Homo sapiens (human): 2483
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FRG1
Fascin
DUF569
DUF2235
Motif
Other DBs
NCBI-GeneID:
2483
NCBI-ProteinID:
NP_004468
OMIM:
601278
HGNC:
3954
Ensembl:
ENSG00000109536
UniProt:
Q14331
Structure
PDB
LinkDB
All DBs
Position
4:189940872..189963192
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AA seq
258 aa
AA seq
DB search
MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTI
AIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGIN
SDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKI
RSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFL
HETLLDRRAKLKADRYCK
NT seq
777 nt
NT seq
+upstream
nt +downstream
nt
atggccgagtactcctacgtgaagtctaccaagctcgtgctcaagggaaccaagacgaag
agtaagaagaaaaagagcaaagataagaaaagaaaaagagaagaagatgaagaaacccag
cttgatattgttggaatctggtggacagtaacaaactttggtgaaatttcaggaaccata
gccattgaaatggataagggaacctatatacatgcactcgacaatggtctttttaccctg
ggagctccacacaaagaagttgatgagggccctagtcctccagagcagtttacggctgtc
aaattatctgattccagaatcgccctgaagtctggctatggaaaatatcttggtataaat
tcagatggacttgttgttgggcgttcagatgcaattggaccaagagaacaatgggaacca
gtctttcaaaatgggaaaatggctttgttggcctcaaatagctgctttattagatgcaat
gaagcaggggacatagaagcaaaaagtaaaacagcaggagaagaagaaatgatcaagatt
agatcctgtgctgaaagagaaaccaagaaaaaagatgacattccagaagaagacaaagga
aatgtaaaacaatgtgaaatcaattatgtaaagaaatttcagagcttccaagaccacaaa
cttaaaataagtaaagaagacagtaaaattcttaaaaaggctcggaaagatggatttttg
catgagacgcttctggacaggagagccaaattgaaagccgacagatactgcaagtga
DBGET
integrated database retrieval system