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Entry version 150 (08 May 2019)
Sequence version 3 (20 Mar 2007)
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Protein

Inhibitor of Bruton tyrosine kinase

Gene

IBTK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9P2D0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inhibitor of Bruton tyrosine kinase
Short name:
IBtk
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IBTK
Synonyms:BTKI, KIAA1417
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17853 IBTK

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606457 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2D0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
25998

Open Targets

More...
OpenTargetsi
ENSG00000005700

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134898277

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IBTK

Domain mapping of disease mutations (DMDM)

More...
DMDMi
134034141

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002802761 – 1353Inhibitor of Bruton tyrosine kinaseAdd BLAST1353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P2D0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P2D0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9P2D0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P2D0

PeptideAtlas

More...
PeptideAtlasi
Q9P2D0

PRoteomics IDEntifications database

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PRIDEi
Q9P2D0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83770
83771 [Q9P2D0-2]
83772 [Q9P2D0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P2D0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9P2D0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000005700 Expressed in 244 organ(s), highest expression level in saliva-secreting gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P2D0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P2D0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023826
HPA048438

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117474, 84 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P2D0, 43 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000305721

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati51 – 80ANK 1Add BLAST30
Repeati85 – 114ANK 2Add BLAST30
Repeati141 – 194RCC1 1Add BLAST54
Repeati195 – 246RCC1 2Add BLAST52
Repeati248 – 301RCC1 3Add BLAST54
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini564 – 644BTB 1PROSITE-ProRule annotationAdd BLAST81
Domaini768 – 836BTB 2PROSITE-ProRule annotationAdd BLAST69
Repeati806 – 835ANK 3Add BLAST30

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0783 Eukaryota
COG5184 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156277

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9P2D0

Identification of Orthologs from Complete Genome Data

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OMAi
FCWRSVS

Database of Orthologous Groups

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OrthoDBi
94875at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P2D0

TreeFam database of animal gene trees

More...
TreeFami
TF323747

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00204 ANK, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 1 hit
2.130.10.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR011333 SKP1/BTB/POZ_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 1 hit
PF00651 BTB, 2 hits
PF00415 RCC1, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 2 hits
SM00225 BTB, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 1 hit
SSF50985 SSF50985, 1 hit
SSF54695 SSF54695, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits
PS50097 BTB, 2 hits
PS50012 RCC1_3, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EPI0E7EPI0_HUMAN
Inhibitor of Bruton tyrosine kinase
IBTK
1,338Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PDR5E9PDR5_HUMAN
Inhibitor of Bruton tyrosine kinase
IBTK
1,152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R9F4D6R9F4_HUMAN
Inhibitor of Bruton tyrosine kinase
IBTK
238Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9N7H0Y9N7_HUMAN
Inhibitor of Bruton tyrosine kinase
IBTK
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG27170 differs from that shown. Aberrant splicing.Curated
The sequence BAA92655 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0311061065V → I. Corresponds to variant dbSNP:rs12662902Ensembl.1
Natural variantiVAR_0311071185A → V2 PublicationsCorresponds to variant dbSNP:rs9449444Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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 No translation available.
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS34490.1 [Q9P2D0-1]

Protein sequence database of the Protein Information Resource

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PIRi
T08705

NCBI Reference Sequences

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RefSeqi
NP_001287835.1, NM_001300906.1
NP_056340.2, NM_015525.3 [Q9P2D0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000306270; ENSP00000305721; ENSG00000005700 [Q9P2D0-1]
ENST00000635454; ENSP00000489389; ENSG00000283068 [Q9P2D0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
25998

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:25998

UCSC genome browser

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UCSCi
uc003pjl.2 human [Q9P2D0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 No translation available.
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117474, 84 interactors
IntActiQ9P2D0, 43 interactors
STRINGi9606.ENSP00000305721

PTM databases

iPTMnetiQ9P2D0
PhosphoSitePlusiQ9P2D0

Polymorphism and mutation databases

BioMutaiIBTK
DMDMi134034141

Proteomic databases

EPDiQ9P2D0
jPOSTiQ9P2D0
MaxQBiQ9P2D0
PaxDbiQ9P2D0
PeptideAtlasiQ9P2D0
PRIDEiQ9P2D0
ProteomicsDBi83770
83771 [Q9P2D0-2]
83772 [Q9P2D0-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
25998
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

Comparative Toxicogenomics Database

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CTDi
25998
DisGeNETi25998

GeneCards: human genes, protein and diseases

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GeneCardsi
IBTK
HGNCiHGNC:17853 IBTK
HPAiHPA023826
HPA048438
MIMi606457 gene
neXtProtiNX_Q9P2D0
OpenTargetsiENSG00000005700
PharmGKBiPA134898277

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0783 Eukaryota
COG5184 LUCA
GeneTreeiENSGT00940000156277
InParanoidiQ9P2D0
OMAiFCWRSVS
OrthoDBi94875at2759
PhylomeDBiQ9P2D0
TreeFamiTF323747

Enzyme and pathway databases

SIGNORiQ9P2D0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IBTK human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
25998

Protein Ontology

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PROi
PR:Q9P2D0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000005700 Expressed in 244 organ(s), highest expression level in saliva-secreting gland
ExpressionAtlasiQ9P2D0 baseline and differential
GenevisibleiQ9P2D0 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
2.130.10.30, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00651 BTB, 2 hits
PF00415 RCC1, 3 hits
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SM00225 BTB, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
SSF50985 SSF50985, 1 hit
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits
PS50097 BTB, 2 hits
PS50012 RCC1_3, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIBTK_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P2D0
Secondary accession number(s): Q2QKU2
, Q2QKU3, Q2QKU4, Q5TFD7, Q5TFD9, Q8IUQ9, Q8IUY7, Q8TAI4, Q9HBI8, Q9Y3T8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: May 8, 2019
This is version 150 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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