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

Gene ID: 8087, updated on 26-Oct-2020

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
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; 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

Genomic context

See FXR1 in Genome Data Viewer
Location:
3q26.33
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (180912670..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 uncharacterized LOC105374240 Neighboring gene ribosomal protein L32 pseudogene 10 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 Neighboring gene VISTA enhancer hs192 Neighboring gene SOX2 overlapping transcript

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

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
GeneReviews: Not available
MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS
MedGen: CN263394 OMIM: 618823 GeneReviews: Not available
not available
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
MedGen: CN263393 OMIM: 618822 GeneReviews: Not available
not available

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA strand annealing activity IDA
Inferred from Direct Assay
more info
PubMed 
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
translation regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gene silencing by miRNA IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mRNA stability IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
costamere IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
dendritic filopodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine neck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus TAS
Traceable Author Statement
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
polysome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
fragile X mental retardation syndrome-related protein 1
Names
fragile X mental retardation, autosomal homolog 1

NCBI Reference Sequences (RefSeq)

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  fragile X mental retardation syndrome-related protein 1 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/Swiss-Prot
    P51114
    Related
    ENSP00000388828.2, ENST00000445140.6
    Conserved Domains (7) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    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
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain
  2. NM_001013439.3NP_001013457.1  fragile X mental retardation syndrome-related protein 1 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/Swiss-Prot
    P51114
    Related
    ENSP00000307633.7, ENST00000305586.11
    Conserved Domains (6) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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: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
    pfam17904
    Location:38122
    KH_9; FMRP KH0 domain
  3. NM_001363882.1NP_001350811.1  fragile X mental retardation syndrome-related protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC008009
    Consensus CDS
    CCDS87169.1
    Related
    ENSP00000420515.1, ENST00000468861.5
    Conserved Domains (5) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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: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
    pfam17904
    Location:38122
    KH_9; FMRP KH0 domain
  4. NM_005087.4NP_005078.2  fragile X mental retardation syndrome-related protein 1 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
    P51114
    Related
    ENSP00000350170.3, ENST00000357559.9
    Conserved Domains (8) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    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
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005247813.3XP_005247870.2  fragile X mental retardation syndrome-related protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247870.2

    UniProtKB/TrEMBL
    A0A0F7KYT8
    Conserved Domains (8) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    pfam12235
    Location:354465
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:491563
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:610676
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain
  2. XM_005247814.3XP_005247871.2  fragile X mental retardation syndrome-related protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005247871.2

    Conserved Domains (8) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    pfam12235
    Location:354465
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:491564
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:583649
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain
  3. XM_005247816.3XP_005247873.2  fragile X mental retardation syndrome-related protein 1 isoform X4

    See identical proteins and their annotated locations for XP_005247873.2

    Related
    ENSP00000420643.1, ENST00000491062.5
    Conserved Domains (7) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    pfam12235
    Location:354465
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:491564
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain
  4. XM_005247815.3XP_005247872.2  fragile X mental retardation syndrome-related protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005247872.2

    UniProtKB/TrEMBL
    A0A0F7L1S3
    Related
    ENSP00000418097.1, ENST00000480918.5
    Conserved Domains (8) summary
    smart00322
    Location:221280
    KH; K homology RNA-binding domain
    cd00105
    Location:286352
    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:62117
    Agenet; Agenet domain
    pfam12235
    Location:354436
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:462534
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:581647
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    pfam17904
    Location:123207
    KH_9; FMRP KH0 domain
    pfam18336
    Location:452
    Tudor_FRX1; Fragile X mental retardation Tudor domain
  5. XM_006713775.3XP_006713838.1  fragile X mental retardation syndrome-related protein 1 isoform X5

    See identical proteins and their annotated locations for XP_006713838.1

    Conserved Domains (5) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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:269380
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:406478
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:525591
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
  6. XM_017007299.1XP_016862788.1  fragile X mental retardation syndrome-related protein 1 isoform X7

    Conserved Domains (5) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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:269351
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:377449
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:496562
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
  7. XM_017007300.1XP_016862789.1  fragile X mental retardation syndrome-related protein 1 isoform X8

    Conserved Domains (4) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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:269380
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:406479
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
  8. XM_017007298.2XP_016862787.1  fragile X mental retardation syndrome-related protein 1 isoform X6

    Conserved Domains (6) summary
    smart00322
    Location:136195
    KH; K homology RNA-binding domain
    cd00105
    Location:201267
    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:269380
    FXMRP1_C_core; Fragile X-related 1 protein core C terminal
    pfam16096
    Location:406479
    FXR_C1; Fragile X-related 1 protein C-terminal region 2
    pfam16097
    Location:498564
    FXR_C3; Fragile X-related 1 protein C-terminal region 3
    pfam17904
    Location:38122
    KH_9; FMRP KH0 domain

RNA

  1. XR_002959596.1 RNA Sequence

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