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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RASEF Gene

protein-coding   GIFtS: 47
GCID: GC09M085594

RAS and EF-hand domain containing

(Previous names: RAB45, member RAS oncogene family )
(Previous symbol: RAB45)
 Explore 7 diseases affiliated with
RASEF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RASEF    

Aliases
for RASEF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
RAS And EF-Hand Domain Containing1 2
RAB451 2 3
Ras-Related Protein Rab-452 3
FLJ316141
RAB45, Member RAS Oncogene Family1
Ras And EF-Hand Domain-Containing Protein2

External Ids:    HGNC: 264641   Entrez Gene: 1581582   Ensembl: ENSG000001651057   OMIM: 6113445   UniProtKB: Q8IZ413   

Export aliases for RASEF gene to outside databases

Previous GC identifers: GC09M081055 GC09M082826 GC09M084784 GC09M055422


Summaries
for RASEF gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RASEF:
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)

UniProtKB/Swiss-Prot: RASEF_HUMAN, Q8IZ41
Function: Binds predominantly GDP, and also GTP




Genomic Views
for RASEF gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RASEF gene promoter:
         LHX3b/Lhx3b   SREBP-1c   Cdc5   SREBP-1b   Arnt   HEN1   PPAR-gamma1   SREBP-1a   LHX3a/Lhx3a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RASEF promoter sequence
   Search SABiosciences Chromatin IP Primers for RASEF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASEF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q21.33

RASEF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASEF gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M085594:  view genomic region     (about GC identifiers)

Start:
 85,594,500 bp from pter      End:
 85,678,092 bp from pter
Size:
 83,593 bases      Orientation:
 minus strand

Proteins
for RASEF gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RASEF_HUMAN, Q8IZ41 (See protein sequence)
Recommended Name: Ras and EF-hand domain-containing protein  
Size: 740 amino acids; 82879 Da
Subunit: Homodimer
Subcellular location: Cytoplasm, perinuclear region
2 PDB 3D structures from and Proteopedia for RASEF:
2P5S (3D)        2PMY (3D)    
Secondary accessions: A6NC29 Q96N04
Alternative splicing: 2 isoforms:  Q8IZ41-1   Q8IZ41-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RASEF: NX_Q8IZ41

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZ41

    • RASEF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689786.2  
    ENSEMBL proteins: 
     ENSP00000365630   ENSP00000345651  

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    Novus Biologicals RASEF Protein
    Novus Biologicals RASEF Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RASEF

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048471perinuclear region of cytoplasm IEA--


    RASEF for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RASEF

    Protein Domains /
    Families
    for RASEF gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RASEF for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry Q8IZ41

    ProtoNet protein and cluster: Q8IZ41

    4 Blocks protein families:
    IPB001806 Transforming protein P21 RAS signature
    IPB002041 GTP-binding nuclear protein Ran
    IPB003577 Ras small GTPase
    IPB003578 Ras small GTPase


    UniProtKB/Swiss-Prot: RASEF_HUMAN, Q8IZ41
    Similarity: Belongs to the small GTPase superfamily. Rab family
    Similarity: Contains 2 EF-hand domains


    Function
    for RASEF gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RASEF_HUMAN, Q8IZ41
    Function: Binds predominantly GDP, and also GTP

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: RASEF 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for RASEF

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005525GTP binding IEA--


    RASEF for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for RASEF:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 


    Pathways & Interactions
    for RASEF gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RASEF

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RASEF (ENSP000003656304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport IEA--


    RASEF for ontologies           About GeneDecksing



    Drugs & Compounds
    for RASEF gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RASEF

    1 HMDB Compound for RASEF    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about RASEF 

    Transcripts
    for RASEF gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RASEF gene: 
    NM_152573.3  

    Unigene Cluster for RASEF:

    RAS and EF-hand domain containing
    Hs.129136  [show with all ESTs]
    Unigene Representative Sequence: NM_152573
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376447(uc004amo.1) ENST00000340717(uc004amp.1)

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK056176.1 AK056882.1 AK290986.1 BC023566.1 

    6 DOTS entries:

    DT.95342572  DT.209561  DT.95155283  DT.95364767  DT.121154818  DT.95343689 

    24/68 AceView cDNA sequences (see all 68):

    NM_152573 AA775044 AI890787 BX103248 BE302954 AI915961 BU859847 AA601537 
    BM856433 AA976604 BE463583 AK056882 AA826324 BC023566 BM982321 BE303010 
    BG574207 BQ229028 BI759135 BF691828 AK056176 BX509641 BX099582 AW205358 

    GeneLoc Exon Structure


    Expression
    for RASEF gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RASEF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RASEF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RASEF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RASEF

    SOURCE GeneReport for Unigene cluster: Hs.129136

    UniProtKB/Swiss-Prot: RASEF_HUMAN, Q8IZ41
    Tissue specificity: Down-regulated in cutaneous melanoma cells but not in breast cancer cells

        SABiosciences Custom PCR Arrays for RASEF
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASEF

    Orthologs
    for RASEF gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for RASEF gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rasef1 , 5 RAS and EF hand domain containing1, 5 82.84(n)1
    82.95(a)1    		   4 (36.06 cM)5
    2425051  NM_001017427.11  NP_001017427.11 
     737145795 
    chicken
    (Gallus gallus)    		 Aves RASEF1 RAS and EF-hand domain containing 74.93(n)
    75.07(a)    		   427451  XM_003643027.1  XP_003643075.1 
    lizard
    (Anolis carolinensis)    		 Reptilia RASEF6
    		 --
    		 73(a)
    		 1 ↔ 1
    		 2(42954267-42997239)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.44182 Xenopus laevis transcribed sequence with weak similarity more 76.86(n)    48059247 
    zebrafish
    (Danio rerio)    		 Actinopterygii rasef1 RAS and EF-hand domain containing 59.82(n)
    55.69(a)    		   570731  XM_694243.4  XP_699335.4 
    worm
    (Caenorhabditis elegans)    		 Secernentea tag-3126
    		 Ras and EF-hand domain-containing protein homolog
    		 29(a)
    		 1 ↔ 1
    		 X(3055247-3059375)


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

    Paralogs
    for RASEF gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RASEF gene
    RAB442  
    18/70 SIMAP similar genes for RASEF using alignment to 2 protein entries:     RASEF_HUMAN (see all proteins) (see all similar genes):
    RAB5B    RAB43    RANP1    RAB8A    RAB15    RAB37
    RAB8B    RAB19    RAB2B    RAB13    RAB18    RAB1A
    RAB2A    RAB30    RAB3A    RAB17    RAB14    RAB1B

    RASEF for paralogs           About GeneDecksing



    Genomic Variants
    for RASEF gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1392 NCBI SNPs in RASEF are shown (see all 1392)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1453450281,2
    		--85596913(+) GTTTCC/TATTTT 1 -- int10--------
    rs1919558331,2
    		--85597001(+) CTATTA/GTTAAC 1 -- int10--------
    rs1819633221,2
    		--85597110(+) AGAAAC/GAGATC 1 -- int10--------
    rs1857164481,2
    		--85597122(+) GACATA/GGGCTT 1 -- int10--------
    rs78491261,2
    		C,F,A,H,--85597132(+) TGTGAT/CATGTC 1 -- int1 ese311Minor allele frequency- C:0.43NA WA CSA EA 377
    rs65596911,2
    		C,F,A,--85597192(+) TACTAG/CAACTT 1 -- int19Minor allele frequency- C:0.11NA WA CSA 380
    rs78646881,2
    		C,A,--85597245(+) TCAGCC/TACCAC 1 -- int111Minor allele frequency- T:0.38NA WA CSA EA 372
    rs765929331,2
    		C,--85597309(+) CTTTTC/G/TTTTTC 1 -- int11CSA 1
    rs2003646611,2
    		--85597314(+) TTTTC-/TTTTTT 1 -- spd10--------
    rs734675221,2
    		C,F,--85597376(+) ATGACT/CAGTCT 1 -- ut314Minor allele frequency- C:0.07WA CSA EA 242

    HapMap Linkage Disequilibrium report for RASEF (85594500 - 85678092 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for RASEF
         2 CNVs: 22674 96156

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for RASEF gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RASEF for disorders           About GeneDecksing

    OMIM gene information: 611344    OMIM disorders: --

    7 diseases for RASEF:    About MalaCards
    cutaneous malignant melanoma    myeloid leukemia    chronic myeloid leukemia    acute myeloid leukemia
    leukemia    melanoma    breast cancer


    Export disorders for RASEF gene to outside databases

    Publications
    for RASEF gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RASEF gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with RASEF)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Rab45/RASEF containing EF-hand domain and a coiled-coil motif as a self-associating GTPase. (PubMed id 17448446)1, 2 Shintani M.... Katada T. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Small GTPase RAB45-mediated p38 activation in apoptos is of chronic myeloid leukemia progenitor cells. (PubMed id 21890458)1 Nakamura S....Ohnishi K. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma. (PubMed id 18385040)1 Maat W....van der Velden P.A. (2008)
    8. Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32. (PubMed id 16174859)2 Joensson G.... Borg A. (2005)
    9. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia. (PubMed id 16015647)2 Sweetser D.A.... Daly S.B. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for RASEF gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RASEF gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 158158 HGNC: 26464 AceView: RASEF Ensembl:ENSG00000165105 euGenes: HUgn158158
    ECgene: RASEF H-InvDB: RASEF

    Other Databases showing RASEF gene

    (According to HUGE)
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    Specialized Databases showing RASEF gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RASEF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RASEF Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
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