP and Humsavar for TBC1D7 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs480122 -- 13,316,852(+) AGTCC(A/C)TCCCT intron-variant
rs480329 -- 13,316,773(+) TTTAA(C/T)AAAAA intron-variant
rs482227 -- 13,316,573(+) CACCA(A/G)CTGGG synonymous-codon, reference, intron-variant, nc-transcript-variant
rs498338 -- 13,318,633(+) TTAAC(A/G)TCAAA intron-variant
rs538190 -- 13,327,545(-) GCTAC(A/G)CTTAA intron-variant

Relevant External Links for TBC1D7 Gene

HapMap Linkage Disequilibrium report
TBC1D7
Human Gene Mutation Database (HGMD)
TBC1D7

No data available for Structural Variations from Database of Genomic Variants (DGV) for TBC1D7 Gene

Disorders for TBC1D7 Gene

(1) OMIM Diseases for TBC1D7 Gene (612655)

UniProtKB/Swiss-Prot

TBCD7_HUMAN
  • Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH) [MIM:248000]: A disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. {ECO:0000269 PubMed:23687350, ECO:0000269 PubMed:24515783}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D7

Genetic Association Database (GAD)
TBC1D7
Human Genome Epidemiology (HuGE) Navigator
TBC1D7
genes like me logo Genes that share disorders with TBC1D7: view

Publications for TBC1D7 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Functional dissection of Rab GTPases involved in primary cilium formation. (PMID: 17646400) Yoshimura S. … Barr F.A. (J. Cell Biol. 2007) 2 3
  5. Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex. (PMID: 17658474) Nakashima A. … Yonezawa K. (Biochem. Biophys. Res. Commun. 2007) 3 4

Products for TBC1D7 Gene

Sources for TBC1D7 Gene

Back to Top

Content