• Gene id: 8087

Gene Summary

• Gene Symbol: FXR1   Gene   UCSC   Ensembl
• Aliases: FXR1P, MYOPMIL, MYORIBF
• Gene name: FMR1 autosomal homolog 1
• Alternate names: fragile X mental retardation syndrome-related protein 1, fragile X mental retardation, autosomal homolog 1,
• Gene location: 3q26.33 (180912669: 180982752)     Exons: 19     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal
• OMIM: 600819

Protein Summary

• Protein general information: P51114  
  • Name: Fragile X mental retardation syndrome related protein 1 (hFXR1p)
  • Length: 621  
  • Mass: 69721
  • Tissue specificity: Expressed in all tissues examined including heart, brain, kidney and testis. {ECO
• Sequence:

  MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQE
  PCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDF
  KKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVV
  REDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKN
  GKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQL
  RQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVS
  GGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESD
  TASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGE
  EKINTLKEENTQEAAVLNGVS

• Structural information:
  • Protein Domains: (4..5-)
    (/note="Agenet-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00973-)
    (63..11-)
    (/note="Agenet-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00973-)
    (222..25-)
    (/note="KH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR008395  IPR040148  IPR040472  IPR022034  IPR032172   IPR032177  IPR004087  IPR004088  IPR036612  IPR041560  
  • Prosite: PS51641 PS50084
  • PDB: 2CPQ 3KUF 3O8V
  • PDBsum: 2CPQ 3KUF 3O8V
  • DIP: 40789
  • STRING: ENSP00000350170
• Other Databases: GeneCards:  FXR1  Malacards:  FXR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051489	regulation of filopodium assembly	IBA	biological process
GO:0045727	positive regulation of translation	IBA	biological process
GO:0043488	regulation of mRNA stability	IBA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0036464	cytoplasmic ribonucleoprotein granule	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0017148	negative regulation of translation	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IBA	biological process
GO:1902737	dendritic filopodium	IBA	cellular component
GO:0098793	presynapse	IBA	cellular component
GO:0045182	translation regulator activity	IBA	molecular function
GO:0044326	dendritic spine neck	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0035770	ribonucleoprotein granule	IBA	cellular component
GO:0030426	growth cone	IBA	cellular component
GO:0014069	postsynaptic density	IBA	cellular component
GO:0005844	polysome	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003730	mRNA 3'-UTR binding	IBA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IBA	biological process
GO:0033592	RNA strand annealing activity	IDA	molecular function
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005844	polysome	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0005730	nucleolus	TAS	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043034	costamere	IEA	cellular component
GO:0035770	ribonucleoprotein granule	IEA	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0007517	muscle organ development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray