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Fmr1 fragile X mental retardation syndrome 1 [ Mus musculus (house mouse) ]

Gene ID: 14265, updated on 19-Sep-2014
Official Symbol
Fmr1provided by MGI
Official Full Name
fragile X mental retardation syndrome 1provided by MGI
Primary source
MGI:MGI:95564
See related
Ensembl:ENSMUSG00000000838; Vega:OTTMUSG00000017748
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FMRP; Fmr-1
See Fmr1 in Epigenomics, MapViewer
Location:
X A7.1; X 34.83 cM
Exon count:
17
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) X NC_000086.7 (68678546..68717963)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene S-adenosylhomocysteine hydrolase pseudogene Neighboring gene predicted gene 10474 Neighboring gene fragile X mental retardation 1 neighbor Neighboring gene serine/threonine/tyrosine interaction protein pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Serotonin and anxiety, organism-specific biosystem (from WikiPathways)
    Serotonin and anxiety, organism-specific biosystemBenekareddy et al observed the phenomenon that rats who were maternally separated show increased levels of induced anxiety-related behaviour during adulthood. Type 2 serotonin receptors have been imp...
  • mRNA processing, organism-specific biosystem (from WikiPathways)
    mRNA processing, organism-specific biosystemAdapted from Reactome, see: [http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=REACT_1675.1 REACT 1675.1] This process describes the conversion of precursor messenger RNA into mature messenge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
RNA binding ISO
Inferred from Sequence Orthology
more info
 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
poly(A) RNA binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mRNA transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body ISO
Inferred from Sequence Orthology
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic ribonucleoprotein granule ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
 
dendrite ISO
Inferred from Sequence Orthology
more info
 
dendritic shaft ISO
Inferred from Sequence Orthology
more info
 
dendritic spine ISO
Inferred from Sequence Orthology
more info
 
mRNA cap binding complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with microtubule ISO
Inferred from Sequence Orthology
more info
PubMed 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
neuronal ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
neuronal ribonucleoprotein granule ISO
Inferred from Sequence Orthology
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with polysome ISO
Inferred from Sequence Orthology
more info
 
synapse ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
fragile X mental retardation protein 1 homolog
Names
fragile X mental retardation protein 1 homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001290424.1NP_001277353.1  fragile X mental retardation protein 1 homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF461114, AK053829, BC079671
    Consensus CDS
    CCDS72385.1
    UniProtKB/TrEMBL
    E9QAT0
    UniProtKB/TrEMBL
    Q547R0
    UniProtKB/TrEMBL
    Q6AXB7
    UniProtKB/TrEMBL
    Q8BPK8
    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:426551
    FXR1P_C; Fragile X-related 1 protein C terminal
  2. NM_008031.3NP_032057.2  fragile X mental retardation protein 1 homolog isoform 1

    See proteins identical to NP_032057.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK053829, BC079671
    Consensus CDS
    CCDS30171.1
    UniProtKB/TrEMBL
    Q6AXB7
    UniProtKB/TrEMBL
    Q8BPK8
    Related
    ENSMUSP00000085906, OTTMUSP00000019318, ENSMUST00000088546, OTTMUST00000042964
    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:426508
    FXR1P_C; Fragile X-related 1 protein C terminal

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000086.7 

    Range
    68678546..68717963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527810.1XP_006527873.1  

    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:426564
    FXR1P_C; Fragile X-related 1 protein C terminal
  2. XM_006527812.1XP_006527875.1  

    Related
    ENSMUSP00000110301, OTTMUSP00000019321, ENSMUST00000114653, OTTMUST00000042970
    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:426551
    FXR1P_C; Fragile X-related 1 protein C terminal
  3. XM_006527811.1XP_006527874.1  

    UniProtKB/TrEMBL
    E9QNF5
    Related
    ENSMUSP00000110305, OTTMUSP00000019320, ENSMUST00000114657, OTTMUST00000042969
    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:405487
    FXR1P_C; Fragile X-related 1 protein C terminal
  4. XM_006527813.1XP_006527876.1  

    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:405543
    FXR1P_C; Fragile X-related 1 protein C terminal
  5. XM_006527814.1XP_006527877.1  

    Related
    ENSMUSP00000110302, OTTMUSP00000019322, ENSMUST00000114654, OTTMUST00000042971
    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:405530
    FXR1P_C; Fragile X-related 1 protein C terminal
  6. XM_006527815.1XP_006527878.1  

    Conserved Domains (3) summary
    cd00105
    Location:286325
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    pfam05641
    Location:59117
    Agenet; Agenet domain
    pfam12235
    Location:426480
    FXR1P_C; Fragile X-related 1 protein C terminal

Alternate Mm_Celera

Genomic

  1. NW_001032953.1 

    Range
    664..25705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)