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Protein Domain : IPR007483

Name  Hamartin Short Name  Hamartin
Type  Family Description  This family includes the hamartin protein which is thought tofunction as a tumour suppressor. The hamartin protein interacts with the tuberin protein . 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 . These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking [].

Publication Counts Displayer

0 Child Features

0 Contains

2 Cross References

Source . Name

Subject . Primary Identifier
PF04388 PFAM IPR007483

2 Data Sets

Name URL
TrEMBL data set
InterPro data set  

0 Found In

0 GO Annotation

0 Ontology Annotations

0 Parent Features

11 Proteins

DB identifier Primary Accession
Organism . Name
FBpp0083931 Q9VCC9 Drosophila melanogaster
FBpp0284008 Q298J9 Drosophila pseudoobscura
FBpp0173385 B4K7E0 Drosophila mojavensis
FBpp0228618 B4MBY7 Drosophila virilis
FBpp0268458 B4PL17 Drosophila yakuba
H1ZYA5_DROME H1ZYA5 Drosophila melanogaster
H1ZYA3_DROME H1ZYA3 Drosophila melanogaster
H1ZYA6_DROME H1ZYA6 Drosophila melanogaster
Q9U9A9_DROME Q9U9A9 Drosophila melanogaster
H1ZYA8_DROME H1ZYA8 Drosophila melanogaster
H1ZYB0_DROME H1ZYB0 Drosophila melanogaster