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

Gene ID: 158158, updated on 11-Apr-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
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Genomic context

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Location:
9q21.32
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (82979590..83219224, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (95129181..95212707, complement)
105.20220307 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
  • 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. 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
  3. Testis-Specific GTPase (TSG): An oligomeric protein. Kumar S, et al. BMC Genomics, 2016 Oct 10. PMID 27724860, Free PMC Article
  4. 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
  5. Small GTPase RAB45-mediated p38 activation in apoptosis of chronic myeloid leukemia progenitor cells. Nakamura S, et al. Carcinogenesis, 2011 Dec. PMID 21890458

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_2023_10

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

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