Reviewed, UniProtKB/Swiss-Prot Q9UBC1 (IKBL1_HUMAN)

Names and origin

Protein names

Recommended name:
    NF-kappa-B inhibitor-like protein 1
Alternative name(s):
    Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
    Inhibitor of kappa B-like protein
      Short name=I-kappa-B-like protein
      Short name=IkappaBL

Gene names

Name:	NFKBIL1
Synonyms:	IKBL

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	381 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May be a negative regulator of NF-kappa-B activation.
Tissue specificity	Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.
Involvement in disease	Mutations in the promoter region of NFKBIL1 represent the second rheumatoid arthritis susceptibility locus within the HLA region [MIM:180300]. Ref.8
Sequence similarities	Contains 2 ANK repeats.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	ANK repeat Repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cytoplasmic sequestering of transcription factor Ref.1 Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CXorf56	Q9H5V9	1	EBI-1043728,EBI-1053419
GEMIN4	P57678	1	EBI-1043728,EBI-356700
LUC7L	Q9NQ29	1	EBI-1043728,EBI-473747
MRPL44	Q9H9J2	1	EBI-1043728,EBI-713619
MRPS18B	Q5STZ1	1	EBI-1043728,EBI-1050511
MRPS22	P82650	1	EBI-1043728,EBI-1050752
MRPS34	P82930	1	EBI-1043728,EBI-1048516
PNN	Q9H307	1	EBI-1043728,EBI-681904
RFXANK	O14593	1	EBI-1043728,EBI-1057665

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 381	381	NF-kappa-B inhibitor-like protein 1		PRO_0000067009
Regions
	Repeat	64 – 93	30	ANK 1
	Repeat	97 – 130	34	ANK 2
Amino acid modifications
	Modified residue	150	1	Phosphoserine Ref.9
Natural variations
	Natural variant	224	1	C → R Polymorphism found in the MHC 7.1 haplotype (HLA-A3,B7,DR15) population. dbSNP rs3130062. Ref.2 Ref.7		VAR_017798
Experimental info
	Sequence conflict	238 – 239	2	QQ → HE in CAA54867. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UBC1-1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: F466991A92A93F4C	FASTA	381	43,204
	10 20 30 40 50 60 MSNPSPQVPE EEASTSVCRP KSSMASTSRR QRRERRFRRY LSAGRLVRAQ ALLQRHPGLD 70 80 90 100 110 120 VDAGQPPPLH RACARHDAPA LCLLLRLGAD PAHQDRHGDT ALHAAARQGP DAYTDFFLPL 130 140 150 160 170 180 LSRCPSAMGI KNKDGETPGQ ILGWGPPWDS AEEEEEDDAS KEREWRQKLQ GELEDEWQEV 190 200 210 220 230 240 MGRFEGDASH ETQEPESFSA WSDRLAREHA QKCQQQQREA EGSCRPPRAE GSSQSWRQQE 250 260 270 280 290 300 EEQRLFRERA RAKEEELRES RARRAQEALG DREPKPTRAG PREEHPRGAG RGSLWRFGDV 310 320 330 340 350 360 PWPCPGGGDP EAMAAALVAR GPPLEEQGAL RRYLRVQQVR WHPDRFLQRF RSQIETWELG 370 380 RVMGAVTALS QALNRHAEAL K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins." Albertella M.R., Campbell D.R. Hum. Mol. Genet. 3:793-799(1994) [PubMed: 8081366] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Premonocytic leukemia.
[2]	"The central MHC gene IKBL carries a structural polymorphism that is associated with HLA-A3,B7,DR15." Allcock R.J.N., Christiansen F.T., Price P. Immunogenetics 49:660-665(1999) [PubMed: 10369924] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-224.
[3]	"A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC." Neville M.J., Campbell R.D. J. Immunol. 162:4745-4754(1999) [PubMed: 10202016] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region." Shiina S., Tamiya G., Oka A., Inoko H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions." Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Nucleotide sequencing analysis of the 146-kilobase segment around the IkBL and MICA genes at the centromeric end of the HLA class I region." Shiina T., Tamiya G., Oka A., Yamagata T., Yamagata N., Kikkawa E., Goto K., Mizuki N., Watanabe K., Fukuzumi Y., Taguchi S., Sugawara C., Ono A., Chen L., Yamazaki M., Tashiro H., Ando A., Ikemura T., Kimura M., Inoko H. Genomics 47:372-382(1998) [PubMed: 9480751] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[7]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-224.
[8]	"Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis." Okamoto K., Makino S., Yoshikawa Y., Takaki A., Nagatsuka Y., Ota M., Tamiya G., Kimura A., Bahram S., Inoko H. Am. J. Hum. Genet. 72:303-312(2003) [PubMed: 12509789] [Abstract] Cited for: DISEASE.
[9]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X77909 mRNA. Translation: CAA54867.1. AF097419 mRNA. Translation: AAD38108.1. AF097420 mRNA. Translation: AAD38109.1. AF097421 mRNA. Translation: AAD38110.1. AF097422 mRNA. Translation: AAD38111.1. AF097423 mRNA. Translation: AAD38112.1. AF097424 mRNA. Translation: AAD38113.1. AF097425 mRNA. Translation: AAD38114.1. AF097426 mRNA. Translation: AAD38115.1. AF097427 mRNA. Translation: AAD38116.1. AF097428 mRNA. Translation: AAD38117.1. AF097429 mRNA. Translation: AAD38118.1. Y14768 Genomic DNA. Translation: CAA75072.1. BA000025 Genomic DNA. Translation: BAB63398.1. AB088115 Genomic DNA. Translation: BAC54951.1. AB000876 Genomic DNA. No translation available. AB000882 Genomic DNA. No translation available. AL662801 Genomic DNA. Translation: CAI18289.1. AC004181 Genomic DNA. No translation available.
IPI	IPI00172482.
PIR	S60561.
RefSeq	NP_001138433.1. NP_001138434.1. NP_001138435.1. NP_004998.3.
UniGene	Hs.2764
3D structure databases
SMR	Q9UBC1. Positions 28-141.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UBC1. 12 interactions.
STRING	Q9UBC1.
PTM databases
PhosphoSite	Q9UBC1.
Proteomic databases
PRIDE	Q9UBC1.
Genome annotation databases
Ensembl	ENST00000400285; ENSP00000383142; ENSG00000206440; Homo sapiens. [Genome view] ENST00000419122; ENSP00000394486; ENSG00000234530; Homo sapiens. [Genome view] ENST00000424652; ENSP00000395544; ENSG00000236346; Homo sapiens. [Genome view] ENST00000432160; ENSP00000411611; ENSG00000227565; Homo sapiens. [Genome view] ENST00000442947; ENSP00000396656; ENSG00000235125; Homo sapiens. [Genome view] ENST00000455376; ENSP00000408426; ENSG00000236196; Homo sapiens. [Genome view]
GeneID	4795.
KEGG	hsa:4795.
UCSC	uc003nub.1. human.
Organism-specific databases
CTD	4795.
GeneCards	GC06P031623.
H-InvDB	HIX0032775. HIX0057734. HIX0058164.
HGNC	HGNC:7800. NFKBIL1.
HPA	HPA006298.
MIM	180300. phenotype. 601022. gene.
PharmGKB	PA31604.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9UBC1.
InParanoid	Q9UBC1.
Gene expression databases
CleanEx	HS_NFKBIL1.
Genevestigator	Q9UBC1.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
SMART	SM00248. ANK. 2 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	18480.
SOURCE	Search...

Entry information

Entry name

IKBL1_HUMAN

Accession

Primary (citable) accession number: Q9UBC1
Secondary accession number(s): Q14625, Q5STV5, Q9UBX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	May 1, 2000
Last modified:	January 19, 2010
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.