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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

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. Diseases associated with RASEF include Uveal Melanoma. 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.

No data available for 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
- Elite enhancer/Elite enhancer-gene association

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

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 Lys 171, Lys 366, and Lys 388
  • Modification sites at PhosphoSitePlus

Other Protein References for RASEF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RASEF

No data available for DME Specific Peptides for RASEF Gene

Domains & 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 :
  • Contains 2 EF-hand domains.
  • Belongs to the small GTPase superfamily. Rab family.
Domain:
  • Contains 2 EF-hand domains.
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.

Gene Ontology (GO) - Molecular Function for RASEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005525 GTP 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

Flow Cytometry Products

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
Jensen Localization Image for RASEF Gene COMPARTMENTS Subcellular localization image for RASEF gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RASEF Gene

GO ID Qualified GO term Evidence PubMed IDs
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with RASEF: view

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

Flow Cytometry Products

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 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.
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 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
cow
(Bos Taurus)
Mammalia RASEF 34
  • 88.33 (n)
  • 89.46 (a)
RASEF 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASEF 34
  • 88.02 (n)
  • 89.78 (a)
RASEF 35
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasef 34
  • 82.84 (n)
  • 82.95 (a)
Rasef 16
Rasef 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASEF 34
  • 99.32 (n)
  • 99.05 (a)
RASEF 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasef 34
  • 81.29 (n)
  • 78.84 (a)
oppossum
(Monodelphis domestica)
Mammalia RASEF 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASEF 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASEF 34
  • 74.65 (n)
  • 74.51 (a)
RASEF 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASEF 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC147600 34
  • 68.7 (n)
  • 70.25 (a)
Str.6533 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4418 34
zebrafish
(Danio rerio)
Actinopterygii rasef 34
  • 60.08 (n)
  • 56.52 (a)
rasef 35
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-312 34
  • 46.72 (n)
  • 36.13 (a)
tag-312 35
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT10 35
  • 27 (a)
ManyToMany
YPT52 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

Paralogs for RASEF Gene

genes like me logo Genes that share paralogs with RASEF: view

Variants for RASEF Gene

Sequence variations from dbSNP and Humsavar for RASEF Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs4146960 - 83,012,493(+) TACGC(A/G)TTTTG reference, missense
rs7853052 -- 82,982,897(+) GCTGA(A/G)TGTCT intron-variant
rs7854101 -- 82,997,618(+) TCACC(G/T)TGGGA intron-variant
rs7862012 -- 82,985,486(+) ACACA(A/G)CCAAA intron-variant
rs7864688 -- 82,982,330(+) TCAGC(C/T)ACCAC utr-variant-3-prime

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

MalaCards: The human disease database

(1) MalaCards diseases for RASEF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
uveal melanoma
  • melanoma of uvea
- elite association - COSMIC cancer census association via MalaCards
Search RASEF in MalaCards View complete list of genes associated with diseases

Relevant External Links for RASEF

Genetic Association Database (GAD)
RASEF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASEF
genes like me logo Genes that share disorders with RASEF: view

No data available for 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. (Biochem. Biophys. Res. Commun. 2007) 2 3 4 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65
  4. Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. (PMID: 24703243) Kaplon J. … Peeper D.S. (Pigment Cell Melanoma Res 2014) 3 65
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 65

Products for RASEF Gene

Sources for RASEF Gene

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