Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Inhibitor of Bruton tyrosine kinase

Gene

IBTK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription.1 Publication

GO - Molecular functioni

  • protein kinase binding Source: MGI
  • protein tyrosine kinase inhibitor activity Source: MGI

GO - Biological processi

  • negative regulation of protein phosphorylation Source: MGI
  • release of sequestered calcium ion into cytosol Source: MGI
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005700-MONOMER.
SIGNORiQ9P2D0.

Names & Taxonomyi

Protein namesi
Recommended name:
Inhibitor of Bruton tyrosine kinase
Short name:
IBtk
Gene namesi
Name:IBTK
Synonyms:BTKI, KIAA1417
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17853. IBTK.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • membrane Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi25998.
OpenTargetsiENSG00000005700.
ENSG00000283068.
PharmGKBiPA134898277.

Polymorphism and mutation databases

BioMutaiIBTK.
DMDMi134034141.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802761 – 1353Inhibitor of Bruton tyrosine kinaseAdd BLAST1353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei990PhosphoserineCombined sources1
Modified residuei1004PhosphoserineCombined sources1
Modified residuei1030PhosphoserineCombined sources1
Modified residuei1033PhosphoserineCombined sources1
Modified residuei1039PhosphoserineCombined sources1
Modified residuei1045PhosphoserineCombined sources1
Modified residuei1054PhosphoserineCombined sources1
Modified residuei1083PhosphoserineCombined sources1
Modified residuei1111PhosphoserineBy similarity1
Modified residuei1113PhosphoserineCombined sources1
Modified residuei1116PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P2D0.
MaxQBiQ9P2D0.
PaxDbiQ9P2D0.
PeptideAtlasiQ9P2D0.
PRIDEiQ9P2D0.

PTM databases

iPTMnetiQ9P2D0.
PhosphoSitePlusiQ9P2D0.

Expressioni

Tissue specificityi

Expressed in DeFew, HEK293T, HeLa and in Jurkat, MC3 and NB4 lymphoid cells (at protein level). Isoform 1 is the predominant isoform expressed in all examined tissues and cell lines. Highly expressed in hemopoietic tissues (fetal liver, spleen, lymph node, thymus, peripheral blood leukocytes and bone marrow). Weakly or not expressed in other tissues.2 Publications

Gene expression databases

BgeeiENSG00000005700.
ExpressionAtlasiQ9P2D0. baseline and differential.
GenevisibleiQ9P2D0. HS.

Organism-specific databases

HPAiHPA023826.
HPA048438.

Interactioni

Subunit structurei

Interacts with the PH domain of BTK. Isoform 2 does not interact with BTK.2 Publications

GO - Molecular functioni

  • protein kinase binding Source: MGI

Protein-protein interaction databases

BioGridi117474. 78 interactors.
IntActiQ9P2D0. 43 interactors.
MINTiMINT-215747.
STRINGi9606.ENSP00000305721.

Structurei

3D structure databases

ProteinModelPortaliQ9P2D0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati51 – 80ANK 1Add BLAST30
Repeati85 – 114ANK 2Add BLAST30
Repeati141 – 194RCC1 1Add BLAST54
Repeati195 – 246RCC1 2Add BLAST52
Repeati248 – 301RCC1 3Add BLAST54
Domaini564 – 644BTB 1PROSITE-ProRule annotationAdd BLAST81
Domaini768 – 836BTB 2PROSITE-ProRule annotationAdd BLAST69
Repeati806 – 835ANK 3Add BLAST30

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation
Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation
Contains 3 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0783. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00860000133788.
HOVERGENiHBG081779.
InParanoidiQ9P2D0.
OMAiVSALHHK.
OrthoDBiEOG091G00N0.
PhylomeDBiQ9P2D0.
TreeFamiTF323747.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
2.130.10.30. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00651. BTB. 2 hits.
PF00415. RCC1. 3 hits.
[Graphical view]
SMARTiSM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50097. BTB. 2 hits.
PS50012. RCC1_3. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P2D0-1) [UniParc]FASTAAdd to basket
Also known as: IBtk-alpha

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.

« Hide

        10         20         30         40         50
MSSPMPDCTS KCRSLKHALD VLSVVTKGSE NQIKAFLSSH CYNAATIKDV
60 70 80 90 100
FGRNALHLVS SCGKKGVLDW LIQKGVDLLV KDKESGWTAL HRSIFYGHID
110 120 130 140 150
CVWSLLKHGV SLYIQDKEGL SALDLVMKDR PTHVVFKNTD PTDVYTWGDN
160 170 180 190 200
TNFTLGHGSQ NSKHHPELVD LFSRSGIYIK QVVLCKFHSV FLSQKGQVYT
210 220 230 240 250
CGHGPGGRLG HGDEQTCLVP RLVEGLNGHN CSQVAAAKDH TVVLTEDGCV
260 270 280 290 300
YTFGLNIFHQ LGIIPPPSSC NVPRQIQAKY LKGRTIIGVA AGRFHTVLWT
310 320 330 340 350
REAVYTMGLN GGQLGCLLDP NGEKCVTAPR QVSALHHKDI ALSLVAASDG
360 370 380 390 400
ATVCVTTRGD IYLLADYQCK KMASKQLNLK KVLVSGGHME YKVDPEHLKE
410 420 430 440 450
NGGQKICILA MDGAGRVFCW RSVNSSLKQC RWAYPRQVFI SDIALNRNEI
460 470 480 490 500
LFVTQDGEGF RGRWFEEKRK SSEKKEILSN LHNSSSDVSY VSDINSVYER
510 520 530 540 550
IRLEKLTFAH RAVSVSTDPS GCNFAILQSD PKTSLYEIPA VSSSSFFEEF
560 570 580 590 600
GKLLREADEM DSIHDVTFQV GNRLFPAHKY ILAVHSDFFQ KLFLSDGNTS
610 620 630 640 650
EFTDIYQKDE DSAGCHLFVV EKVHPDMFEY LLQFIYTDTC DFLTHGFKPR
660 670 680 690 700
IHLNKNPEEY QGTLNSHLNK VNFHEDDNQK SAFEVYKSNQ AQTVSERQKS
710 720 730 740 750
KPKSCKKGKN IREDDPVRML QTVAKKFDFS NLSSRLDGVR FENEKINVIA
760 770 780 790 800
KNTGNKLKLS QKKCSFLCDV TMKSVDGKEF PCHKCVLCAR LEYFHSMLSS
810 820 830 840 850
SWIEASSCAA LEMPIHSDIL KVILDYLYTD EAVVIKESQN VDFICSVLVV
860 870 880 890 900
ADQLLITRLK EICEVALTEK LTLKNAAMLL EFAAMYSAKQ LKLSCLQFIG
910 920 930 940 950
LNMAALLEAR SLDVLSDGVL KDLSEFYRKM IPAMDRRVIT PYQDGPDISY
960 970 980 990 1000
LEVEDGDIFL KEEINMEQNH SETMFKKAKT KAKKKPRKRS DSSGGYNLSD
1010 1020 1030 1040 1050
IIQSPSSTGL LKSGKTNSVE SLPELLTSDS EGSYAGVGSP RDLQSPDFTT
1060 1070 1080 1090 1100
GFHSDKIEAK VKPYVNGTSP VYSREDLKPW EKSPILKISA PQPIPSNRID
1110 1120 1130 1140 1150
TTSSASWVAG SFSPVSPPVV DLRTIMEIEE SRQKCGATPK SHLGKTVSHG
1160 1170 1180 1190 1200
VKLSQKQRKM IALTTKENNS GMNSMETVLF TPSKAPKPVN AWASSLHSVS
1210 1220 1230 1240 1250
SKSFRDFLLE EKKSVTSHSS GDHVKKVSFK GIENSQAPKI VRCSTHGTPG
1260 1270 1280 1290 1300
PEGNHISDLP LLDSPNPWLS SSVTAPSMVA PVTFASIVEE ELQQEAALIR
1310 1320 1330 1340 1350
SREKPLALIQ IEEHAIQDLL VFYEAFGNPE EFVIVERTPQ GPLAVPMWNK

HGC
Length:1,353
Mass (Da):150,528
Last modified:March 20, 2007 - v3
Checksum:i67B2D11E276A6AF1
GO
Isoform 2 (identifier: Q9P2D0-2) [UniParc]FASTAAdd to basket
Also known as: IBtk-beta

The sequence of this isoform differs from the canonical sequence as follows:
     1145-1196: KTVSHGVKLS...KPVNAWASSL → WVENITKDHF...GQFSLHNIIS
     1197-1353: Missing.

Note: Due to a partial intron retention.
Show »
Length:1,196
Mass (Da):133,859
Checksum:i7AEB0AF9F4B92805
GO
Isoform 3 (identifier: Q9P2D0-3) [UniParc]FASTAAdd to basket
Also known as: IBtk-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-1113: Missing.
     1114-1144: PVSPPVVDLRTIMEIEESRQKCGATPKSHLG → MLIDIISSKMISHGIKLCQKKPLKLIGLISS

Note: Due to a partial intron retention.
Show »
Length:240
Mass (Da):26,314
Checksum:i55673D0FC6EE3FEB
GO

Sequence cautioni

The sequence AAG27170 differs from that shown. Aberrant splicing.Curated
The sequence BAA92655 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI23414 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI23416 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti971S → G in CAB43239 (PubMed:17974005).Curated1
Sequence conflicti1197H → R in CAB43239 (PubMed:17974005).Curated1
Sequence conflicti1218H → L in CAB43239 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0311061065V → I.Corresponds to variant rs12662902dbSNPEnsembl.1
Natural variantiVAR_0311071185A → V.2 PublicationsCorresponds to variant rs9449444dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0236001 – 1113Missing in isoform 3. 1 PublicationAdd BLAST1113
Alternative sequenceiVSP_0236011114 – 1144PVSPP…KSHLG → MLIDIISSKMISHGIKLCQK KPLKLIGLISS in isoform 3. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0236021145 – 1196KTVSH…WASSL → WVENITKDHFMLYFCPKNWT DLLHLSYYFSAFDVIVNYTS FSGQFSLHNIIS in isoform 2. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_0236041197 – 1353Missing in isoform 2. 1 PublicationAdd BLAST157

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ005633 mRNA. Translation: AAY55906.1.
DQ005634 mRNA. Translation: AAY55907.1.
DQ005635 mRNA. Translation: AAY55908.1.
AB037838 mRNA. Translation: BAA92655.2. Different initiation.
AL050333 Genomic DNA. Translation: CAI23414.1. Sequence problems.
AL050333 Genomic DNA. Translation: CAI23416.1. Sequence problems.
BC027490 mRNA. Translation: AAH27490.1.
BC038244 mRNA. Translation: AAH38244.2.
BC042171 mRNA. Translation: AAH42171.2.
BC113696 mRNA. Translation: AAI13697.1.
BC113698 mRNA. Translation: AAI13699.1.
AL050018 mRNA. Translation: CAB43239.1.
AF235049 mRNA. Translation: AAG27170.1. Sequence problems.
CCDSiCCDS34490.1. [Q9P2D0-1]
PIRiT08705.
RefSeqiNP_001287835.1. NM_001300906.1.
NP_056340.2. NM_015525.3. [Q9P2D0-1]
UniGeneiHs.306425.

Genome annotation databases

EnsembliENST00000306270; ENSP00000305721; ENSG00000005700. [Q9P2D0-1]
ENST00000635454; ENSP00000489389; ENSG00000283068. [Q9P2D0-1]
GeneIDi25998.
KEGGihsa:25998.
UCSCiuc003pjl.2. human. [Q9P2D0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ005633 mRNA. Translation: AAY55906.1.
DQ005634 mRNA. Translation: AAY55907.1.
DQ005635 mRNA. Translation: AAY55908.1.
AB037838 mRNA. Translation: BAA92655.2. Different initiation.
AL050333 Genomic DNA. Translation: CAI23414.1. Sequence problems.
AL050333 Genomic DNA. Translation: CAI23416.1. Sequence problems.
BC027490 mRNA. Translation: AAH27490.1.
BC038244 mRNA. Translation: AAH38244.2.
BC042171 mRNA. Translation: AAH42171.2.
BC113696 mRNA. Translation: AAI13697.1.
BC113698 mRNA. Translation: AAI13699.1.
AL050018 mRNA. Translation: CAB43239.1.
AF235049 mRNA. Translation: AAG27170.1. Sequence problems.
CCDSiCCDS34490.1. [Q9P2D0-1]
PIRiT08705.
RefSeqiNP_001287835.1. NM_001300906.1.
NP_056340.2. NM_015525.3. [Q9P2D0-1]
UniGeneiHs.306425.

3D structure databases

ProteinModelPortaliQ9P2D0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117474. 78 interactors.
IntActiQ9P2D0. 43 interactors.
MINTiMINT-215747.
STRINGi9606.ENSP00000305721.

PTM databases

iPTMnetiQ9P2D0.
PhosphoSitePlusiQ9P2D0.

Polymorphism and mutation databases

BioMutaiIBTK.
DMDMi134034141.

Proteomic databases

EPDiQ9P2D0.
MaxQBiQ9P2D0.
PaxDbiQ9P2D0.
PeptideAtlasiQ9P2D0.
PRIDEiQ9P2D0.

Protocols and materials databases

DNASUi25998.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306270; ENSP00000305721; ENSG00000005700. [Q9P2D0-1]
ENST00000635454; ENSP00000489389; ENSG00000283068. [Q9P2D0-1]
GeneIDi25998.
KEGGihsa:25998.
UCSCiuc003pjl.2. human. [Q9P2D0-1]

Organism-specific databases

CTDi25998.
DisGeNETi25998.
GeneCardsiIBTK.
HGNCiHGNC:17853. IBTK.
HPAiHPA023826.
HPA048438.
MIMi606457. gene.
neXtProtiNX_Q9P2D0.
OpenTargetsiENSG00000005700.
ENSG00000283068.
PharmGKBiPA134898277.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0783. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00860000133788.
HOVERGENiHBG081779.
InParanoidiQ9P2D0.
OMAiVSALHHK.
OrthoDBiEOG091G00N0.
PhylomeDBiQ9P2D0.
TreeFamiTF323747.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005700-MONOMER.
SIGNORiQ9P2D0.

Miscellaneous databases

ChiTaRSiIBTK. human.
GenomeRNAii25998.
PROiQ9P2D0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005700.
ExpressionAtlasiQ9P2D0. baseline and differential.
GenevisibleiQ9P2D0. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
2.130.10.30. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00651. BTB. 2 hits.
PF00415. RCC1. 3 hits.
[Graphical view]
SMARTiSM00248. ANK. 2 hits.
SM00225. BTB. 2 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50097. BTB. 2 hits.
PS50012. RCC1_3. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIBTK_HUMAN
AccessioniPrimary (citable) accession number: Q9P2D0
Secondary accession number(s): Q2QKU2
, Q2QKU3, Q2QKU4, Q5TFD7, Q5TFD9, Q8IUQ9, Q8IUY7, Q8TAI4, Q9HBI8, Q9Y3T8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 30, 2016
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.