Q9UBC1 (IKBL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NF-kappa-B inhibitor-like protein 1

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

Gene names

Name:	NFKBIL1
Synonyms:	IKBL

Organism

Homo sapiens (Human)

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	Defects in NFKBIL1 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Ref.9
Sequence similarities	Contains 2 ANK repeats.
Sequence caution	The sequence BAG62473.1 differs from that shown. Reason: Erroneous termination at position 255. Translated as Glu.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cytoplasmic sequestering of transcription factor Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UBC1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UBC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

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.10
Natural variations
	Alternative sequence	1 – 23	23	Missing in isoform 2.		VSP_041075
	Natural variant	224	1	C → R Polymorphism found in the MHC 7.1 haplotype (HLA-A3,B7,DR15) population. Ref.3 Ref.8 Corresponds to variant rs3130062 [ dbSNP | Ensembl ].		VAR_017798
Experimental info
	Sequence conflict	48	1	R → Q in BAG62473. Ref.7
	Sequence conflict	238 – 239	2	QQ → HE in CAA54867. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 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
	Isoform 2 [UniParc]. Checksum: B2DF68E09AA28AA2	FASTA	358	40,774
	10 20 30 40 50 60 MASTSRRQRR ERRFRRYLSA GRLVRAQALL QRHPGLDVDA GQPPPLHRAC ARHDAPALCL 70 80 90 100 110 120 LLRLGADPAH QDRHGDTALH AAARQGPDAY TDFFLPLLSR CPSAMGIKNK DGETPGQILG 130 140 150 160 170 180 WGPPWDSAEE EEEDDASKER EWRQKLQGEL EDEWQEVMGR FEGDASHETQ EPESFSAWSD 190 200 210 220 230 240 RLAREHAQKC QQQQREAEGS CRPPRAEGSS QSWRQQEEEQ RLFRERARAK EEELRESRAR 250 260 270 280 290 300 RAQEALGDRE PKPTRAGPRE EHPRGAGRGS LWRFGDVPWP CPGGGDPEAM AAALVARGPP 310 320 330 340 350 LEEQGALRRY LRVQQVRWHP DRFLQRFRSQ IETWELGRVM GAVTALSQAL NRHAEALK

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] (ISOFORM 1). Tissue: Premonocytic leukemia.
[2]	"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].
[3]	"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] (ISOFORM 1), VARIANT ARG-224.
[4]	"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].
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[6]	"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].
[7]	"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].
[8]	"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.
[9]	"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.
[10]	"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. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X77909 mRNA. Translation: CAA54867.1. AB000876 Genomic DNA. No translation available. AB000882 Genomic DNA. No translation available. 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. AK300818 mRNA. Translation: BAG62473.1. Sequence problems. BA000025 Genomic DNA. Translation: BAB63398.1. AB088115 Genomic DNA. Translation: BAC54951.1. AL662801 Genomic DNA. Translation: CAI18289.1. AC004181 Genomic DNA. No translation available.
IPI	IPI00172482. IPI00853446.
PIR	S60561.
RefSeq	NP_001138433.1. NM_001144961.1. NP_001138434.1. NM_001144962.1. NP_001138435.1. NM_001144963.1. NP_004998.3. NM_005007.3.
UniGene	Hs.2764.
3D structure databases
ProteinModelPortal	Q9UBC1.
SMR	Q9UBC1. Positions 29-147.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UBC1. 4 interactions.
PTM databases
PhosphoSite	Q9UBC1.
Polymorphism databases
DMDM	44888077.
Proteomic databases
PRIDE	Q9UBC1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000400285; ENSP00000383142; ENSG00000206440. ENST00000419122; ENSP00000394486; ENSG00000234530. ENST00000424652; ENSP00000395544; ENSG00000236346. ENST00000432160; ENSP00000411611; ENSG00000227565. ENST00000442947; ENSP00000396656; ENSG00000235125. ENST00000455376; ENSP00000408426; ENSG00000236196.
GeneID	4795.
KEGG	hsa:4795.
UCSC	uc003nub.1. human.
Organism-specific databases
CTD	4795.
GeneCards	GC06P031514.
HGNC	HGNC:7800. NFKBIL1.
HPA	HPA006298.
MIM	180300. phenotype. 601022. gene.
neXtProt	NX_Q9UBC1.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG048799.
InParanoid	Q9UBC1.
OrthoDB	EOG4RV2S4.
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.
KO	K09256.
Pfam	PF12796. Ank_2. 1 hit. [Graphical view]
SMART	SM00248. ANK. 2 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	18480.
SOURCE	Search...

Entry information

Entry name

IKBL1_HUMAN

Accession

Primary (citable) accession number: Q9UBC1
Secondary accession number(s): B4DUW1 , Q14625, Q5STV5, Q9UBX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.