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

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; 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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3059 (e-PCR)
- UniSTS:152157

RH92568 (e-PCR)
- UniSTS:88961

WI-11205 (e-PCR)
- UniSTS:79003

SHGC-111590 (e-PCR)
- UniSTS:168417

RH70056 (e-PCR)
- UniSTS:59115

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)

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

82979590..83219224 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422827.1 → XP_047278783.1 ras and EF-hand domain-containing protein isoform X4
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)
XM_047422826.1 → XP_047278782.1 ras and EF-hand domain-containing protein isoform X3
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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

95129181..95212707 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362068.1 → XP_054218043.1 ras and EF-hand domain-containing protein isoform X1
XM_054362070.1 → XP_054218045.1 ras and EF-hand domain-containing protein isoform X3
XM_054362069.1 → XP_054218044.1 ras and EF-hand domain-containing protein isoform X2