ENSMUSG00000050567


Mus musculus

Features
Gene ID: ENSMUSG00000050567
  
Biological name :Maml1
  
Synonyms : Maml1 / Mastermind-like protein 1 / Q6T264
  
Possible biological names infered from orthology : mastermind like transcriptional coactivator 1 / Q92585
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B1.3
Gene start: 50255634
Gene end: 50292311
  
Corresponding Affymetrix probe sets: 10385591 (MoGene1.0st)   1426769_s_at (Mouse Genome 430 2.0 Array)   1441697_at (Mouse Genome 430 2.0 Array)   1452188_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000059210
Ensembl peptide - ENSMUSP00000118188
NCBI entrez gene - 103806     See in Manteia.
MGI - MGI:1890504
RefSeq - NM_175334
RefSeq - XM_006531918
RefSeq Peptide - NP_780543
swissprot - F6UY95
swissprot - Q6T264
Ensembl - ENSMUSG00000050567
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 maml1ENSDARG00000076466Danio rerio
 MAML1ENSGALG00000005929Gallus gallus
 MAML1ENSG00000161021Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Maml3 / mastermind like transcriptional coactivator 3 / Q96JK9*ENSMUSG0000006114331
Maml2 / mastermind-like protein 2 isoform 1 / Q8IZL2* / mastermind like transcriptional coactivator 2*ENSMUSG000000319259


Protein motifs (from Interpro)
Interpro ID Name
 IPR019082  Neurogenic mastermind-like, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007219 Notch signaling pathway ISO
 biological_processGO:0007221 positive regulation of transcription of Notch receptor target IGI
 biological_processGO:0010831 positive regulation of myotube differentiation IEA
 biological_processGO:0045445 myoblast differentiation IEP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0051149 positive regulation of muscle cell differentiation IMP
 biological_processGO:0060928 atrioventricular node cell development IMP
 cellular_componentGO:0002193 MAML1-RBP-Jkappa- ICN1 complex IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003713 transcription coactivator activity ISO
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0042605 peptide antigen binding IEA


Pathways (from Reactome)
Pathway description
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000260 abnormal angiogenesis "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0000715 decreased thymocyte number "fewer than expected number of precursors to T cells; these cells are lymphoid cells found in the thymus " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

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

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 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: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

 MP:0005090 increased double-negative T cells count "greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 MP:0008182 decreased marginal zone B cell number "reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

 MP:0009768 impaired somite development "atypical process of somite formation with the result of fewer or none of these cell masses being formed" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 MP:0009967 abnormal neuron proliferation "any anomaly in the ability of a neuron to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

 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: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Arntltm1Bra/Arntltm1Bra,Tg(Scg2-tTA)1Jt/0,Tg(tetO-Arntl)1Jt/0
Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Tmem173tm1Camb/Tmem173tm1Camb
Genetic Background: involves: C57BL/6N

Allelic Composition: Maml1tm1Mkit/Maml1tm1Mkit,Maml3tm1Mkit/Maml3tm1Mkit
Genetic Background: B6.129P2-Maml3tm1Mkit Maml1tm1Mkit

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039191 Rbpj / P31266 / Recombining binding protein suppressor of hairless / Q06330* / recombination signal binding protein for immunoglobulin kappa J region*  / complex / reaction
 ENSMUSG00000038146 Notch3 / Q61982 / Neurogenic locus notch homolog protein 3 Notch 3 extracellular truncation Notch 3 intracellular domain / Q9UM47*  / complex
 ENSMUSG00000027878 Notch2 / Q04721*  / complex / reaction






 

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