FRG1
entrez
2483
canonical
uniprot
Q14331
canonical
ensembl
ENSG00000109536
resolver
ensembl
ENSG00000275145
resolver
ensembl
ENSG00000283153
resolver
ensembl
ENSG00000283630
resolver
ensp
ENSP00000226798
resolver
ensp
ENSP00000483471
resolver
ensp
ENSP00000489690
resolver
ensp
ENSP00000490541
resolver
enst
ENST00000226798
resolver
enst
ENST00000620886
resolver
enst
ENST00000636590
resolver
enst
ENST00000637998
resolver
genesymbol
FRG1
resolver
hgnc
HGNC:3954
resolver
uniprot
A8K775
resolver
uniprot_entry
FRG1_HUMAN
resolver
uniprot_sec
A8K775
resolver
amino_acid_sequence
MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTIAIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK
uniprot
proteins
disease_involvement
DISEASE: Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269|PubMed:16341202, ECO:0000269|PubMed:23720823}. Note=The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of KMT5B, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs. {ECO:0000269|PubMed:16341202, ECO:0000269|PubMed:23720823}.
uniprot
proteins
function
FUNCTION: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}.
uniprot
proteins
mass_dalton
29172
uniprot
proteins
protein_family
FRG1 family
uniprot
proteins
pubmed
10512680
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15060122
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16341202
uniprot
proteins
pubmed
17103222
uniprot
proteins
pubmed
20970242
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21699900
uniprot
proteins
pubmed
23720823
uniprot
proteins
pubmed
8733123
uniprot
proteins
sequence_length
258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, Cajal body {ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:17103222, ECO:0000269|PubMed:21699900}. Nucleus, nucleolus {ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900}. Cytoplasm {ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:20970242}. Note=Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation (PubMed:20970242). Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation (PubMed:20970242). {ECO:0000269|PubMed:20970242}.
uniprot
proteins