P25963

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession IKBA_HUMAN; P25963;
Entrez ID 4792
GenBank Protein ID
GenBank Nucleotide ID
Protein Name NF-kappa-B inhibitor alpha (I-kappa-B-alpha) (IkB-alpha) (IkappaBalpha) (Major histocompatibility complex enhancer-binding protein MAD3)
Gene Name NFKBIA; IKBA; MAD3; NFKBI
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionInhibits 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.
Sequence
(Fasta)
MFQAAERPQE WAMEGPRDGL KKERLLDDRH DSGLDSMKDE EYEQMVKELQ EIRLEPQEVP 60
RGSEPWKQQL TEDGDSFLHL AIIHEEKALT MEVIRQVKGD LAFLNFQNNL QQTPLHLAVI 120
TNQPEIAEAL LGAGCDPELR DFRGNTPLHL ACEQGCLASV GVLTQSCTTP HLHSILKATN 180
YNGHTCLHLA SIHGYLGIVE LLVSLGADVN AQEPCNGRTA LHLAVDLQNP DLVSLLLKCG 240
ADVNRVTYQG YSPYQLTWGR PSTRIQQQLG QLTLENLQML PESEDEESYD TESEFTEFTE 300
DELPYDDCVF GGQRLTL 318

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationAutosomal dominant anhidrotic ectodermal dysplasiaN14523047
[Reference]: This mutation is gain-of-function, as it enhances the inhibitory capacity of IkappaBalpha by preventing its phosphorylation and degradation, and results in impaired NF-kappaB activation.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 9)
(view all)
MESH:D002545 ; Brain Ischemia
MESH:D001943 ; Breast Neoplasms
MESH:D006528 ; Carcinoma, Hepatocellular
MESH:C567411 ; Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
MESH:D006689 ; Hodgkin Disease
MESH:D008106 ; Liver Cirrhosis, Experimental
HGMD
(count: 4)
CM076351; Ectodermal dysplasia, anhidrotic with immune deficiency; Missense/nonsense
CM082966; Ectodermal dysplasia, anhidrotic with immune deficiency; Missense/nonsense
CM033654; Ectodermal dysplasia, anhidrotic with immune deficiency; Missense/nonsense
CM056013; Hodgkin lymphoma; Missense/nonsense
GWASdb
(count: 1)
rs696; Psoriasis; psoriasis

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 11)
(view all)
166       SVGVLTQSCTTPHLH     dbPAF
283       NLQMLPESEDEESYD     dbPAF
288       PESEDEESYDTESEF     dbPAF
291       EDEESYDTESEFTEF     dbPAF
293       EESYDTESEFTEFTE     dbPAF
299       ESEFTEFTEDELPYD     dbPAF
Ubiquitination
(count: 4)
22        GPRDGLKKERLLDDR     PLMD
238       DLVSLLLKCGADVNR     PLMD
67        PRGSEPWKQQLTEDG     PLMD
87        LAIIHEEKALTMEVI     PLMD
Sumoylation
(count: 2)
21        EGPRDGLKKERLLDD     PLMD
22        GPRDGLKKERLLDDR     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
A0JLT2P25963IntAct; MINT;HPRD
F5GZ62P25963IntAct
O00411P25963IntAct
O14788P25963HPRD
O14920P25963HPRD; DIP; IntAct; MINT
O15111P25963HPRD; DIP; IntAct; MINT
O15379P25963HPRD
O60674P25963HPRD
O75116P25963IntAct
O95163P25963HPRD; DIP; IntAct; MINT
P04083P25963IntAct
P04350P25963IntAct
P04637P25963HPRD
P04792P25963HPRD
P05141P25963HPRD; IntAct
P05186P25963MINT
P06239P25963HPRD
P07384P25963HPRD
P07437P25963IntAct
P09564P25963IntAct
P09629P25963HPRD
P09651P25963HPRD
P0CG48P25963MINT
P11021P25963IntAct
P11142P25963IntAct
P12235P25963HPRD
P12931P25963HPRD
P17612P25963MINT
P17655P25963HPRD
P18031P25963HPRD; MINT
P18848P25963IntAct
P19387P25963IntAct
P19525P25963HPRD
P19838P25963DIP; IntAct; MINT;HPRD
P21980P25963IntAct
P23396P25963IntAct
P24723P25963BioGRID
P25205P25963IntAct
P25963P25963HPRD; IntAct
P25963P27986HPRD
P25963P29034BioGRID
P25963P31269HPRD
P25963P32121HPRD
P25963P33992HPRD; DIP; IntAct; MINT
P25963P33993HPRD; DIP; IntAct; MINT
P25963P34931IntAct
P25963P34932DIP
P25963P38646IntAct
P25963P41743HPRD
P25963P49407HPRD; IntAct
P25963P49427HPRD
P25963P50748BioGRID
P25963P55072HPRD; IntAct
P25963P61077HPRD
P25963P61201MINT
P25963P61457IntAct
P25963P62158IntAct
P25963P62829IntAct
P25963P62837HPRD
P25963P62988DIP
P25963P63165HPRD
P25963P63167HPRD
P25963P63208HPRD; DIP;IntAct; MINT
P25963P63261IntAct
P25963P68363HPRD
P25963P68400HPRD
P25963P98160BioGRID
P25963Q00610IntAct
P25963Q00653HPRD; DIP; IntAct; MINT;MINT;IntAct
P25963Q01201IntAct; MINT
P25963Q04206HPRD; DIP; IntAct; MINT;IntAct
P25963Q04864HPRD; DIP; IntAct; MINT
P25963Q12923IntAct;HPRD
P25963Q13547HPRD
P25963Q13616HPRD; DIP; MINT;MINT
P25963Q13748IntAct
P25963Q14164HPRD
P25963Q15418HPRD
P25963Q15653HPRD; DIP; IntAct; MINT
P25963Q3ZCQ8IntAct
P25963Q6EEV6HPRD
P25963Q71U36IntAct
P25963Q71UM5IntAct
P25963Q8N668HPRD; IntAct
P25963Q969T4HPRD
P25963Q96HA1HPRD; IntAct; MINT
P25963Q96HM7MINT
P25963Q99627HPRD
P25963Q99759HPRD
P25963Q9H2S9IntAct
P25963Q9H9T3IntAct
P25963Q9NRC1IntAct
P25963Q9NYR9HPRD
P25963Q9NYS0HPRD
P25963Q9UBC9IntAct
P25963Q9UDV6IntAct
P25963Q9UHD2HPRD
P25963Q9UKB1HPRD; DIP; IntAct; MINT;IntAct
P25963Q9UN86HPRD
P25963Q9Y297HPRD; MINT
P25963Q9Y2U5HPRD
P25963Q9Y3V2HPRD; IntAct
P25963Q9Y618HPRD
P25963Q9Y6K9HPRD; DIP; IntAct; MINT