RBCC Red Blood Cell Collection

VIME_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: VIM
Protein names and data: VIME_HUMAN , Vimentin Lenght: 466 a.a.
Mass: 53652 Da
fasta formatted sequence
Function: Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2.
Disease: ( OMIM: 116300 193060 ) Cataract 30 (CTRCT30) [MIM:116300]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.
Tissue specificity: Highly expressed in fibroblasts, some expression in T- and B-lymphocytes, and little or no expression in Burkitt's lymphoma cell lines. Expressed in many hormone- independent mammary carcinoma cell lines.

Genetic variants

151 - 151 E -> K (in CTRC30; the mutation increases the proteasome activity in transfected cells; causes also a severe kinetic defect in vimentin assembly both in vitro and in vivo). VAR_070100

Database cross-references

UniProt: P08670
Ensembl: ENST00000224237
Ensembl: ENST00000544301
MIM: 116300
MIM: 193060
neXtProt: NX_P08670
Antibodypedia: P08670 (may not find the protein thus also not any antibody)
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