KEGG   Homo sapiens (human): 8087
Entry
8087              CDS       T01001                                 
Symbol
FXR1, CMYO9A, CMYO9B, CMYP9A, CMYP9B, FXR1P, MYOPMIL, MYORIBF
Name
(RefSeq) FMR1 autosomal homolog 1
  KO
K15516  fragile X mental retardation protein
Organism
hsa  Homo sapiens (human)
Disease
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    8087 (FXR1)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    eIF4F and regulatory proteins
     8087 (FXR1)
   Factors involved in mRNA localization
    Other mRNA localization factors
     8087 (FXR1)
   mRNA cycle factors
    Stress granule specific factors
     8087 (FXR1)
SSDB
Motif
Pfam: FXR_C1 KH_9 FXMRP1_C_core Tudor_FRX1 FXR_C3 KH_1 Agenet KH_2 KH-I_KHDC4-BBP DUF150_C Tudor_2
Other DBs
NCBI-GeneID: 8087
NCBI-ProteinID: NP_005078
OMIM: 600819
HGNC: 4023
Ensembl: ENSG00000114416
UniProt: P51114
Structure
Position
3:180912670..180982753
AA seq 621 aa
MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEIS
EGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKT
VKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKR
VNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSN
IQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKN
GKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKE
VEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELS
DWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLL
DNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADY
ISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGE
EKINTLKEENTQEAAVLNGVS
NT seq 1866 nt   +upstreamnt  +downstreamnt
atggcggagctgacggtggaggttcgcggctctaacggggctttctacaagggatttatc
aaagatgttcatgaagactcccttacagttgtttttgaaaataattggcaaccagaacgc
caggttccatttaatgaagttagattaccaccaccacctgatataaaaaaagaaattagt
gaaggagatgaagtagaggtatattcaagagcaaatgaccaagagccatgtgggtggtgg
ttggctaaagttcggatgatgaaaggagaattttatgtcattgaatatgctgcttgtgac
gctacttacaatgaaatagtcacatttgaacgacttcggcctgtcaatcaaaataaaact
gtcaaaaaaaataccttctttaaatgcacagtggatgttcctgaggatttgagagaggcg
tgtgctaatgaaaatgcacataaagattttaagaaagcagtaggagcatgcagaattttt
taccatccagaaacaacacagctaatgatactgtctgccagtgaagcaactgtgaagaga
gtaaacatcttaagtgacatgcatttgcgaagtattcgtacgaagttgatgcttatgtcc
agaaatgaagaggccactaagcatttagaatgcacaaaacaacttgcagcagcttttcat
gaggaatttgttgtgagagaagatttaatgggcctggcaataggaacacatggtagtaac
atccagcaagctaggaaggttcctggagttaccgccattgagctagatgaagatactgga
acattcagaatctacggagagagtgctgatgctgtaaaaaaggctagaggtttcttggaa
tttgtggaggattttattcaggttcctaggaatctcgttggaaaagtaattggaaaaaat
ggcaaagttattcaagaaatagtggacaaatctggtgtggttcgagtgagaattgaaggg
gacaatgaaaataaattacccagagaagacggtatggttccatttgtatttgttggcact
aaagaaagcattggaaatgtgcaggttcttctagagtatcatattgcctatctaaaggaa
gtagaacagctaagaatggaacgcctacagattgatgaacagctgcgacagattggttct
aggtcttatagcggaagaggcagaggtcgtcggggacctaattacacctccggttatggt
acaaattctgagctgtctaacccctctgaaacggaatctgagcgtaaagacgagctgagt
gattggtcattggcaggagaagatgatcgagacagccgacatcagcgtgacagcaggaga
cgcccaggaggaagaggcagaagtgtttcagggggtcgaggtcgtggtggaccacgtggt
ggcaaatcctccatcagttctgtgctcaaagatccagacagcaatccatacagcttactt
gataatacagaatcagatcagactgcagacactgatgccagcgaatctcatcacagtact
aaccgtcgtaggcggtctcgtagacgaaggactgatgaagatgctgttctgatggatgga
atgactgaatctgatacagcttcagttaatgaaaatgggctagtcacagttgcagattat
atttctagagctgagtctcagagcagacaaagaaacctcccaagggaaactttggctaaa
aacaagaaagaaatggcaaaagatgtgattgaagagcatggtccttcagaaaaggcaata
aacggcccaactagtgcttctggcgatgacatttctaagctacagcgtactccaggagaa
gaaaagattaataccttaaaagaagaaaacactcaagaagcagcagtcctgaatggtgtt
tcataa

  All links  
Disease (3)   
   OMIM (3)   
Gene (17)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (54)   
   RefSeq(nuc) (10)   
   GenBank (22)   
   EMBL (22)   
3D Structure (3)   
   PDB (3)   
Protein domain (11)   
   Pfam (11)   
All databases (100)   

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