ENSG00000013619


Homo sapiens

Features
Gene ID: ENSG00000013619
  
Biological name :MAMLD1
  
Synonyms : MAMLD1 / mastermind like domain containing 1 / Q13495
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 150361422
Gene end: 150514178
  
Corresponding Affymetrix probe sets: 205088_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351765
Ensembl peptide - ENSP00000397438
Ensembl peptide - ENSP00000414517
Ensembl peptide - ENSP00000262858
Ensembl peptide - ENSP00000359428
NCBI entrez gene - 10046     See in Manteia.
OMIM - 300120
RefSeq - XM_017029189
RefSeq - NM_001177465
RefSeq - NM_001177466
RefSeq - NM_005491
RefSeq - XM_006724803
RefSeq - XM_011531092
RefSeq - XM_011531093
RefSeq - XM_011531095
RefSeq - XM_017029188
RefSeq - XM_006724802
RefSeq Peptide - NP_001170936
RefSeq Peptide - NP_001170937
RefSeq Peptide - NP_005482
swissprot - Q13495
swissprot - F8WAK3
Ensembl - ENSG00000013619
  
Related genetic diseases (OMIM): 300758 - Hypospadias 2, X-linked, 300758
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 MAMLD1ENSGALG00000009098Gallus gallus
 Mamld1ENSMUSG00000059401Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026131  Mastermind-like domain-containing protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0008584 male gonad development IEP
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0016604 nuclear body IDA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
Pre-NOTCH Transcription and Translation
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000808 Penoscrotal hypospadias "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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