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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 (TBC1 Domain Family Member 7) is a Protein Coding gene. Diseases associated with TBC1D7 include Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive and Isolated Megalencephaly. Among its related pathways are TBC/RABGAPs and mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA,IDA | 17646400 |
GO:0005515 | protein binding | IPI | 17658474 |
GO:0017137 | Rab GTPase binding | IPI | 17646400 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0031410 | cytoplasmic vesicle | IEA,IDA | 17658474 |
GO:0036064 | ciliary basal body | IDA | 17646400 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mTOR signaling pathway (KEGG) |
.38
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2 | Vesicle-mediated transport | ||
3 | PI3K / Akt Signaling | ||
4 | TBC/RABGAPs |
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:0043547 | positive regulation of GTPase activity | IDA | 17646400 |
GO:0070848 | response to growth factor | IMP | 22795129 |
GO:0090630 | activation of GTPase activity | IMP | 22795129 |
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: | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBC1D7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBC1D7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBC1D7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TBC1D7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D7 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbc1d7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tbc1d7 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBC1D7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBC1D7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbc1d7 30 |
|
||
Str.16760 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.20842 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbc1d7 30 31 |
|
OneToOne | |
zgc73291 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002392 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6182 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
725677 | Likely Benign: not provided | 13,307,672(-) | G/A | MISSENSE_VARIANT | |
727217 | Benign: not provided | 13,307,677(-) | G/A | SYNONYMOUS_VARIANT | |
752023 | Likely Benign: not provided | 13,321,076(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
770546 | Benign: not provided | 13,306,515(-) | T/C | SYNONYMOUS_VARIANT | |
776111 | Benign: not provided | 13,307,671(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
macrocephaly/megalencephaly syndrome, autosomal recessive |
|
|
isolated megalencephaly |
|
|
megalencephaly |
|
|
tuberous sclerosis |
|
|
astigmatism |
|
|