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FXR1 fragile X mental retardation, autosomal homolog 1 [ Homo sapiens (human) ]

Gene ID: 8087, updated on 19-Jul-2014
Official Symbol
FXR1provided by HGNC
Official Full Name
fragile X mental retardation, autosomal homolog 1provided by HGNC
Primary source
HGNC:4023
See related
Ensembl:ENSG00000114416; HPRD:02892; MIM:600819; Vega:OTTHUMG00000158138
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FXR1P
Summary
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 subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
See FXR1 in Epigenomics, MapViewer
Location:
3q28
Exon count :
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (180912308..180982753)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180630096..180700541)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928882 Neighboring gene FLYWCH-type zinc finger 1 pseudogene 1 Neighboring gene ribosomal protein L32 pseudogene 10 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 19 Neighboring gene SOX2 overlapping transcript Neighboring gene FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of fragile X mental retardation, autosomal homolog 1 (FXR1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Protein Interaction Database

  • 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) ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-quadruplex RNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding TAS
Traceable Author Statement
more info
PubMed 
mRNA 3'-UTR binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
costamere IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus TAS
Traceable Author Statement
more info
PubMed 
polysome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
fragile X mental retardation syndrome-related protein 1
Names
fragile X mental retardation syndrome-related protein 1
hFXR1p

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_001013438.2NP_001013456.1  fragile X mental retardation syndrome-related protein 1 isoform b

    See proteins identical to NP_001013456.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC008009, AK225334, DC352767
    Consensus CDS
    CCDS46965.1
    UniProtKB/Swiss-Prot
    P51114
    Conserved Domains (3) summary
    cd00105
    Location:286352
    Blast Score: 129
    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:59115
    Blast Score: 133
    Agenet; Agenet domain
    pfam12235
    Location:361486
    Blast Score: 174
    FXR1P_C; Fragile X-related 1 protein C terminal
  2. NM_001013439.2NP_001013457.1  fragile X mental retardation syndrome-related protein 1 isoform c

    See proteins identical to NP_001013457.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC008009, AK292633, AU280585, DC352767
    Consensus CDS
    CCDS33894.1
    UniProtKB/Swiss-Prot
    P51114
    Conserved Domains (2) summary
    cd00105
    Location:201267
    Blast Score: 125
    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 ...
    pfam12235
    Location:276401
    Blast Score: 171
    FXR1P_C; Fragile X-related 1 protein C terminal
  3. NM_005087.3NP_005078.2  fragile X mental retardation syndrome-related protein 1 isoform a

    See proteins identical to NP_005078.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC008009, AK292633, DC352767
    Consensus CDS
    CCDS3238.1
    UniProtKB/Swiss-Prot
    P51114
    Related
    ENSP00000350170, OTTHUMP00000212640, ENST00000357559, OTTHUMT00000350265
    Conserved Domains (3) summary
    cd00105
    Location:286352
    Blast Score: 127
    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:59115
    Blast Score: 133
    Agenet; Agenet domain
    pfam12235
    Location:361486
    Blast Score: 171
    FXR1P_C; Fragile X-related 1 protein C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    180912308..180982753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247813.1XP_005247870.1  

    Conserved Domains (3) summary
    cd00105
    Location:412478
    Blast Score: 131
    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:185241
    Blast Score: 134
    Agenet; Agenet domain
    pfam12235
    Location:487641
    Blast Score: 210
    FXR1P_C; Fragile X-related 1 protein C terminal
  2. XM_005247814.1XP_005247871.1  

    Conserved Domains (3) summary
    cd00105
    Location:412478
    Blast Score: 131
    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:185241
    Blast Score: 135
    Agenet; Agenet domain
    pfam12235
    Location:487641
    Blast Score: 213
    FXR1P_C; Fragile X-related 1 protein C terminal
  3. XM_005247816.1XP_005247873.1  

    Conserved Domains (3) summary
    cd00105
    Location:412478
    Blast Score: 133
    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:185241
    Blast Score: 135
    Agenet; Agenet domain
    pfam12235
    Location:487641
    Blast Score: 215
    FXR1P_C; Fragile X-related 1 protein C terminal
  4. XM_005247815.1XP_005247872.1  

    Conserved Domains (3) summary
    cd00105
    Location:412478
    Blast Score: 131
    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:185241
    Blast Score: 135
    Agenet; Agenet domain
    pfam12235
    Location:487612
    Blast Score: 165
    FXR1P_C; Fragile X-related 1 protein C terminal
  5. XM_006713775.1XP_006713838.1  

    See proteins identical to XP_006713838.1

    Conserved Domains (2) summary
    cd00105
    Location:201267
    Blast Score: 126
    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 ...
    pfam12235
    Location:276430
    Blast Score: 212
    FXR1P_C; Fragile X-related 1 protein C terminal

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    178034321..178104537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    180593505..180663825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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