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FXR1 FMR1 autosomal homolog 1 [ Homo sapiens (human) ]

Gene ID: 8087, updated on 10-Dec-2024

Summary

Official Symbol
FXR1provided by HGNC
Official Full Name
FMR1 autosomal homolog 1provided by HGNC
Primary source
HGNC:HGNC:4023
See related
Ensembl:ENSG00000114416 MIM:600819; AllianceGenome:HGNC:4023
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; CMYO9A; CMYO9B; CMYP9A; CMYP9B; MYOPMIL; MYORIBF
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]
Expression
Ubiquitous expression in testis (RPKM 27.2), ovary (RPKM 11.8) and 25 other tissues See more
Orthologs
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Genomic context

See FXR1 in Genome Data Viewer
Location:
3q26.33
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (180912670..180982753)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (183714436..183784535)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180630458..180700541)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928882 Neighboring gene uncharacterized LOC105374240 Neighboring gene uncharacterized LOC124909466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:180629449-180630104 Neighboring gene Sharpr-MPRA regulatory region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:180641841-180642341 Neighboring gene ribosomal protein L32 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14928 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 Neighboring gene VISTA enhancer hs192 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:180792991-180793622 Neighboring gene SOX2 overlapping transcript Neighboring gene RNA, U6 small nuclear 4, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
EBI GWAS Catalog

HIV-1 interactions

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

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Interaction of HIV-1 Gag with fragile X mental retardation, autosomal homolog 1 (FXR1) is identified in a series of six affinity purification/mass spectrometry screens PubMed
Tat tat Fragile X mental retardation, autosomal homolog 1 (FXR1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 27
Process Evidence Code Pubs
involved_in animal organ development  
involved_in apoptotic process PubMed 
involved_in dentate gyrus development  
involved_in mRNA destabilization PubMed 
involved_in mRNA transport  
involved_in membraneless organelle assembly PubMed 
involved_in membraneless organelle assembly PubMed 
involved_in muscle organ development PubMed 
involved_in negative regulation of inflammatory response PubMed 
involved_in negative regulation of long-term synaptic potentiation  
involved_in negative regulation of mRNA catabolic process PubMed 
involved_in negative regulation of translation  
involved_in negative regulation of tumor necrosis factor production  
involved_in nuclear pore complex assembly PubMed 
involved_in nuclear pore localization PubMed 
involved_in positive regulation of Rho protein signal transduction PubMed 
involved_in positive regulation of long-term neuronal synaptic plasticity  
involved_in positive regulation of miRNA-mediated gene silencing PubMed 
involved_in positive regulation of translation  
involved_in positive regulation of translation PubMed 
involved_in regulation of circadian sleep/wake cycle, sleep  
involved_in regulation of mRNA stability  
involved_in regulation of neurogenesis  
involved_in regulation of synaptic transmission, glutamatergic  
involved_in regulation of translation at presynapse, modulating synaptic transmission  
involved_in skeletal muscle organ development PubMed 
involved_in spermatid development PubMed 
Items 1 - 25 of 27
Component Evidence Code Pubs
located_in axon  
located_in costamere  
is_active_in cytoplasm PubMed 
located_in cytoplasm PubMed 
is_active_in cytoplasmic ribonucleoprotein granule PubMed 
is_active_in cytoplasmic stress granule  
is_active_in cytoplasmic stress granule PubMed 
located_in cytosol PubMed 
located_in dendritic spine  
located_in glutamatergic synapse  
is_active_in intracellular membraneless organelle PubMed 
is_active_in intracellular membraneless organelle PubMed 
located_in membrane PubMed 
is_active_in neuron projection  
is_active_in nuclear envelope PubMed 
located_in nucleolus PubMed 
is_active_in nucleus  
located_in perinuclear region of cytoplasm  
located_in presynapse  
located_in ribosome  

General protein information

Preferred Names
RNA-binding protein FXR1
Names
FMR1 autosomal protein-like protein 1

NCBI Reference Sequences (RefSeq)

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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_001013438.3NP_001013456.1  RNA-binding protein FXR1 isoform b

    See identical proteins and their annotated locations for 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/TrEMBL
    B4DM21
    Related
    ENSP00000388828.2, ENST00000445140.6
    Conserved Domains (7) summary
    pfam12235
    Location:354436
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:462535
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    cd20472
    Location:357
    Tudor_Agenet_FXR1_rpt1; first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd20475
    Location:61126
    Tudor_Agenet_FXR1_rpt2; second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22504
    Location:123199
    KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22507
    Location:218280
    KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22510
    Location:281358
    KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
  2. NM_001013439.3NP_001013457.1  RNA-binding protein FXR1 isoform c

    See identical proteins and their annotated locations for NP_001013457.1

    Status: REVIEWED

    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/TrEMBL
    B4DM78
    Related
    ENSP00000307633.7, ENST00000305586.11
    Conserved Domains (7) summary
    pfam12235
    Location:269351
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:377450
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:469535
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    cd22504
    Location:38114
    KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22507
    Location:133195
    KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22510
    Location:196273
    KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cl02573
    Location:141
    Tudor_SF; Tudor domain superfamily
  3. NM_001363882.1NP_001350811.1  RNA-binding protein FXR1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC008009
    Consensus CDS
    CCDS87169.1
    UniProtKB/TrEMBL
    B4DGH9, E7EU85
    Related
    ENSP00000420515.1, ENST00000468861.5
    Conserved Domains (6) summary
    pfam12235
    Location:269351
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:377450
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    cd22504
    Location:38114
    KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22507
    Location:133195
    KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22510
    Location:196273
    KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cl02573
    Location:141
    Tudor_SF; Tudor domain superfamily
  4. NM_005087.4NP_005078.2  RNA-binding protein FXR1 isoform a

    See identical proteins and their annotated locations for 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
    A8K9B8, P51114, Q7Z450, Q8N6R8
    UniProtKB/TrEMBL
    B4DXZ6
    Related
    ENSP00000350170.3, ENST00000357559.9
    Conserved Domains (8) summary
    pfam12235
    Location:354436
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:462535
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:554620
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    cd20472
    Location:357
    Tudor_Agenet_FXR1_rpt1; first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd20475
    Location:61126
    Tudor_Agenet_FXR1_rpt2; second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22504
    Location:123199
    KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22507
    Location:218280
    KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
    cd22510
    Location:281358
    KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    180912670..180982753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    183714436..183784535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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