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FLASH GENE

Symbol

NFKBIL1

contributors: mct/npt - updated : 27-08-2013

HGNC name	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
HGNC id	7800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.33      Physical location : 2.800.201 - 31.526.605
Synonym name	I kappa B-like protein
	inhibitor of kappa light chain gene enhancer in B
	cells-like
Synonym symbol(s)	IKBL, LST1, NFKBIL, IkappaBL

DNA

TYPE	functioning gene
STRUCTURE	11.98 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see LTA ,MHC1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001144961 4 - 1465 NP_001138433 - 366 - Shiina (1998) NM_001144962 4 - 1457 NP_001138434 - 358 - Shiina (1998) NM_001144963 4 - 1412 NP_001138435 - 343 - Shiina (1998) NM_005007 4 - 1510 NP_004998 - 381 - Shiina (1998)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Endocrine neuroendocrine pituitary         pancreas       highly Reproductive male system prostate       Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY	nuclear I&
	954;appaB family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	nuclear transcription factor of kappa light chain gene enhancer in B cells
	inhibitor of REL/NFKB transcription factors
	(NF-kappa B) inhibitor, sequestering it in the cytoplasm, also inhibiting NF-kappa B DNA binding
	influences the risk of developing systemic lupus erythematosus and primary Sjögren's syndrome
	affected the pathogenesis of rheumatoid arthritis at least in part through the regulation of dendritic cells functions
	functions in the nucleus and controls various inflammatory responses including autoimmune arthritis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

may interact with members of the NF-kappaB/Rel family (Castiblanco 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

rheumatoid arthritis to systemic lupus erythematosus (SLE)and Sjögren's syndrome (SS) to the development of chronic Chagas' cardiomyopathy among Trypanosoma cruzi-infected individuals (CCC)

Variant & Polymorphism SNP	96452(T/A) increase the risk of rheumatoid arthritis
	+738C allele was associated with a more than twofold and threefold increase in the risk of SLE and SS respectively, relative to the +738T allele (Castiblanco 2008)
	-262A -62A was prevalent in patients with CCC (Ramasawmy 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS