KEGG   Homo sapiens (human): 2332Help
Entry
2332              CDS       T01001                                 

Gene name
FMR1, FMRP, FRAXA, POF, POF1
Definition
(RefSeq) fragile X mental retardation 1
  KO
K15516  
fragile X mental retardation protein
Organism
hsa  Homo sapiens (human)
Pathway
RNA transport
Disease
H00465  
Fragile X Syndrome
H00627  
Premature ovarian failure
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Translation
   03013 RNA transport
    2332 (FMR1)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic Type
  mRNA surveillance and transport factors
   Transport factors
    eIF4F and regulatory proteins
     2332 (FMR1)
   Factors involved in mRNA localization
    Other mRNA localization factors
     2332 (FMR1)
   mRNA cycle factors
    Stress granule specific factors
     2332 (FMR1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq27.3
AA seq 632 aa AA seqDB search
MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDIN
ESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKP
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKR
AHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFHEQFIVREDLMGLAIGTHGAN
IQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLEFAEDVIQVPRNLVGKVIGKN
GKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAPEEKKHLDIKE
NSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRG
HGRRGPGYTSGTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRG
QGGRGRGGGFKGNDDHSRTDNRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSS
EGSRLRTGKDRNQKKEKPDSVDGQQPLVNGVP
NT seq 1899 nt NT seq  +upstreamnt  +downstreamnt
atggaggagctggtggtggaagtgcggggctccaatggcgctttctacaaggcatttgta
aaggatgttcatgaagattcaataacagttgcatttgaaaacaactggcagcctgatagg
cagattccatttcatgatgtcagattcccacctcctgtaggttataataaagatataaat
gaaagtgatgaagttgaggtgtattccagagcaaatgaaaaagagccttgctgttggtgg
ttagctaaagtgaggatgataaagggtgagttttatgtgatagaatatgcagcatgtgat
gcaacttacaatgaaattgtcacaattgaacgtctaagatctgttaatcccaacaaacct
gccacaaaagatactttccataagatcaagctggatgtgccagaagacttacggcaaatg
tgtgccaaagaggcggcacataaggattttaaaaaggcagttggtgccttttctgtaact
tatgatccagaaaattatcagcttgtcattttgtccatcaatgaagtcacctcaaagcga
gcacatatgctgattgacatgcactttcggagtctgcgcactaagttgtctctgataatg
agaaatgaagaagctagtaagcagctggagagttcaaggcagcttgcctcgagatttcat
gaacagtttatcgtaagagaagatctgatgggtctagctattggtactcatggtgctaat
attcagcaagctagaaaagtacctggggtcactgctattgatctagatgaagatacctgc
acatttcatatttatggagaggatcaggatgcagtgaaaaaagctagaagctttctcgaa
tttgctgaagatgtaatacaagttccaaggaacttagtaggcaaagtaataggaaaaaat
ggaaagctgattcaggagattgtggacaagtcaggagttgtgagggtgaggattgaggct
gaaaatgagaaaaatgttccacaagaagaggaaattatgccaccaaattcccttccttcc
aataattcaagggttggacctaatgccccagaagaaaaaaaacatttagatataaaggaa
aacagcacccatttttctcaacctaacagtacaaaagtccagagggtgttagtggcttca
tcagttgtagcaggggaatcccagaaacctgaactcaaggcttggcagggtatggtacca
tttgtttttgtgggaacaaaggacagcatcgctaatgccactgttcttttggattatcac
ctgaactatttaaaggaagtagaccagttgcgtttggagagattacaaattgatgagcag
ttgcgacagattggagctagttctagaccaccaccaaatcgtacagataaggaaaaaagc
tatgtgactgatgatggtcaaggaatgggtcgaggtagtagaccttacagaaataggggg
cacggcagacgcggtcctggatatacttcaggaactaattctgaagcatcaaatgcttct
gaaacagaatctgaccacagagacgaactcagtgattggtcattagctccaacagaggaa
gagagggagagcttcctgcgcagaggagacggacggcggcgtggagggggaggaagagga
caaggaggaagaggacgtggaggaggcttcaaaggaaacgacgatcactcccgaacagat
aatcgtccacgtaatccaagagaggctaaaggaagaacaacagatggatcccttcagatc
agagttgactgcaataatgaaaggagtgtccacactaaaacattacagaatacctccagt
gaaggtagtcggctgcgcacgggtaaagatcgtaaccagaagaaagagaagccagacagc
gtggatggtcagcaaccactcgtgaatggagtaccctaa

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