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Aliases for RASEF Gene

Aliases for RASEF Gene

  • RAS And EF-Hand Domain Containing 2 3 5
  • Ras-Related Protein Rab-45 3 4
  • RAB45 3 4
  • Ras And EF-Hand Domain-Containing Protein 3
  • RAB45, Member RAS Oncogene Family 2

External Ids for RASEF Gene

Previous HGNC Symbols for RASEF Gene

  • RAB45

Previous GeneCards Identifiers for RASEF Gene

  • GC09M081055
  • GC09M082826
  • GC09M084784
  • GC09M085594
  • GC09M055422
  • GC09M083086
  • GC09M083230
  • GC09M083235
  • GC09M083239
  • GC09M083243
  • GC09M083245

Summaries for RASEF Gene

Entrez Gene Summary for RASEF Gene

  • This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for RASEF Gene

RASEF (RAS And EF-Hand Domain Containing) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and GTPase activity. An important paralog of this gene is RAB44.

UniProtKB/Swiss-Prot for RASEF Gene

  • Binds predominantly GDP, and also GTP.

Additional gene information for RASEF Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASEF Gene

Genomics for RASEF Gene

Regulatory Elements for RASEF Gene

Enhancers for RASEF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H083026 0.9 Ensembl ENCODE 10.6 +34.9 34876 3 SMARCE1 JUN CEBPB DPF2 CTBP1 JUND GATA3 ZNF629 FOSL2 FOS RASEF PIR40839 GC09M083273
GH09H083012 0.5 ENCODE 10.9 +49.7 49719 2 FOXA2 SCRT2 ZNF10 FOS MAFK RASEF GC09M083273 PIR40839
GH09H083032 0.4 ENCODE 10.6 +31.0 30957 0 CREB1 RASEF PIR40839 GC09M083273
GH09H083024 0.2 ENCODE 10.4 +38.4 38397 0 RASEF PIR40839 GC09M083273
GH09H083060 1 ENCODE 0.7 +1.1 1105 3 SIN3A GLIS2 FOS SP3 ZNF623 SREBF1 CBX8 GLIS1 SP7 CTCF RASEF PIR40839
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RASEF on UCSC Golden Path with GeneCards custom track

Promoters for RASEF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000236793 -323 200 ZNF639 ZEB2 BMI1 ZBTB7A OSR2 E2F1 PRDM6 CBX8 ZNF341 ZNF580
ENSR00000336264 377 801 NFIB SREBF2 SIN3A ZEB1 GLIS2 SCRT2 SP3 HCFC1 ZEB2 SREBF1

Genomic Location for RASEF Gene

Chromosome:
9
Start:
82,979,585 bp from pter
End:
83,063,177 bp from pter
Size:
83,593 bases
Orientation:
Minus strand

Genomic View for RASEF Gene

Genes around RASEF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RASEF Gene

Proteins for RASEF Gene

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

    Protein Symbol:
    Q8IZ41-RASEF_HUMAN
    Recommended name:
    Ras and EF-hand domain-containing protein
    Protein Accession:
    Q8IZ41
    Secondary Accessions:
    • A6NC29
    • Q96N04

    Protein attributes for RASEF Gene

    Size:
    740 amino acids
    Molecular mass:
    82879 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for RASEF Gene

    Alternative splice isoforms for RASEF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASEF Gene

Post-translational modifications for RASEF Gene

  • Ubiquitination at isoforms=171, Lys366, and isoforms=388
  • Modification sites at PhosphoSitePlus

Other Protein References for RASEF Gene

No data available for DME Specific Peptides for RASEF Gene

Domains & Families for RASEF Gene

Gene Families for RASEF Gene

Suggested Antigen Peptide Sequences for RASEF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZ41

UniProtKB/Swiss-Prot:

RASEF_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RASEF: view

Function for RASEF Gene

Molecular function for RASEF Gene

UniProtKB/Swiss-Prot Function:
Binds predominantly GDP, and also GTP.

Phenotypes From GWAS Catalog for RASEF Gene

Gene Ontology (GO) - Molecular Function for RASEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RASEF: view
genes like me logo Genes that share phenotypes with RASEF: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RASEF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for RASEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASEF Gene

Cytoplasm, perinuclear region.

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 RASEF gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RASEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with RASEF: view

Pathways & Interactions for RASEF Gene

SuperPathways for RASEF Gene

No Data Available

Gene Ontology (GO) - Biological Process for RASEF Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RASEF Gene

Drugs & Compounds for RASEF Gene

(1) Drugs for RASEF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RASEF: view

Transcripts for RASEF Gene

mRNA/cDNA for RASEF Gene

Unigene Clusters for RASEF Gene

RAS and EF-hand domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RASEF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for RASEF Gene

GeneLoc Exon Structure for
RASEF
ECgene alternative splicing isoforms for
RASEF

Expression for RASEF Gene

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

mRNA differential expression in normal tissues according to GTEx for RASEF Gene

This gene is overexpressed in Pancreas (x9.5), Minor Salivary Gland (x5.7), Colon - Transverse (x4.6), Thyroid (x4.6), and Stomach (x4.5).

Protein differential expression in normal tissues from HIPED for RASEF Gene

This gene is overexpressed in Brain (43.1), Adipocyte (12.8), and Urine (10.8).

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



Protein tissue co-expression partners for RASEF Gene

NURSA nuclear receptor signaling pathways regulating expression of RASEF Gene:

RASEF

SOURCE GeneReport for Unigene cluster for RASEF Gene:

Hs.129136

mRNA Expression by UniProt/SwissProt for RASEF Gene:

Q8IZ41-RASEF_HUMAN
Tissue specificity: Down-regulated in cutaneous melanoma cells but not in breast cancer cells.

Evidence on tissue expression from TISSUES for RASEF Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with RASEF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASEF Gene

Orthologs for RASEF Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RASEF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASEF 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia RASEF 33 34
  • 88.33 (n)
dog
(Canis familiaris)
Mammalia RASEF 33 34
  • 88.02 (n)
mouse
(Mus musculus)
Mammalia Rasef 33 16 34
  • 82.84 (n)
rat
(Rattus norvegicus)
Mammalia Rasef 33
  • 81.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RASEF 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASEF 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASEF 33 34
  • 74.65 (n)
lizard
(Anolis carolinensis)
Reptilia RASEF 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147600 33
  • 68.7 (n)
Str.6533 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4418 33
zebrafish
(Danio rerio)
Actinopterygii rasef 33 34
  • 60.08 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-312 33 34
  • 46.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 34
  • 27 (a)
ManyToMany
YPT52 34
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for RASEF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)

Evolution for RASEF Gene

ENSEMBL:
Gene Tree for RASEF (if available)
TreeFam:
Gene Tree for RASEF (if available)

Paralogs for RASEF Gene

Variants for RASEF Gene

Sequence variations from dbSNP and Humsavar for RASEF Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000014293 -- 83,033,872(+) TCTTA(C/T)TAATG intron-variant
rs1000058055 -- 82,981,055(+) CACCG(C/G/T)GAACA utr-variant-3-prime
rs1000095239 -- 83,030,623(+) TCACA(C/T)GGTTA intron-variant
rs1000158307 -- 82,997,363(+) ACCCC(A/C)AGAAT intron-variant
rs1000160887 -- 83,006,519(+) AAAAA(A/G)GGTCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2661414 CNV deletion 23128226
nsv1043722 CNV gain 25217958
nsv436616 CNV deletion 17901297
nsv6585 CNV deletion 18451855

Variation tolerance for RASEF Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RASEF Gene

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

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

Disorders for RASEF Gene

Relevant External Links for RASEF

Genetic Association Database (GAD)
RASEF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASEF

No disorders were found for RASEF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RASEF Gene

Publications for RASEF Gene

  1. Characterization of Rab45/RASEF containing EF-hand domain and a coiled-coil motif as a self-associating GTPase. (PMID: 17448446) Shintani M … Katada T (Biochemical and biophysical research communications 2007) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. (PMID: 24703243) Kaplon J … Peeper DS (Pigment cell & melanoma research 2014) 3 60

Products for RASEF Gene

Sources for RASEF Gene

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