RBCC Red Blood Cell Collection

IKBA_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: NFKBIA , IKBA, MAD3, NFKBI
Protein names and data: IKBA_HUMAN , NF-kappa-B inhibitor alpha , I-kappa-B-alpha; IkB-alpha; IkappaBalpha; Major histocompatibility complex enhancer-binding protein MAD3 Lenght: 317 a.a.
Mass: 35609 Da
fasta formatted sequence
Function: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.
Disease: ( OMIM: 164008 612132 ) Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export (By similarity).

Genetic variants

32 - 32 S -> I (in ADEDAID; dbSNP:rs28933100). VAR_034871 28933100

Database cross-references

UniProt: P25963
Ensembl: ENST00000216797
MIM: 164008
MIM: 612132
neXtProt: NX_P25963
Antibodypedia: P25963 (may not find the protein thus also not any antibody)
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