Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MAMLD1 contributors: mct/npt - updated : 03-05-2008
HGNC name mastermind-like domain containing 1
HGNC id 2568
Corresponding disease
HSPDX hypospadias, X-linked
MSDX myotubular myopathy with abnormal genital development
Location Xq28      Physical location : 149.531.550 - 149.682.448
Synonym name
  • protein CG1
  • chromosome X open reading frame 6
  • hypothetical protein LOC10046
    • Synonym symbol(s) F18, XAP80, CG1, CXorf6
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text same or overlapping XAP80
    STRUCTURE 68.73 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - DXS304 - DXS8377 - [DXS334 - DXS462 - DXS341 - [[DXS455 ] - DXS7423 ]] - DXS1281 - DXS497 - qter
    Authors Laporte (97), Bartsch (99)
    Text [CXorf6 ],[[MTM1 ]]
    regionally located linked to locus MTM1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 4636 83.1 774 - Fukami (2008)
    - - splicing 4600 - 660 fetal brain Fukami (2006)
    skipping exon 4
    - - splicing 4600 - 424 - -
    starting exon 5, overlapping ORF
    - - - 3800 - 701 placenta Fukami (2006)
    - - - 2600 - - pancreas -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a serine-rich domain, as well as glutamine- and proline-rich domains
  • two stretches encoding polyglutamine tracts
  • a mastermind-like (MAML) motif
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text co-localized with structurally related MAML2 in the nuclear bodies
    basic FUNCTION
  • putative DNA binding protein, involved in gonadal function
  • functioning as a co-activator in canonical Notch signaling, non-DNA-binding transcriptional co-activator in Notch signaling
  • involved in testosterone production and harbors an NR5A1 target sequence
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transactivates the HES3 promoter, augments testosterone production, and contains the NR5A1 target sequence
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSDX , HSPDX
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS