Summary: Hamartin protein
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This family includes the hamartin protein which is thought to function as a tumour suppressor. The hamartin protein interacts with the tuberin protein PF03542. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterised by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation either TSC1 or TSC2 tumour suppressor gene. TSC1 encodes a protein, hamartin, containing two coiled-coil regions, which have been shown to mediate binding to tuberin. The TSC2 gene codes for tuberin PF03542. These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking .
Dan HC, Sun M, Yang L, Feldman RI, Sui XM, Yeung RS, Halley DJ, Nicosia SV, Pledger WJ, Cheng JQ; , J Biol Chem 2002;0:0-0.: PI3K/AKT pathway regulates TSC tumor suppressor complex by phosphorylation of tuberin. PUBMED:12167664 EPMC:12167664
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR007483
This family includes the hamartin protein which is thought to function as a tumour suppressor. The hamartin protein interacts with the tuberin protein INTERPRO. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterised by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation in either TSC1 or TSC2 tumour suppressor genes. TSC1 encodes a protein, hamartin, containing two coiled-coil regions, which have been shown to mediate binding to tuberin. The TSC2 gene codes for tuberin INTERPRO. These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking [PUBMED:12167664].
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Curation and family details
|Seed source:||Wood V|
|Number in seed:||6|
|Number in full:||205|
|Average length of the domain:||536.20 aa|
|Average identity of full alignment:||25 %|
|Average coverage of the sequence by the domain:||62.51 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||7|
|Download:||download the raw HMM for this family|
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