FUS FUS RNA binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: FUSprovided by HGNC
Official Full Name: FUS RNA binding proteinprovided by HGNC
Primary source: HGNC:HGNC:4010
See related: Ensembl:ENSG00000089280 MIM:137070; AllianceGenome:HGNC:4010
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: TLS; ALS6; ETM4; FUS1; POMP75; altFUS; HNRNPP2
Summary: This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
Expression: Ubiquitous expression in appendix (RPKM 32.4), lymph node (RPKM 29.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31180110..31194871)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31567541..31582292)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31191431..31206192)

Chromosome 16 - NC_000016.10 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?

FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
Title: FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.
Title: Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.
Post-translational modification sites are present in hydrophilic cavities of alpha-synuclein, tau, FUS, and TDP-43 fibrils: A molecular dynamics study.
Title: Post-translational modification sites are present in hydrophilic cavities of alpha-synuclein, tau, FUS, and TDP-43 fibrils: A molecular dynamics study.
FUS reads histone H3K36me3 to regulate alternative polyadenylation.
Title: FUS reads histone H3K36me3 to regulate alternative polyadenylation.
Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.
Title: Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.
A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain.
Title: A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain.
An aberrant fused in sarcoma liquid droplet of amyotrophic lateral sclerosis pathological variant, R495X, accelerates liquid-solid phase transition.
Title: An aberrant fused in sarcoma liquid droplet of amyotrophic lateral sclerosis pathological variant, R495X, accelerates liquid-solid phase transition.
RNA and the RNA-binding protein FUS act in concert to prevent TDP-43 spatial segregation.
Title: RNA and the RNA-binding protein FUS act in concert to prevent TDP-43 spatial segregation.
Cell-Type-Dependent Recruitment Dynamics of FUS Protein at Laser-Induced DNA Damage Sites.
Title: Cell-Type-Dependent Recruitment Dynamics of FUS Protein at Laser-Induced DNA Damage Sites.
FUS unveiled in mitochondrial DNA repair and targeted ligase-1 expression rescues repair-defects in FUS-linked motor neuron disease.
Title: FUS unveiled in mitochondrial DNA repair and targeted ligase-1 expression rescues repair-defects in FUS-linked motor neuron disease.

Submit: New GeneRIF Correction See all GeneRIFs (448)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 6 MedGen: C2931786 OMIM: 608030 GeneReviews: Amyotrophic Lateral Sclerosis Overview	Compare labs
Tremor, hereditary essential, 4 MedGen: C3539195 OMIM: 614782 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, FUS (fused in sarcoma; HNRNPP2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with FUS is increased by RRE	PubMed
Tat	tat	FUS RNA binding protein (FUS) 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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3137 (e-PCR)
- UniSTS:46611

Fus (e-PCR), detects polymorphism
- UniSTS:479000

D16S3354 (e-PCR)
- UniSTS:32028

PMC156606P1 (e-PCR)
- UniSTS:271408

D16S419 (e-PCR), detects polymorphism
- UniSTS:21834

D16S3002E (e-PCR)
- UniSTS:153953

D10S16 (e-PCR)
- UniSTS:155756

RH80219 (e-PCR)
- UniSTS:86382

RH80052 (e-PCR)
- UniSTS:90743

RH65013 (e-PCR)
- UniSTS:87681

RH91447 (e-PCR)
- UniSTS:86428

RH79829 (e-PCR)
- UniSTS:89520

RH69682 (e-PCR)
- UniSTS:91840

D16S415 (e-PCR)
- UniSTS:30459

D16S2534E (e-PCR)
- UniSTS:473343

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	EXP Inferred from Experiment more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin 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	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid fibril formation	EXP Inferred from Experiment more info	PubMed
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mRNA stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in non-membrane-bounded organelle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in intracellular non-membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: RNA-binding protein FUS

Names: 75 kDa DNA-pairing protein; fus-like protein; fused in sarcoma; fusion gene in myxoid liposarcoma; heterogeneous nuclear ribonucleoprotein P2; oncogene FUS; oncogene TLS; translocated in liposarcoma protein

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_012889.2 RefSeqGene

Range

4979..19740

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_655

mRNA and Protein(s)

NM_001170634.1 → NP_001164105.1 RNA-binding protein FUS isoform 2

See identical proteins and their annotated locations for NP_001164105.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AC009088, AI333366, DC361263

Consensus CDS

CCDS58454.1

UniProtKB/TrEMBL

H3BPE7

Related

ENSP00000369594.3, ENST00000380244.8

Conserved Domains (3) summary

COG0724
Location:263 → 373

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12535
Location:282 → 367

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:421 → 448

zf-RanBP; Zn-finger in Ran binding protein and others
NM_001170937.1 → NP_001164408.1 RNA-binding protein FUS isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.

Source sequence(s)

AC009088, AI333366, DA541747, DC361263, U36561

UniProtKB/TrEMBL

H3BPE7

Conserved Domains (3) summary

COG0724
Location:260 → 370

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12535
Location:279 → 364

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:418 → 445

zf-RanBP; Zn-finger in Ran binding protein and others
NM_004960.4 → NP_004951.1 RNA-binding protein FUS isoform 1

See identical proteins and their annotated locations for NP_004951.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC009088, BC002459

Consensus CDS

CCDS10707.1

UniProtKB/Swiss-Prot

P35637

UniProtKB/TrEMBL

H3BPE7, Q6IBQ5

Related

ENSP00000254108.8, ENST00000254108.12

Conserved Domains (2) summary

cd12535
Location:283 → 368

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:422 → 449

zf-RanBP; Zn-finger in Ran binding protein and others

RNA

NR_028388.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) omits an exon in the coding sequence, compared to variant 1, resulting in a frameshift and premature stop codon. The transcript is predicted to be subject to nonsense-mediated decay and thus the truncated protein is not annotated.

Source sequence(s)

AC009088, AI333366, AW408771, DC361263

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31180110..31194871

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545781.2 → XP_011544083.1 RNA-binding protein FUS isoform X1

UniProtKB/TrEMBL

A0AAQ5BIG2, H3BPE7

Related

ENSP00000520462.1, ENST00000715542.1

Conserved Domains (3) summary

COG0724
Location:262 → 372

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12535
Location:281 → 366

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:420 → 447

zf-RanBP; Zn-finger in Ran binding protein and others
XM_024450221.2 → XP_024305989.1 RNA-binding protein FUS isoform X2

UniProtKB/TrEMBL

H3BPE7

Conserved Domains (2) summary

cd12535
Location:280 → 365

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:419 → 446

zf-RanBP; Zn-finger in Ran binding protein and others
XM_011545782.3 → XP_011544084.1 RNA-binding protein FUS isoform X3

See identical proteins and their annotated locations for XP_011544084.1

UniProtKB/TrEMBL

Q59H57

Conserved Domains (3) summary

COG0724
Location:63 → 169

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12535
Location:78 → 163

RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins

pfam00641
Location:217 → 244

zf-RanBP; Zn-finger in Ran binding protein and others

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

31567541..31582292

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379990.1 → XP_054235965.1 RNA-binding protein FUS isoform X1

UniProtKB/TrEMBL

A0AAQ5BIG2
XM_054379991.1 → XP_054235966.1 RNA-binding protein FUS isoform X2
XM_054379992.1 → XP_054235967.1 RNA-binding protein FUS isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001010850.1: Suppressed sequence

Description

NM_001010850.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.