The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for GRSF1 Gene

Aliases for GRSF1 Gene

  • G-Rich RNA Sequence Binding Factor 1 2 3 5
  • G-Rich Sequence Factor 1 3 4
  • GRSF-1 4

External Ids for GRSF1 Gene

Previous GeneCards Identifiers for GRSF1 Gene

  • GC04M071642
  • GC04M071925
  • GC04M072085
  • GC04M072151
  • GC04M072050
  • GC04M071681
  • GC04M067485

Summaries for GRSF1 Gene

Entrez Gene Summary for GRSF1 Gene

  • The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRSF1 Gene

GRSF1 (G-Rich RNA Sequence Binding Factor 1) is a Protein Coding gene. Diseases associated with GRSF1 include Spastic Paraplegia 7, Autosomal Recessive. Among its related pathways are Influenza Viral RNA Transcription and Replication and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPH1.

UniProtKB/Swiss-Prot Summary for GRSF1 Gene

  • Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT-ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381).

Additional gene information for GRSF1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRSF1 Gene

Genomics for GRSF1 Gene

GeneHancer (GH) Regulatory Elements for GRSF1 Gene

Promoters and enhancers for GRSF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J070844 Enhancer 0.7 Ensembl ENCODE 500.7 -1.1 -1127 0.4 ZNF384 SMARCA5 NR2F1 TBX21 NR2F6 PAX5 IKZF1 RUNX3 SKIL GRSF1 ENSG00000283313
GH04J070841 Enhancer 0.7 Ensembl 500.7 +0.9 874 2 RELA BCL11A SRF NR2C1 BATF ELF1 ZNF335 IRF4 NR2F1 EBF1 GRSF1 lnc-RUFY3-1
GH04J070901 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.9 -59.6 -59627 3.4 CTCF NRF1 POLR2G PHF8 PHB2 ZFX ZNF639 ZIC2 POLR2A ZBTB11 MOB1B lnc-GRSF1-2 DCK GRSF1 UTP3 JCHAIN piR-59760
GH04J070923 Enhancer 0.9 Ensembl ENCODE 11.7 -82.2 -82227 5.8 POLR2A ZNF341 ZBTB17 SPI1 ZFHX2 BATF ELF1 POU2F2 IKZF1 ZNF189 MOB1B DCK GRSF1 UTP3 JCHAIN piR-59760 MF281472
GH04J070969 Enhancer 0.8 ENCODE dbSUPER 11.5 -127.6 -127646 2.2 TBX3 FOXA2 FOXP1 THRB HMG20A HNF4A SOX5 BHLHE40 RXRA SP1 DCK RUFY3 GRSF1 UTP3 JCHAIN RF00017-4327 MOB1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRSF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRSF1

Top Transcription factor binding sites by QIAGEN in the GRSF1 gene promoter:
  • AML1a
  • Arnt
  • CP2
  • Pax-4a
  • XBP-1

Genomic Locations for GRSF1 Gene

Genomic Locations for GRSF1 Gene
chr4:70,815,782-70,843,274
(GRCh38/hg38)
Size:
27,493 bases
Orientation:
Minus strand
chr4:71,681,499-71,705,662
(GRCh37/hg19)
Size:
24,164 bases
Orientation:
Minus strand

Genomic View for GRSF1 Gene

Genes around GRSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRSF1 Gene

Proteins for GRSF1 Gene

  • Protein details for GRSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12849-GRSF1_HUMAN
    Recommended name:
    G-rich sequence factor 1
    Protein Accession:
    Q12849
    Secondary Accessions:
    • B3KPW0
    • Q4W5S5
    • Q6ZST3
    • Q8IWD6
    • Q8NBD2

    Protein attributes for GRSF1 Gene

    Size:
    480 amino acids
    Molecular mass:
    53126 Da
    Quaternary structure:
    • Monomer. Found in a complex with DDX28, DHX30, FASTKD2 and FASTKD5 (PubMed:25683715). Interacts with the mitochondrial RNase P complex subunit TRMT10C/MRPP1 (PubMed:23473034). Interacts with the 2 components of the mitochondrial degradosome complex, PNPT1 and SUPV3L1, in an RNA-dependent manner (PubMed:29967381).
    Miscellaneous:
    • Depletion of GRSF1 by siRNA results in a combined OXPHOS assembly defect, with the prominent loss of complexes I, III, IV, and V. It also leads to altered steady-state levels of mitochondrial rRNAs and mRNAs.
    SequenceCaution:
    • Sequence=AAC95399.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=AAH40485.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAY40942.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC03513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAC86863.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=EAX05634.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GRSF1 Gene

    Alternative splice isoforms for GRSF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRSF1 Gene

Post-translational modifications for GRSF1 Gene

  • Ubiquitination at Lys242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRSF1 Gene

Domains & Families for GRSF1 Gene

Gene Families for GRSF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GRSF1 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRSF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ30937 fis, clone FEBRA2007247, highly similar to G-rich sequence factor 1 (B3KP14_HUMAN)
  • cDNA FLJ39736 fis, clone SMINT2016313, highly similar to G-rich sequence factor 1 (B3KPW0_HUMAN)
  • G-rich sequence factor 1 (GRSF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12849

UniProtKB/Swiss-Prot:

GRSF1_HUMAN :
  • The RRM domains mediate RNA-binding.
Domain:
  • The RRM domains mediate RNA-binding.
genes like me logo Genes that share domains with GRSF1: view

Function for GRSF1 Gene

Molecular function for GRSF1 Gene

UniProtKB/Swiss-Prot Function:
Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT-ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381).
GENATLAS Biochemistry:
G-rich RNA sequence binding factor 1

Phenotypes From GWAS Catalog for GRSF1 Gene

Gene Ontology (GO) - Molecular Function for GRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IDA,IEA 29967381
GO:0003729 mRNA binding TAS 8036161
GO:0005515 protein binding IPI 24338975
genes like me logo Genes that share ontologies with GRSF1: view
genes like me logo Genes that share phenotypes with GRSF1: view

Animal Models for GRSF1 Gene

MGI Knock Outs for GRSF1:
  • Grsf1 Grsf1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for GRSF1 Gene

miRTarBase miRNAs that target GRSF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRSF1 Gene

Localization for GRSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRSF1 Gene

[Isoform 1]: Mitochondrion matrix. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269 PubMed:23473033, ECO:0000269 PubMed:23473034, ECO:0000269 PubMed:25683715}.
[Isoform 2]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRSF1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 8036161
GO:0005739 mitochondrion IDA 29967381
GO:0035770 ribonucleoprotein granule IDA 25683715
GO:0042645 mitochondrial nucleoid IDA,IEA 25683715
genes like me logo Genes that share ontologies with GRSF1: view

Pathways & Interactions for GRSF1 Gene

genes like me logo Genes that share pathways with GRSF1: view

Gene Ontology (GO) - Biological Process for GRSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000962 positive regulation of mitochondrial RNA catabolic process IDA 29967381
GO:0006378 mRNA polyadenylation TAS 8036161
GO:0006396 RNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with GRSF1: view

No data available for SIGNOR curated interactions for GRSF1 Gene

Drugs & Compounds for GRSF1 Gene

No Compound Related Data Available

Transcripts for GRSF1 Gene

mRNA/cDNA for GRSF1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRSF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8:
SP9:

Relevant External Links for GRSF1 Gene

GeneLoc Exon Structure for
GRSF1

Expression for GRSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GRSF1 Gene

This gene is overexpressed in Bone marrow stromal cell (7.9) and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRSF1 Gene



Protein tissue co-expression partners for GRSF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRSF1

SOURCE GeneReport for Unigene cluster for GRSF1 Gene:

Hs.309763

Evidence on tissue expression from TISSUES for GRSF1 Gene

  • Nervous system(4.5)
  • Lung(3.1)
  • Eye(2.8)
  • Pancreas(2.5)
  • Kidney(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with GRSF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRSF1 Gene

Orthologs for GRSF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRSF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRSF1 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GRSF1 31 30
  • 92.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GRSF1 31 30
  • 90.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Grsf1 17 31 30
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Grsf1 30
  • 86.08 (n)
oppossum
(Monodelphis domestica)
Mammalia GRSF1 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRSF1 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRSF1 31 30
  • 62.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRSF1 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grsf1 30
  • 62.4 (n)
zebrafish
(Danio rerio)
Actinopterygii grsf1 31 30
  • 56.67 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG6946 32
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToMany
Species where no ortholog for GRSF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GRSF1 Gene

ENSEMBL:
Gene Tree for GRSF1 (if available)
TreeFam:
Gene Tree for GRSF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRSF1: view image

Paralogs for GRSF1 Gene

Paralogs for GRSF1 Gene

(6) SIMAP similar genes for GRSF1 Gene using alignment to 5 proteins:

  • GRSF1_HUMAN
  • F5H5I6_HUMAN
  • H0Y8R1_HUMAN
  • H0YAK1_HUMAN
  • H0YAM1_HUMAN
genes like me logo Genes that share paralogs with GRSF1: view

Variants for GRSF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRSF1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs17854012 - p.Asp277Tyr

Additional dbSNP identifiers (rs#s) for GRSF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRSF1 Gene

Variant ID Type Subtype PubMed ID
esv3600940 CNV loss 21293372
nsv1012495 CNV gain 25217958
nsv4381 CNV insertion 18451855
nsv594651 CNV loss 21841781
nsv829966 CNV loss 17160897

Variation tolerance for GRSF1 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRSF1 Gene

Human Gene Mutation Database (HGMD)
GRSF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRSF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRSF1 Gene

Disorders for GRSF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRSF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 7, autosomal recessive
  • spg7
- elite association - COSMIC cancer census association via MalaCards
Search GRSF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GRSF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GRSF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRSF1 Gene

Publications for GRSF1 Gene

  1. GRSF-1: a poly(A)+ mRNA binding protein which interacts with a conserved G-rich element. (PMID: 8036161) Qian Z … Wilusz J (Nucleic acids research 1994) 2 3 4 23 54
  2. Dedicated surveillance mechanism controls G-quadruplex forming non-coding RNAs in human mitochondria. (PMID: 29967381) Pietras Z … Szczesny RJ (Nature communications 2018) 3 4 54
  3. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. (PMID: 25683715) Antonicka H … Shoubridge EA (Cell reports 2015) 3 4 54
  4. GRSF1 regulates RNA processing in mitochondrial RNA granules. (PMID: 23473034) Jourdain AA … Martinou JC (Cell metabolism 2013) 3 4 54
  5. The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression. (PMID: 23473033) Antonicka H … Shoubridge EA (Cell metabolism 2013) 3 4 54

Products for GRSF1 Gene

Sources for GRSF1 Gene