BAZ1B
Tyrosine-protein kinase BAZ1B
Also known as: BAZ1B_HUMAN, WBSCR10, WBSCR9, WSTF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UIG0
- Gene
- BAZ1B
- Ensembl
- ENSG00000009954
- Chromosome
- 7
- Canonical length
- 1483 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1483 residues, UniProt reviewed canonical sequence.
>Q9UIG0|BAZ1B
1 MAPLLGRKPF PLVKPLPGEE PLFTIPHTQE AFRTREEYEA RLERYSERIW TCKSTGSSQL
61 THKEAWEEEQ EVAELLKEEF PAWYEKLVLE MVHHNTASLE KLVDTAWLEI MTKYAVGEEC
121 DFEVGKEKML KVKIVKIHPL EKVDEEATEK KSDGACDSPS SDKENSSQIA QDHQKKETVV
181 KEDEGRRESI NDRARRSPRK LPTSLKKGER KWAPPKFLPH KYDVKLQNED KIISNVPADS
241 LIRTERPPNK EIVRYFIRHN ALRAGTGENA PWVVEDELVK KYSLPSKFSD FLLDPYKYMT
301 LNPSTKRKNT GSPDRKPSKK SKTDNSSLSS PLNPKLWCHV HLKKSLSGSP LKVKNSKNSK
361 SPEEHLEEMM KMMSPNKLHT NFHIPKKGPP AKKPGKHSDK PLKAKGRSKG ILNGQKSTGN
421 SKSPKKGLKT PKTKMKQMTL LDMAKGTQKM TRAPRNSGGT PRTSSKPHKH LPPAALHLIA
481 YYKENKDRED KRSALSCVIS KTARLLSSED RARLPEELRS LVQKRYELLE HKKRWASMSE
541 EQRKEYLKKK REELKKKLKE KAKERREKEM LERLEKQKRY EDQELTGKNL PAFRLVDTPE
601 GLPNTLFGDV AMVVEFLSCY SGLLLPDAQY PITAVSLMEA LSADKGGFLY LNRVLVILLQ
661 TLLQDEIAED YGELGMKLSE IPLTLHSVSE LVRLCLRRSD VQEESEGSDT DDNKDSAAFE
721 DNEVQDEFLE KLETSEFFEL TSEEKLQILT ALCHRILMTY SVQDHMETRQ QMSAELWKER
781 LAVLKEENDK KRAEKQKRKE MEAKNKENGK VENGLGKTDR KKEIVKFEPQ VDTEAEDMIS
841 AVKSRRLLAI QAKKEREIQE REMKVKLERQ AEEERIRKHK AAAEKAFQEG IAKAKLVMRR
901 TPIGTDRNHN RYWLFSDEVP GLFIEKGWVH DSIDYRFNHH CKDHTVSGDE DYCPRSKKAN
961 LGKNASMNTQ HGTATEVAVE TTTPKQGQNL WFLCDSQKEL DELLNCLHPQ GIRESQLKER
1021 LEKRYQDIIH SIHLARKPNL GLKSCDGNQE LLNFLRSDLI EVATRLQKGG LGYVEETSEF
1081 EARVISLEKL KDFGECVIAL QASVIKKFLQ GFMAPKQKRR KLQSEDSAKT EEVDEEKKMV
1141 EEAKVASALE KWKTAIREAQ TFSRMHVLLG MLDACIKWDM SAENARCKVC RKKGEDDKLI
1201 LCDECNKAFH LFCLRPALYE VPDGEWQCPA CQPATARRNS RGRNYTEESA SEDSEDDESD
1261 EEEEEEEEEE EEEDYEVAGL RLRPRKTIRG KHSVIPPAAR SGRRPGKKPH STRRSQPKAP
1321 PVDDAEVDEL VLQTKRSSRR QSLELQKCEE ILHKIVKYRF SWPFREPVTR DEAEDYYDVI
1381 THPMDFQTVQ NKCSCGSYRS VQEFLTDMKQ VFTNAEVYNC RGSHVLSCMV KTEQCLVALL
1441 HKHLPGHPYV RRKRKKFPDR LAEDEGDSEP EAVGQSRGRR QKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BAZ1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- thymus: 38 nTPM
- tongue: 29 nTPM
- tonsil: 28 nTPM
- retina: 26 nTPM
- skeletal muscle: 26 nTPM
- lymph node: 26 nTPM
Single-cell type
- erythrocyte progenitors: 205 nCPM
- differentiating spermatogonia: 200 nCPM
- monocyte progenitors: 191 nCPM
- myonuclei: 145 nCPM
- megakaryocyte progenitors: 144 nCPM
- neutrophil progenitors: 139 nCPM
Immune cell
- basophil: 4.1 nTPM
- plasmacytoid DC: 3.1 nTPM
- gdT-cell: 3 nTPM
- NK-cell: 2.8 nTPM
- MAIT T-cell: 2.6 nTPM
- naive B-cell: 2.5 nTPM
Brain region
- white matter: 58 nTPM
- cerebellum: 58 nTPM
- basal ganglia: 56 nTPM
- hypothalamus: 54 nTPM
- midbrain: 54 nTPM
- thalamus: 53 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.72
- DepMap mean gene effect
- -0.33
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- DNA damage response
- negative regulation of mitotic chromosome condensation
- positive regulation of transcription by RNA polymerase I
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription by RNA polymerase III
- post-translational protein modification
- regulation of transcription by RNA polymerase II
Molecular functions
- ATP binding
- histone binding
- histone kinase activity
- non-membrane spanning protein tyrosine kinase activity
- zinc ion binding
- histone H2AXY142 kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Bromodomain
- Zinc finger, RING-type
- Zinc finger, PHD-type
- Zinc finger, FYVE/PHD-type
- Zinc finger, RING/FYVE/PHD-type
- WSTF/Acf1/Cbp146
- Bromodomain, conserved site
- DDT domain
- Zinc finger, PHD-type, conserved site
- Zinc finger, PHD-finger
- WHIM2 domain
- WHIM1 domain
- Bromodomain-like superfamily
- Bromodomain
- PHD-finger
- ATP-utilising chromatin assembly and remodelling N-terminal
- WSTF, HB1, Itc1p, MBD9 motif 1
- Williams-Beuren syndrome DDT (WSD), D-TOX E motif
- Tyrosine-protein kinase BAZ1B, bromodomain
- Tyrosine-protein kinase BAZ1B
- Tyrosine-protein kinase BAZ1B, PHD finger
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BAZ1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BAZ1B as an antibody target. Whether an autoantibody or antibody against BAZ1B could matter depends on whether native BAZ1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BAZ1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BAZ1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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