KEGG   Homo sapiens (human): 2332
Entry
2332              CDS       T01001                                 
Symbol
FMR1, FMRP, FRAXA, POF, POF1
Name
(RefSeq) fragile X messenger ribonucleoprotein 1
  KO
K15516  fragile X mental retardation protein
Organism
hsa  Homo sapiens (human)
Disease
H00465  Fragile X syndrome
H00627  Premature ovarian failure
H01731  Fragile X tremor/ataxia syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    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)
SSDB
Motif
Pfam: FXMRP1_C_core FXMR_C2 KH_9 Tudor_FRX1 KH_1 Agenet
Other DBs
NCBI-GeneID: 2332
NCBI-ProteinID: NP_002015
OMIM: 309550
HGNC: 3775
Ensembl: ENSG00000102081
UniProt: Q06787
Structure
Position
X:147911919..147951125
AA seq 632 aa
MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDIN
ESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKP
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKR
AHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFHEQFIVREDLMGLAIGTHGAN
IQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLEFAEDVIQVPRNLVGKVIGKN
GKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAPEEKKHLDIKE
NSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRG
HGRRGPGYTSGTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRG
QGGRGRGGGFKGNDDHSRTDNRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSS
EGSRLRTGKDRNQKKEKPDSVDGQQPLVNGVP
NT seq 1899 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (109)   
   RefSeq(nuc) (7)   
   GenBank (51)   
   EMBL (51)   
3D Structure (12)   
   PDB (12)   
Protein domain (6)   
   Pfam (6)   
All databases (153)   

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