FMR1 fragile X messenger ribonucleoprotein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FMR1provided by HGNC
Official Full Name: fragile X messenger ribonucleoprotein 1provided by HGNC
Primary source: HGNC:HGNC:3775
See related: Ensembl:ENSG00000102081 MIM:309550; AllianceGenome:HGNC:3775
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: POF; FMRP; POF1; FRAXA
Summary: The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in thyroid (RPKM 16.8), brain (RPKM 15.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq27.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (147911919..147951125)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (146176547..146215797)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (146993437..147032645)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation.
Title: Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation.
Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.
Title: Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.
FMRP cooperates with miRISC components to repress translation and regulate neurite morphogenesis in Drosophila.
Title: FMRP cooperates with miRISC components to repress translation and regulate neurite morphogenesis in Drosophila.
Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome.
Title: Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome.
Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.
Title: Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.
Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation.
Title: Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation.
Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.
Title: Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.
[High expression of fragile X mental retardation protein inhibits ferroptosis of colorectal tumor cells by activating the RAS/MAPK signaling pathway].
Title: [High expression of fragile X mental retardation protein inhibits ferroptosis of colorectal tumor cells by activating the RAS/MAPK signaling pathway].
Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.
Title: Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.
Title: FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.

Submit: New GeneRIF Correction See all GeneRIFs (664)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fragile X syndrome MedGen: C0016667 OMIM: 300624 GeneReviews: FMR1 Disorders	not available
Fragile X-associated tremor/ataxia syndrome MedGen: C1839780 OMIM: 300623 GeneReviews: Hereditary Ataxia Overview, FMR1 Disorders	not available
Premature ovarian failure 1 MedGen: C4552079 OMIM: 311360 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-16) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16) ClinGen Genome Curation PagePubMed

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag interacts with endogenous fragile X mental retardation protein (FMRP) in an RNase-resistant manner and the NC domain in Gag plays an important role in this interaction	PubMed
capsid	gag	FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT	PubMed
nucleocapsid	gag	FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT	PubMed
	gag	HIV-1 Gag interacts with endogenous fragile X mental retardation protein (FMRP) in an RNase-resistant manner and the NC domain in Gag plays an important role in this interaction	PubMed
reverse transcriptase	gag-pol	FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:373842 (e-PCR)
- UniSTS:156931

GDB:374079 (e-PCR)
- UniSTS:156939

GDB:181087 (e-PCR)
- UniSTS:155159

FMR1 (e-PCR)
- UniSTS:506656

G64324 (e-PCR)
- UniSTS:163636

G64325 (e-PCR)
- UniSTS:163637

STS-X69962 (e-PCR)
- UniSTS:12905

GDB:596304 (e-PCR)
- UniSTS:158090

GDB:190037 (e-PCR)
- UniSTS:99214

WI-18960 (e-PCR)
- UniSTS:28815

G49466 (e-PCR)
- UniSTS:109205

GDB:370773 (e-PCR)
- UniSTS:156827

GDB:187391 (e-PCR)
- UniSTS:155549

SHGC-106578 (e-PCR)
- UniSTS:185032

L23971 (e-PCR)
- UniSTS:124883

GDB:342153 (e-PCR)
- UniSTS:156636

GDB:342159 (e-PCR)
- UniSTS:156637

GDB:631926 (e-PCR)
- UniSTS:158445

G64326 (e-PCR)
- UniSTS:164087

FMR1_634 (e-PCR)
- UniSTS:277247

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-quadruplex RNA binding	EXP Inferred from Experiment more info	PubMed
enables G-quadruplex RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables N6-methyladenosine-containing RNA reader activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA stem-loop binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA strand annealing activity	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables dynein complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 5'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular condensate scaffold activity	EXP Inferred from Experiment more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	IPI Inferred from Physical Interaction more info	PubMed
enables poly(G) binding	IDA Inferred from Direct Assay more info	PubMed
enables poly(U) RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosome binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables siRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables translation initiation factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation repressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in membraneless organelle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation by host of viral RNA genome replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytoplasmic translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of long-term synaptic depression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of miRNA-mediated gene silencing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of synaptic vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translational initiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendritic spine development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intracellular transport of viral material	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of long-term neuronal synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of miRNA-mediated gene silencing	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of dendritic spine development	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mRNA stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mRNA stability	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuronal action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of translation at presynapse, modulating synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulatory ncRNA-mediated gene silencing	IEA Inferred from Electronic Annotation more info
involved_in stress granule assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Cajal body	IEA Inferred from Electronic Annotation more info
part_of SMN complex	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in chromocenter	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in filopodium tip	ISS Inferred from Sequence or Structural Similarity more info
located_in glial cell projection	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone filopodium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in intracellular membraneless organelle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal ribonucleoprotein granule	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: fragile X messenger ribonucleoprotein 1

Names: FMRP translational regulator 1; synaptic functional regulator FMR1

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.

Genomic

NG_007529.2 RefSeqGene

Range

4961..44137

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_762

mRNA and Protein(s)

NM_001185075.2 → NP_001172004.1 fragile X messenger ribonucleoprotein 1 isoform ISO6

Status: REVIEWED

Description

Transcript Variant: This variant (ISO6) lacks an alternate segment and uses a different splice site in the 3' coding region which shifts the reading frame, compared to variant ISO1. The resulting protein (isoform ISO6) has a shorter and distinct C-terminus when it is compared to isoform ISO1.

Source sequence(s)

BC086957, BQ213316, BX498094, CK825936, L29074

Consensus CDS

CCDS55518.1

UniProtKB/Swiss-Prot

Q06787

Related

ENSP00000359502.3, ENST00000370471.7

Conserved Domains (3) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 325

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain
NM_001185076.2 → NP_001172005.1 fragile X messenger ribonucleoprotein 1 isoform ISO7

See identical proteins and their annotated locations for NP_001172005.1

Status: REVIEWED

Description

Transcript Variant: This variant (ISO7) lacks an alternate segment, compared to variant ISO1. The resulting protein (isoform ISO7) is shorter when it is compared to isoform ISO1.

Source sequence(s)

BC086957, BQ213316, BQ417290, CN315330, CX871385, L29074

Consensus CDS

CCDS55519.1

UniProtKB/TrEMBL

A0A8I5KS01

Related

ENSP00000218200.8, ENST00000218200.12

Conserved Domains (5) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 325

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain

pfam12235
Location:399 → 551

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:529 → 611

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
NM_001185081.2 → NP_001172010.1 fragile X messenger ribonucleoprotein 1 isoform ISO12

Status: REVIEWED

Description

Transcript Variant: This variant (ISO12) lacks two alternate segments and uses a different splice site which changes the reading frame, compared to variant ISO1. The resulting protein (isoform ISO12) has a shorter and distinct C-terminus when it is compared to isoform ISO1.

Source sequence(s)

BC086957, BQ213316, BQ287827, CK825936, L29074

UniProtKB/Swiss-Prot

Q06787

Conserved Domains (3) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 325

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain
NM_001185082.2 → NP_001172011.1 fragile X messenger ribonucleoprotein 1 isoform ISO9

See identical proteins and their annotated locations for NP_001172011.1

Status: REVIEWED

Description

Transcript Variant: This variant (ISO9) lacks an alternate segment and uses a different splice site in the 3' coding region, compared to variant ISO1. The resulting protein (isoform ISO9) is shorter when it is compared to isoform ISO1.

Source sequence(s)

BC086957, L29074

Consensus CDS

CCDS76039.1

UniProtKB/TrEMBL

A0A8I5KS01

Related

ENSP00000413764.3, ENST00000440235.6

Conserved Domains (5) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 325

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain

pfam12235
Location:399 → 526

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:504 → 586

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
NM_002024.6 → NP_002015.1 fragile X messenger ribonucleoprotein 1 isoform ISO1

See identical proteins and their annotated locations for NP_002015.1

Status: REVIEWED

Description

Transcript Variant: This variant (ISO1) represents the longest transcript and it encodes the longest protein (isoform ISO1).

Source sequence(s)

KJ534837, L29074

Consensus CDS

CCDS14682.1

UniProtKB/Swiss-Prot

A6NNH4, D3DWT0, D3DWT1, D3DWT2, G8JL90, Q06787, Q16578, Q5PQZ6, Q99054

UniProtKB/TrEMBL

X5DQX7

Related

ENSP00000359506.5, ENST00000370475.9

Conserved Domains (5) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 325

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain

pfam12235
Location:420 → 572

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:550 → 632

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2

RNA

NR_033699.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (ISO4) lacks an alternate segment, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC086957, BQ213316, BX498094, CK825936, L29074
NR_033700.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (ISO10) lacks two alternate segments, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC086957, BQ213316, CK825936, L29074

Related

ENST00000693452.1