SMART: Pfam domain FRG1

The domain within your query sequence starts at position 67 and ends at position 256; the E-value for the FRG1 domain shown below is 4.2e-82.

GAYIHALDNGLFTLGAPHREVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGINSDGLVV
GRSDAIGPREQWEPVFQDGKMALLASNSCFIRCNEAGDIEAKNKTAGEEEMIKIRSCAER
ETKKKDDIPEEDKGSVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLD
RRAKLKADRY

FRG1

PFAM accession number:	PF06229
Interpro abstract (IPR010414):	This entry represents Frg1 (FSHD region gene 1), a protein that is considered to be a candidate for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a dominant neuromuscular disorder caused by deletions in a number of tandem repeat units (called D4Z4) located on chromosome 4q35. D4Z4 contains a transcriptional silencer whose deletion causes the over-expression in skeletal muscle of 4q35 genes, including Frg1 [ (PUBMED:16341202) (PUBMED:9714712) ]. Frg1 is localised to nucleoli and appears to be a component of the human spliceosome [ (PUBMED:17103222) ]. When overexpressed, it binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila, inhibiting myogenesis as a result [ (PUBMED:23720823) ].

PFAM accession number:

PF06229

Interpro abstract (IPR010414):

This entry represents Frg1 (FSHD region gene 1), a protein that is considered to be a candidate for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a dominant neuromuscular disorder caused by deletions in a number of tandem repeat units (called D4Z4) located on chromosome 4q35. D4Z4 contains a transcriptional silencer whose deletion causes the over-expression in skeletal muscle of 4q35 genes, including Frg1 [ (PUBMED:16341202) (PUBMED:9714712) ]. Frg1 is localised to nucleoli and appears to be a component of the human spliceosome [ (PUBMED:17103222) ]. When overexpressed, it binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila, inhibiting myogenesis as a result [ (PUBMED:23720823) ].

This is a PFAM domain. For full annotation and more information, please see the PFAM entry FRG1