RBCC Red Blood Cell Collection

RAB18_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: RAB18
Protein names and data: RAB18_HUMAN , Ras-related protein Rab-18; Flags: Precursor Lenght: 206 a.a.
Mass: 22977 Da
fasta formatted sequence
Function: Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.
Disease: ( OMIM: 602207 614222 ) Warburg micro syndrome 3 (WARBM3) [MIM:614222]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
Tissue specificity: Ubiquitous.

Genetic variants

24 - 24 L -> Q (in WARBM3). VAR_066495
93 - 93 Missing (in WARBM3). VAR_066496
113 - 113 N -> S (in dbSNP:rs12268932). VAR_051713 12268932
198 - 198 A -> T (in dbSNP:rs11015859). VAR_034432 11015859

Database cross-references

UniProt: Q9NP72
Ensembl: ENST00000356940
Ensembl: ENST00000535776
MIM: 602207
MIM: 614222
neXtProt: NX_Q9NP72
Antibodypedia: Q9NP72 (may not find the protein thus also not any antibody)
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