KEGG   Homo sapiens (human): 2273Help
Entry
2273              CDS       T01001                                 

Gene name
FHL1, FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA
Definition
(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
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LIM Ureidogly_lyase
Motif
Other DBs
NCBI-GeneID: 2273
NCBI-ProteinID: NP_001153174
OMIM: 300163
HGNC: 3702
Ensembl: ENSG00000022267
Vega: OTTHUMG00000022504
Pharos: Q13642(Tbio)
UniProt: Q13642
LinkDB All DBs
Structure
PDB: 

Position
Xq26.3
AA seq 323 aa AA seqDB search
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF
WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGT
VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQP
WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP
VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
APVWWPMKDNPGTTTASTAKNAP
NT seq 972 nt NT seq  +upstreamnt  +downstreamnt
atggcggagaagtttgactgccactactgcagggatcccttgcaggggaagaagtatgtg
caaaaggatggccaccactgctgcctgaaatgctttgacaagttctgtgccaacacctgt
gtggaatgccgcaagcccatcggtgcggactccaaggaggtgcactataagaaccgcttc
tggcatgacacctgcttccgctgtgccaagtgccttcaccccttggccaatgagaccttt
gtggccaaggacaacaagatcctgtgcaacaagtgcaccactcgggaggactcccccaag
tgcaaggggtgcttcaaggccattgtggcaggagatcaaaacgtggagtacaaggggacc
gtctggcacaaagactgcttcacctgtagtaactgcaagcaagtcatcgggactggaagc
ttcttccctaaaggggaggacttctactgcgtgacttgccatgagaccaagtttgccaag
cattgcgtgaagtgcaacaaggccatcacatctggaggaatcacttaccaggatcagccc
tggcatgccgattgctttgtgtgtgttacctgctctaagaagctggctgggcagcgtttc
accgctgtggaggaccagtattactgcgtggattgctacaagaactttgtggccaagaag
tgtgctggatgcaagaaccccatcactgggaaaaggactgtgtcaagagtgagccaccca
gtctctaaagctaggaagcccccagtgtgccacgggaaacgcttgcctctcaccctgttt
cccagcgccaacctccggggcaggcatccgggtggagagaggacttgtccctcgtgggtg
gtggttctttatagaaaaaatcgaagcttagcagctcctcgaggcccgggtttggtaaag
gctccagtgtggtggcctatgaaggacaatcctggcacgactactgcttccactgcaaaa
aatgctccgtga

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