RBCC Red Blood Cell Collection

CIKS_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: TRAF3IP2 , C6orf2, C6orf4, C6orf5, C6orf6
Protein names and data: CIKS_HUMAN , Adapter protein CIKS , Connection to IKK and SAPK/JNK; Nuclear factor NF-kappa-B activator 1; ACT1; TRAF3-interacting protein 2 Lenght: 574 a.a.
Mass: 64666 Da
fasta formatted sequence
Function: Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.
Disease: ( OMIM: 607043 614070 ) Psoriasis 13 (PSORS13) [MIM:614070]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue specificity: Widely expressed.

Genetic variants

19 - 19 D -> N (in PSORS13; there is a reducing binding of this variant to TRAF6; dbSNP:rs33980500). VAR_047349 33980500
83 - 83 R -> W (in dbSNP:rs13190932). VAR_031227 13190932
332 - 332 H -> Q (in dbSNP:rs1043730). VAR_024307 1043730

Database cross-references

UniProt: O43734
Ensembl: ENST00000340026
Ensembl: ENST00000359831
Ensembl: ENST00000368735
Ensembl: ENST00000368761
Ensembl: ENST00000392556
MIM: 607043
MIM: 614070
neXtProt: NX_O43734
Antibodypedia: O43734 (may not find the protein thus also not any antibody)
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