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

Gene ID: 158158, updated on 17-Sep-2021

Summary

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
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

See RASEF in Genome Data Viewer
Location:
9q21.32
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (82979589..83063172, complement)
105.20201022 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 ribosomal protein S6 pseudogene 12 Neighboring gene VISTA enhancer hs618 Neighboring gene uncharacterized LOC112268037 Neighboring gene RN7SK pseudogene 242

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables GDP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GTPase activity IEA
Inferred from Electronic Annotation
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 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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_152573.4NP_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
    Q8IZ41
    Related
    ENSP00000365630.3, ENST00000376447.4
    Conserved Domains (3) summary
    cd00154
    Location:542706
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    cd00051
    Location:1271
    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:174351
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    82979589..83063172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251730.4XP_005251787.1  ras and EF-hand domain-containing protein isoform X1

    Conserved Domains (6) summary
    smart00175
    Location:519688
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:519683
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    cd00051
    Location:1271
    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:1371
    EF-hand_7; EF-hand domain pair
    cl09111
    Location:213312
    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:142237
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
  2. XM_005251731.4XP_005251788.1  ras and EF-hand domain-containing protein isoform X2

    Conserved Domains (4) summary
    smart00175
    Location:413582
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:413577
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    TIGR04527
    Location:136267
    mycoplas_twoTM; two transmembrane protein
    cl19511
    Location:16108
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
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