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    RASEF RAS and EF-hand domain containing [ Homo sapiens (human) ]

    Gene ID: 158158, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RASEFprovided by HGNC
    Official Full Name
    RAS and EF-hand domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:26464
    See related
    Ensembl:ENSG00000165105 MIM:611344; AllianceGenome:HGNC:26464
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSG; RAB45
    Summary
    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]
    Expression
    Broad expression in stomach (RPKM 15.4), thyroid (RPKM 14.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASEF in Genome Data Viewer
    Location:
    9q21.32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (82979590..83219224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (95129181..95212707, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (85594505..85678057, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987087 Neighboring gene uncharacterized LOC124902188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:85372393-85372892 Neighboring gene uncharacterized LOC124902189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:85389408-85390018 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_108276 Neighboring gene ribosomal protein S6 pseudogene 12 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:85478762-85479961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:85496837-85497338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:85497339-85497838 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:85498304-85499130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:85500782-85501606 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:85503259-85504084 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:85504085-85504909 Neighboring gene VISTA enhancer hs618 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:85842683-85843384 Neighboring gene RN7SK pseudogene 242 Neighboring gene FRMD3 antisense RNA 1 Neighboring gene uncharacterized LOC124902190 Neighboring gene RNA, U4 small nuclear 29, pseudogene Neighboring gene FERM domain containing 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma. Maat W, et al. Invest Ophthalmol Vis Sci, 2008 Apr. PMID 18385040
    2. Characterization of Rab45/RASEF containing EF-hand domain and a coiled-coil motif as a self-associating GTPase. Shintani M, et al. Biochem Biophys Res Commun, 2007 Jun 8. PMID 17448446
    3. CRACR2a is a calcium-activated dynein adaptor protein that regulates endocytic traffic. Wang Y, et al. J Cell Biol, 2019 May 6. PMID 30814157, Free PMC Article
    4. Testis-Specific GTPase (TSG): An oligomeric protein. Kumar S, et al. BMC Genomics, 2016 Oct 10. PMID 27724860, Free PMC Article
    5. Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. Kaplon J, et al. Pigment Cell Melanoma Res, 2014 Jul. PMID 24703243

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma.
      Title: Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma.
    2. overexpression of RAB45 increased the phosphorylation levels of p38, resulting in the induction of apoptosis and inhibition of proliferation of CML progenitor cells
      Title: Small GTPase RAB45-mediated p38 activation in apoptosis of chronic myeloid leukemia progenitor cells.
    3. Homozygosity, in combination with methylation, appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for RASEF.
      Title: Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31614

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras and EF-hand domain-containing protein
    Names
    ras-related protein Rab-45

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152573.4 → NP_689786.2  ras and EF-hand domain-containing protein

      See identical proteins and their annotated locations for NP_689786.2

      Status: REVIEWED

      Source sequence(s)
      AL499602, BC023566, BM982321
      Consensus CDS
      CCDS6662.1
      UniProtKB/Swiss-Prot
      A6NC29, Q8IZ41, Q96N04
      UniProtKB/TrEMBL
      A8K4M1
      Related
      ENSP00000365630.3, ENST00000376447.4
      Conserved Domains (3) summary
      cd00154
      Location:542 → 706
      Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
      cd00051
      Location:12 → 71
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl25732
      Location:174 → 351
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      82979590..83219224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422827.1 → XP_047278783.1  ras and EF-hand domain-containing protein isoform X4

    2. XM_005251730.5 → XP_005251787.1  ras and EF-hand domain-containing protein isoform X1

      UniProtKB/TrEMBL
      A8K4M1
      Conserved Domains (6) summary
      smart00175
      Location:519 → 688
      RAB; Rab subfamily of small GTPases
      cd00154
      Location:519 → 683
      Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
      cd00051
      Location:12 → 71
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:13 → 71
      EF-hand_7; EF-hand domain pair
      cl09111
      Location:213 → 312
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl19511
      Location:142 → 237
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    3. XM_047422826.1 → XP_047278782.1  ras and EF-hand domain-containing protein isoform X3

    4. XM_005251731.5 → XP_005251788.1  ras and EF-hand domain-containing protein isoform X2

      UniProtKB/TrEMBL
      A8K4M1
      Conserved Domains (4) summary
      smart00175
      Location:413 → 582
      RAB; Rab subfamily of small GTPases
      cd00154
      Location:413 → 577
      Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
      TIGR04527
      Location:136 → 267
      mycoplas_twoTM; two transmembrane protein
      cl19511
      Location:16 → 108
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      95129181..95212707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362068.1 → XP_054218043.1  ras and EF-hand domain-containing protein isoform X1

    2. XM_054362070.1 → XP_054218045.1  ras and EF-hand domain-containing protein isoform X3

    3. XM_054362069.1 → XP_054218044.1  ras and EF-hand domain-containing protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ41.1 GenPept UniProtKB/Swiss-Prot:Q8IZ41

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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