KEGG   Homo sapiens (human): 2273
Entry
2273              CDS       T01001                                 
Symbol
FHL1, FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA
Name
(RefSeq) four and a half LIM domains 1
  KO
K14365  four and a half LIM domains protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04630  JAK-STAT signaling pathway
hsa04820  Cytoskeleton in muscle cells
Disease
H00563  Emery-Dreifuss muscular dystrophy
H00656  Scapuloperoneal myopathy
H00657  Reducing body myopathy
H00697  X-linked myopathy with postural muscle atrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04630 JAK-STAT signaling pathway
    2273 (FHL1)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    2273 (FHL1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    2273 (FHL1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 LIM domain-containing proteins
  FHL family proteins
   2273 (FHL1)
SSDB
Motif
Pfam: LIM Ureidogly_lyase
Other DBs
NCBI-GeneID: 2273
NCBI-ProteinID: NP_001153174
OMIM: 300163
HGNC: 3702
Ensembl: ENSG00000022267
UniProt: Q13642
Structure
Position
X:136146702..136211359
AA seq 323 aa
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF
WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGT
VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQP
WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP
VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
APVWWPMKDNPGTTTASTAKNAP
NT seq 972 nt   +upstreamnt  +downstreamnt
atggcggagaagtttgactgccactactgcagggatcccttgcaggggaagaagtatgtg
caaaaggatggccaccactgctgcctgaaatgctttgacaagttctgtgccaacacctgt
gtggaatgccgcaagcccatcggtgcggactccaaggaggtgcactataagaaccgcttc
tggcatgacacctgcttccgctgtgccaagtgccttcaccccttggccaatgagaccttt
gtggccaaggacaacaagatcctgtgcaacaagtgcaccactcgggaggactcccccaag
tgcaaggggtgcttcaaggccattgtggcaggagatcaaaacgtggagtacaaggggacc
gtctggcacaaagactgcttcacctgtagtaactgcaagcaagtcatcgggactggaagc
ttcttccctaaaggggaggacttctactgcgtgacttgccatgagaccaagtttgccaag
cattgcgtgaagtgcaacaaggccatcacatctggaggaatcacttaccaggatcagccc
tggcatgccgattgctttgtgtgtgttacctgctctaagaagctggctgggcagcgtttc
accgctgtggaggaccagtattactgcgtggattgctacaagaactttgtggccaagaag
tgtgctggatgcaagaaccccatcactgggaaaaggactgtgtcaagagtgagccaccca
gtctctaaagctaggaagcccccagtgtgccacgggaaacgcttgcctctcaccctgttt
cccagcgccaacctccggggcaggcatccgggtggagagaggacttgtccctcgtgggtg
gtggttctttatagaaaaaatcgaagcttagcagctcctcgaggcccgggtttggtaaag
gctccagtgtggtggcctatgaaggacaatcctggcacgactactgcttccactgcaaaa
aatgctccgtga

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