Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in ... See more...

Aliases for RAE1 Gene

Aliases for RAE1 Gene

  • Ribonucleic Acid Export 1 2 3 5
  • Rae1 Protein Homolog 3 4
  • MRNA Export Factor 3 4
  • MRNP41 3 4
  • Mnrp41 2 3
  • Gle2 2 3
  • Homolog Of Yeast Rae1 (Bharathi) MRNA-Associated Protein Of 41 KDa (Kraemer) 3
  • RAE1 (RNA Export 1, S.Pombe) Homolog 2
  • RAE1 RNA Export 1 Homolog (S. Pombe) 2
  • MRNA-Associated Protein MRNP 41 3
  • MRNA-Associated Protein Mrnp 41 4
  • MRNA-Binding Protein, 41-KD 3
  • Migration-Inducing Gene 14 3
  • RAE1 RNA Export 1 Homolog 3
  • MRNA Export Protein 3
  • DJ481F12.3 3
  • DJ800J21.1 3
  • MIG14 3
  • RAE1 5

External Ids for RAE1 Gene

Previous GeneCards Identifiers for RAE1 Gene

  • GC20P055654
  • GC20P056564
  • GC20P056611
  • GC20P055359
  • GC20P055926
  • GC20P052708

Summaries for RAE1 Gene

Entrez Gene Summary for RAE1 Gene

  • Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAE1 Gene

RAE1 (Ribonucleic Acid Export 1) is a Protein Coding gene. Diseases associated with RAE1 include Lethal Congenital Contracture Syndrome 1 and Anterior Horn Cell Disease. Among its related pathways are Transport of the SLBP independent Mature mRNA and Cellular response to heat stress. Gene Ontology (GO) annotations related to this gene include RNA binding and microtubule binding. An important paralog of this gene is BUB3.

UniProtKB/Swiss-Prot Summary for RAE1 Gene

  • Plays a role in mitotic bipolar spindle formation (PubMed:17172455). Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton.

Gene Wiki entry for RAE1 Gene

Additional gene information for RAE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAE1 Gene

Genomics for RAE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAE1

Top Transcription factor binding sites by QIAGEN in the RAE1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • IRF-1
  • POU2F1
  • POU2F1a

Genomic Locations for RAE1 Gene

Genomic Locations for RAE1 Gene
chr20:57,351,223-57,379,211
(GRCh38/hg38)
Size:
27,989 bases
Orientation:
Plus strand
chr20:55,926,066-55,954,267
(GRCh37/hg19)
Size:
28,202 bases
Orientation:
Plus strand

Genomic View for RAE1 Gene

Genes around RAE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAE1 Gene

Proteins for RAE1 Gene

  • Protein details for RAE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78406-RAE1L_HUMAN
    Recommended name:
    mRNA export factor
    Protein Accession:
    P78406
    Secondary Accessions:
    • A8K882
    • O15306
    • Q3SYL7
    • Q5TCH8
    • Q6V708
    • Q9H100
    • Q9NQM6

    Protein attributes for RAE1 Gene

    Size:
    368 amino acids
    Molecular mass:
    40968 Da
    Quaternary structure:
    • Interacts with NUMA1 (via N-terminal end of the coiled-coil domain); this interaction promotes spindle formation in mitosis (PubMed:17172455). Interacts with NUP98 (PubMed:20498086). Interacts with MYCBP2 (PubMed:22357847).

    Three dimensional structures from OCA and Proteopedia for RAE1 Gene

neXtProt entry for RAE1 Gene

Post-translational modifications for RAE1 Gene

  • Ubiquitination at Lys154, Lys252, Lys340, and Lys350
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAE1 Gene

Domains & Families for RAE1 Gene

Gene Families for RAE1 Gene

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

Protein Domains for RAE1 Gene

Suggested Antigen Peptide Sequences for RAE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75499, highly similar to Homo sapiens RAE1 RNA export 1 homolog (S. pombe) (RAE1), mRNA (A8K882_HUMAN)
  • mRNA-associated protein mrnp 41 (RAE1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78406

UniProtKB/Swiss-Prot:

RAE1L_HUMAN :
  • Belongs to the WD repeat rae1 family.
Family:
  • Belongs to the WD repeat rae1 family.
genes like me logo Genes that share domains with RAE1: view

Function for RAE1 Gene

Molecular function for RAE1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in mitotic bipolar spindle formation (PubMed:17172455). Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton.

Phenotypes From GWAS Catalog for RAE1 Gene

Gene Ontology (GO) - Molecular Function for RAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 9256445
GO:0005515 protein binding IEA,IPI 17172455
GO:0008017 microtubule binding ISS 15851029
GO:0043130 ubiquitin binding IBA 21873635
genes like me logo Genes that share ontologies with RAE1: view
genes like me logo Genes that share phenotypes with RAE1: view

Animal Models for RAE1 Gene

MGI Knock Outs for RAE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAE1 Gene

Localization for RAE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAE1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Recruited from interphase nuclei to spindle MTs during mitosis. {ECO:0000269 PubMed:17172455}.

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 RAE1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nucleoli fibrillar center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus TAS 9370289
GO:0005635 nuclear envelope IEA,TAS --
GO:0005643 nuclear pore TAS,IDA 9256445
GO:0005737 cytoplasm TAS,IEA --
genes like me logo Genes that share ontologies with RAE1: view

Pathways & Interactions for RAE1 Gene

PathCards logo

SuperPathways for RAE1 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with RAE1: view

Pathways by source for RAE1 Gene

SIGNOR curated interactions for RAE1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000972 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery IBA 21873635
GO:0006110 regulation of glycolytic process TAS --
GO:0006405 RNA export from nucleus IBA 21873635
GO:0006406 mRNA export from nucleus IEA,TAS --
GO:0006409 tRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with RAE1: view

Drugs & Compounds for RAE1 Gene

(1) Additional Compounds for RAE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAE1: view

Transcripts for RAE1 Gene

mRNA/cDNA for RAE1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAE1

Alternative Splicing Database (ASD) splice patterns (SP) for RAE1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - - -
SP6:
SP7: - - - - - - - -
SP8:
SP9: -
SP10: - - - - - - - - -
SP11:
SP12: - - - - - - -

ExUns: 14a · 14b ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RAE1 Gene

GeneLoc Exon Structure for
RAE1

Expression for RAE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for RAE1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1) and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAE1 Gene



Protein tissue co-expression partners for RAE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAE1

SOURCE GeneReport for Unigene cluster for RAE1 Gene:

Hs.371698

Evidence on tissue expression from TISSUES for RAE1 Gene

  • Nervous system(4.5)
  • Skin(3.1)
  • Lung(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RAE1: 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 RAE1 Gene

Orthologs for RAE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAE1 30 31
  • 98.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAE1 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAE1 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RAE1 30 31
  • 92.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAE1 30 31
  • 91.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rae1 30 17 31
  • 88.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rae1 30
  • 86.41 (n)
Chicken
(Gallus gallus)
Aves RAE1 30 31
  • 83.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAE1 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rae1 30
  • 78.71 (n)
Str.7223 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24274 30
Zebrafish
(Danio rerio)
Actinopterygii rae1 30 31
  • 77.72 (n)
OneToOne
zgc56449 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9862 32
  • 68 (a)
Rae1 30 31
  • 62.89 (n)
OneToMany
CG12782 31 32
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012373 30
  • 63.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea rae-1 30 31
  • 51.1 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20703g 30
  • 52.08 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE2 30 31 33
  • 51.13 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL301C 30
  • 47.55 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G80670 30
  • 56.56 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0176800 30
  • 56.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1899 31
  • 73 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rae1 30
  • 52.45 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04288 30
  • 48.48 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6749 30
Species where no ortholog for RAE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAE1 Gene

ENSEMBL:
Gene Tree for RAE1 (if available)
TreeFam:
Gene Tree for RAE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAE1: view image

Paralogs for RAE1 Gene

Paralogs for RAE1 Gene

(1) SIMAP similar genes for RAE1 Gene using alignment to 6 proteins:

  • RAE1L_HUMAN
  • B0QZ36_HUMAN
  • B0QZ37_HUMAN
  • E9PPG9_HUMAN
  • E9PQ57_HUMAN
  • L0R530_HUMAN
genes like me logo Genes that share paralogs with RAE1: view

Variants for RAE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAE1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
713392 Benign: not provided 57,354,704(+) T/G INTRON_VARIANT
rs386352355 Uncertain Significance: not provided 57,366,839(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAE1 Gene

Variant ID Type Subtype PubMed ID
nsv1055983 CNV gain 25217958
nsv3424 CNV insertion 18451855
nsv459027 CNV loss 19166990
nsv586311 CNV loss 21841781
nsv965892 CNV duplication 23825009

Variation tolerance for RAE1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAE1 Gene

Disorders for RAE1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 1
  • lccs1
anterior horn cell disease
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search RAE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAE1

genes like me logo Genes that share disorders with RAE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAE1 Gene

Publications for RAE1 Gene

  1. The human RAE1 gene is a functional homologue of Schizosaccharomyces pombe rae1 gene involved in nuclear export of Poly(A)+ RNA. (PMID: 9370289) Bharathi A … Dhar R (Gene 1997) 2 3 4 23
  2. mRNA binding protein mrnp 41 localizes to both nucleus and cytoplasm. (PMID: 9256445) Kraemer D … Blobel G (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4
  3. RAE-1, a novel PHR binding protein, is required for axon termination and synapse formation in Caenorhabditis elegans. (PMID: 22357847) Grill B … Garner CC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2012) 3 4
  4. Structural and functional analysis of the interaction between the nucleoporin Nup98 and the mRNA export factor Rae1. (PMID: 20498086) Ren Y … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  5. Rae1 interaction with NuMA is required for bipolar spindle formation. (PMID: 17172455) Wong RW … Coutavas E (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4

Products for RAE1 Gene

  • Signalway Proteins for RAE1

Sources for RAE1 Gene