KEGG   Homo sapiens (human): 2483
Entry
2483              CDS       T01001                                 
Symbol
FRG1, FRG1A, FSG1
Name
(RefSeq) FSHD region gene 1
  KO
K13122  protein FRG1
Organism
hsa  Homo sapiens (human)
Disease
H00591  Facioscapulohumeral muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    2483 (FRG1)
Spliceosome [BR:hsa03041]
 Complex C
  Other components
   Complex C specific factors
    2483 (FRG1)
SSDB
Motif
Pfam: FRG1 Fascin DUF569 DUF2235
Other DBs
NCBI-GeneID: 2483
NCBI-ProteinID: NP_004468
OMIM: 601278
HGNC: 3954
Ensembl: ENSG00000109536
UniProt: Q14331
Structure
LinkDB
Position
4:189940872..189963192
AA seq 258 aa
MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTI
AIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGIN
SDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKI
RSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFL
HETLLDRRAKLKADRYCK
NT seq 777 nt   +upstreamnt  +downstreamnt
atggccgagtactcctacgtgaagtctaccaagctcgtgctcaagggaaccaagacgaag
agtaagaagaaaaagagcaaagataagaaaagaaaaagagaagaagatgaagaaacccag
cttgatattgttggaatctggtggacagtaacaaactttggtgaaatttcaggaaccata
gccattgaaatggataagggaacctatatacatgcactcgacaatggtctttttaccctg
ggagctccacacaaagaagttgatgagggccctagtcctccagagcagtttacggctgtc
aaattatctgattccagaatcgccctgaagtctggctatggaaaatatcttggtataaat
tcagatggacttgttgttgggcgttcagatgcaattggaccaagagaacaatgggaacca
gtctttcaaaatgggaaaatggctttgttggcctcaaatagctgctttattagatgcaat
gaagcaggggacatagaagcaaaaagtaaaacagcaggagaagaagaaatgatcaagatt
agatcctgtgctgaaagagaaaccaagaaaaaagatgacattccagaagaagacaaagga
aatgtaaaacaatgtgaaatcaattatgtaaagaaatttcagagcttccaagaccacaaa
cttaaaataagtaaagaagacagtaaaattcttaaaaaggctcggaaagatggatttttg
catgagacgcttctggacaggagagccaaattgaaagccgacagatactgcaagtga

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