ENSMUSG00000002748


Mus musculus

Features
Gene ID: ENSMUSG00000002748
  
Biological name :Baz1b
  
Synonyms : Baz1b / Q9Z277 / Tyrosine-protein kinase BAZ1B
  
Possible biological names infered from orthology : bromodomain adjacent to zinc finger domain 1B / Q9UIG0
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: G2
Gene start: 135187264
Gene end: 135246129
  
Corresponding Affymetrix probe sets: 10526319 (MoGene1.0st)   1420975_at (Mouse Genome 430 2.0 Array)   1434824_at (Mouse Genome 430 2.0 Array)   1440805_at (Mouse Genome 430 2.0 Array)   1450068_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000002825
NCBI entrez gene - 22385     See in Manteia.
MGI - MGI:1353499
RefSeq - NM_011714
RefSeq - XM_011240880
RefSeq Peptide - NP_035844
swissprot - Q9Z277
Ensembl - ENSMUSG00000002748
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 baz1bENSDARG00000102832Danio rerio
 BAZ1BENSGALG00000029408Gallus gallus
 BAZ1BENSG00000009954Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Baz2b / bromodomain adjacent to zinc finger domain, 2B / Q9UIF8*ENSMUSG0000002698719
Baz2a / bromodomain adjacent to zinc finger domain 2A / Q9UIF9*ENSMUSG0000004005419
Baz1a / O88379 / Bromodomain adjacent to zinc finger domain protein 1A / Q9NRL2* / bromodomain adjacent to zinc finger domain 1A*ENSMUSG0000003502118
Ep300 / B2RWS6 / Histone acetyltransferase p300 / Q09472* / E1A binding protein p300*ENSMUSG000000550247
Crebbp / CREB binding protein / Q92793*ENSMUSG000000225217
Brd4 / Q9ESU6 / Bromodomain-containing protein 4 / O60885* / bromodomain containing 4*ENSMUSG000000240027
Brdt / Q91Y44 / Bromodomain testis-specific protein / Q58F21* / bromodomain testis associated*ENSMUSG000000292796
Brd2 / Q7JJ13 / Bromodomain-containing protein 2 / P25440* / bromodomain containing 2*ENSMUSG000000243355
Brd3 / Q8K2F0 / Bromodomain-containing protein 3 / Q15059* / bromodomain containing 3*ENSMUSG000000269185


Protein motifs (from Interpro)
Interpro ID Name
 IPR001487  Bromodomain
 IPR001841  Zinc finger, RING-type
 IPR001965  Zinc finger, PHD-type
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR011989  Armadillo-like helical
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR013136  WSTF/Acf1/Cbp146
 IPR018359  Bromodomain, conserved site
 IPR018501  DDT domain
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR019787  Zinc finger, PHD-finger
 IPR028941  WHIM2 domain
 IPR028942  WHIM1 domain
 IPR036427  Bromodomain-like superfamily
 IPR037375  Tyrosine-protein kinase BAZ1B, bromodomain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006333 chromatin assembly or disassembly IDA
 biological_processGO:0006338 chromatin remodeling NAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016572 histone phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 cellular_componentGO:0000793 condensed chromosome IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005721 pericentric heterochromatin IDA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0043596 nuclear replication fork IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity ISO
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0035173 histone kinase activity IEA
 molecular_functionGO:0042393 histone binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
B-WICH complex positively regulates rRNA expression
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Robo2tm1Rilm/Robo2tm1Rilm,Olfr160tm4Mom/?,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129 * 129P2/OlaHsd * 129S1/Sv

 MP:0000194 hypercalcemia "abnormally high concentration of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Robo2tm1Rilm/Robo2tm1Rilm,Olfr160tm4Mom/?,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129 * 129P2/OlaHsd * 129S1/Sv

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0002189 abnormal myocardial trabeculae morphology "malformation of the supporting bundles of muscular fibers lining the walls of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0002753 dilated left ventricle "an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0003387 coarctation of aorta "narrowing of the aorta" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0004418 small parietal bone "reduced size of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

Allelic Composition: Baz1bMommeD10/Baz1b+
Genetic Background: involves: FVB/N

 MP:0004471 short nasal bone "reduced length of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

Allelic Composition: Baz1bMommeD10/Baz1b+
Genetic Background: involves: FVB/N

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Robo2tm1Rilm/Robo2tm1Rilm,Olfr160tm4Mom/?,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129 * 129P2/OlaHsd * 129S1/Sv

 MP:0005249 abnormal palatine bone morphology "structural anomaly of the anteriorly located rigid section of the palate" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

Allelic Composition: Baz1bMommeD10/Baz1b+
Genetic Background: involves: FVB/N

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Robo2tm1Rilm/Robo2tm1Rilm,Olfr160tm4Mom/?,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129 * 129P2/OlaHsd * 129S1/Sv

 MP:0005567 decreased circulating total protein level "less than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]
Show

Allelic Composition: Robo2tm1Rilm/Robo2tm1Rilm,Olfr160tm4Mom/?,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129 * 129P2/OlaHsd * 129S1/Sv

 MP:0006411 upturned snout "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

Allelic Composition: Baz1btm1Ska/Baz1b+
Genetic Background: involves: C57BL/6 * CBA

 MP:0010563 increased heart right ventricle size "greater than average size of the right ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0010579 increased heart left ventricle size "greater than average size of the left ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0013270 fourth pharyngeal arch hypoplasia "underdevelopment or reduced size of the fourth pharyngeal arch, usually due to reduced cell number" [MGI:anna]
Show

Allelic Composition: Nlrp3tm1Wstr/Nlrp3+
Genetic Background: involves: C57BL/6

 MP:0030049 prominent forehead "forward prominence of the entire forehead, due to protrusion of the frontal bone; not to be confused with frontal bossing" [HP:0011220]
Show

Allelic Composition: Gfi1btm1Tmo/Gfi1btm1Tmo
Genetic Background: B6.129-Gfi1btm1Tmo

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction
 ENSMUSG00000049932 H2afx / P27661 / Histone H2AX / P16104* / H2A histone family member X*  / reaction
 ENSMUSG00000031715 Q91ZW3 / Smarca5 / SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 / O60264*  / complex






 

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