• Gene id: 158158

Gene Summary

• Gene Symbol: RASEF   Gene   UCSC   Ensembl
• Aliases: RAB45
• Gene name: RAS and EF-hand domain containing
• Alternate names: ras and EF-hand domain-containing protein, ras-related protein Rab-45,
• Gene location: 9q21.32 (83063171: 82979588)     Exons: 18     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 0

Protein Summary

• Protein general information: Q8IZ41  
  • Name: Ras and EF hand domain containing protein (Ras related protein Rab 45)
  • Length: 740  
  • Mass: 82879
  • Tissue specificity: Down-regulated in cutaneous melanoma cells but not in breast cancer cells. {ECO
• Sequence:

  MEADGDGEELARLRSVFAACDANRSGRLEREEFRALCTELRVRPADAEAVFQRLDADRDGAITFQEFARGFLGSL
  RGGRRRDWGPLDPAPAVSEAGPETHDSEEDEGDEDAAAALATSCGPASPGRAWQDFQARLGDEAKFIPREEQVST
  LYQNINLVEPRLIQPYEHVIKNFIREIRLQSTEMENLAIAVKRAQDKAAMQLSELEEEMDQRIQAAEHKTRKDEK
  RKAEEALSDLRRQYETEVGDLQVTIKKLRKLEEQSKRVSQKEDVAALKKQIYDLSMENQKVKKDLLEAQTNIAFL
  QSELDALKSDYADQSLNTERDLEIIRAYTEDRNSLERQIEILQTANRKLHDSNDGLRSALENSYSKFNRSLHINN
  ISPGNTISRSSPKFIGHSPQPLGYDRSSRSSYVDEDCDSLALCDPLQRTNCEVDSLPESCFDSGLSTLRDPNEYD
  SEVEYKHQRGFQRSHGVQESFGGDASDTDVPDIRDEETFGLEDVASVLDWKPQGSVSEGSIVSSSRKPISALSPQ
  TDLVDDNAKSFSSQKAYKIVLAGDAAVGKSSFLMRLCKNEFRENISATLGVDFQMKTLIVDGERTVLQLWDTAGQ
  ERFRSIAKSYFRKADGVLLLYDVTCEKSFLNIREWVDMIEDAAHETVPIMLVGNKADIRDTAATEGQKCVPGHFG
  EKLAMTYGALFCETSAKDGSNIVEAVLHLAREVKKRTDKDDSRSITNLTGTNSKKSPQMKNCCNG

• Structural information:
  • Protein Domains: (8..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (42..7-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR027417  IPR005225   IPR001806  
  • Prosite: PS00018 PS50222 PS51419
  • CDD: cd00051
  • PDB: 2P5S 2PMY
  • PDBsum: 2P5S 2PMY
  • STRING: ENSP00000365630
• Other Databases: GeneCards:  RASEF  Malacards:  RASEF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IMP	cellular component
GO:0019003	GDP binding	IMP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005525	GTP binding	IMP	molecular function
GO:0005829	cytosol	IMP	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq