RASEF (RAS and EF-hand domain containing)

Gene

• Entrez ID: 158158
• Gene name: RAS and EF-hand domain containing
• Gene symbol: RASEF
• Synonyms (NCBI Gene): RAB45, TSG
• Chromosome: 9
• Chromosome location: 9q21.32
• 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 be

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030764	hsa-miR-21-5p	Microarray	18591254
MIRT566124	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT566123	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT566122	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT566121	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT566120	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT566119	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT566118	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT566117	hsa-miR-6835-3p	PAR-CLIP	20371350
MIRT566116	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT566115	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT566114	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT566113	hsa-miR-4422	PAR-CLIP	20371350
MIRT566112	hsa-miR-5700	PAR-CLIP	20371350
MIRT566111	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT439814	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439814	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT566124	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT566123	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT566122	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT566121	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT566120	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT566119	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT566118	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT566117	hsa-miR-6835-3p	PAR-CLIP	20371350
MIRT566116	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT566115	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT566114	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT566113	hsa-miR-4422	PAR-CLIP	20371350
MIRT566112	hsa-miR-5700	PAR-CLIP	20371350
MIRT566111	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT2311786	hsa-miR-224	CLIP-seq
MIRT2311787	hsa-miR-377	CLIP-seq
MIRT2311788	hsa-miR-4719	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	22399288
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IMP	17448446
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0019003	Function	GDP binding	IBA
GO:0019003	Function	GDP binding	IMP	17448446
GO:0042802	Function	Identical protein binding	IPI	17448446
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	17448446

Other IDs

• MIM: 611344
• HGNC: 26464
• e!Ensembl: ENSG00000165105

Protein

• UniProt ID: Q8IZ41
• Protein name: Ras and EF-hand domain-containing protein (Ras-related protein Rab-45)
• Protein function: Binds predominantly GDP, and also GTP (PubMed:17448446). Acts as a dynein adapter protein that activates dynein-mediated transport and dynein-dynactin motility on microtubules (PubMed:30814157). {ECO:0000269|PubMed:17448446, ECO:0000269|PubMed:3
• PDB: 2P5S, 2PMY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13499	EF-hand_7	10 → 72	EF-hand domain pair	Domain
  PF00071	Ras	543 → 710	Ras family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Down-regulated in cutaneous melanoma cells but not in breast cancer cells. {ECO:0000269|PubMed:16174859}.
• Sequence:

  MEADGDGEELARLRSVFAACDANRSGRLEREEFRALCTELRVRPADAEAVFQRLDADRDG
  AITFQEFARGFLGSLRGGRRRDWGPLDPAPAVSEAGPETHDSEEDEGDEDAAAALATSCG
  PASPGRAWQDFQARLGDEAKFIPREEQVSTLYQNINLVEPRLIQPYEHVIKNFIREIRLQ
  STEMENLAIAVKRAQDKAAMQLSELEEEMDQRIQAAEHKTRKDEKRKAEEALSDLRRQYE
  TEVGDLQVTIKKLRKLEEQSKRVSQKEDVAALKKQIYDLSMENQKVKKDLLEAQTNIAFL
  QSELDALKSDYADQSLNTERDLEIIRAYTEDRNSLERQIEILQTANRKLHDSNDGLRSAL
  ENSYSKFNRSLHINNISPGNTISRSSPKFIGHSPQPLGYDRSSRSSYVDEDCDSLALCDP
  LQRTNCEVDSLPESCFDSGLSTLRDPNEYDSEVEYKHQRGFQRSHGVQESFGGDASDTDV
  PDIRDEETFGLEDVASVLDWKPQGSVSEGSIVSSSRKPISALSPQTDLVDDNAKSFSSQK
  AYKIVLAGDAAVGKSSFLMRLCKNEFRENISATLGVDFQMKTLIVDGERTVLQLWDTAGQ
  ERFRSIAKSYFRKADGVLLLYDVTCEKSFLNIREWVDMIEDAAHETVPIMLVGNKADIRD
  TAATEGQKCVPGHFGEKLAMTYGALFCETSAKDGSNIVEAVLHLAREVKKRTDKDDSRSI
  TNLTGTNSKKSPQMKNCCNG

• Sequence length: 740

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RASEF-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinogenesis	Associate	23686708	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	23686708	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Stimulate	23686708	★☆☆☆☆ Found in Text Mining only