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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAMLD1 Gene

protein-coding   GIFtS: 52
GCID: GC0XP149530

Mastermind-Like Domain Containing 1

(Previous name: chromosome X open reading frame 6)
(Previous symbol: CXorf6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mastermind-Like Domain Containing 11 2     HYSP22 5
CXorf61 2 3 5     Chromosome X Open Reading Frame 61
F182 3 5     Mastermind-Like Domain-Containing Protein 12
CG12 3     Protein CG13

External Ids:    HGNC: 25681   Entrez Gene: 100462   Ensembl: ENSG000000136197   OMIM: 3001205   UniProtKB: Q134953   

Export aliases for MAMLD1 gene to outside databases

Previous GC identifers: GC0XP149282 GC0XP149364 GC0XP138395


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAMLD1 Gene:
This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional
co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, Apr 2010)

GeneCards Summary for MAMLD1 Gene: 
MAMLD1 (mastermind-like domain containing 1) is a protein-coding gene. Diseases associated with MAMLD1 include severe hypospadias, and hypospadias 2, x-linked, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Signaling by NOTCH2. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495
Function: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target
gene which lacks binding sites for RBPJ




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MAMLD1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAMLD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAMLD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAMLD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

MAMLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAMLD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP149530:  view genomic region     (about GC identifiers)

Start:
149,529,689 bp from pter      End:
149,682,448 bp from pter
Size:
152,760 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495 (See protein sequence)
Recommended Name: Mastermind-like domain-containing protein 1  
Size: 774 amino acids; 83231 Da
Subcellular location: Nucleus. Note=Punctate nuclear localization
Sequence caution: Sequence=AAC50551.1; Type=Frameshift; Positions=59; Sequence=BAG37651.1; Type=Erroneous
initiation;
Secondary accessions: B2RCQ4 B4DG93 B9EGA5
Alternative splicing: 3 isoforms:  Q13495-1   Q13495-3   Q13495-4   

Explore the universe of human proteins at neXtProt for MAMLD1: NX_Q13495

Explore proteomics data for MAMLD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13495

  • MAMLD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAMLD1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001170936.1  NP_001170937.1  NP_005482.2  

    ENSEMBL proteins: 
     ENSP00000359428   ENSP00000414517   ENSP00000351765   ENSP00000262858   ENSP00000397438  
     ENSP00000389106  
    Reactome Protein details: Q13495
    Human Recombinant Protein Products for MAMLD1: 
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    Novus Biologicals MAMLD1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAMLD1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    MAMLD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026131 MAMLD1

    Graphical View of Domain Structure for InterPro Entry Q13495

    ProtoNet protein and cluster: Q13495

    UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495
    Similarity: Belongs to the mastermind family


    MAMLD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAMD1_HUMAN, Q13495
    Function: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target
    gene which lacks binding sites for RBPJ
    Induction: By NR5A1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    MAMLD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MAMLD1:
     Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mamld1):
     reproductive system 

    MAMLD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mamld1tm1Tsga for MAMLD1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAMLD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAMLD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAMLD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAMLD1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAMLD1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MAMLD1 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    2NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    NICD traffics to nucleus0.32
    NOTCH2 intracellular domain regulates transcription0.38
    Notch-HLH transcription pathway0.32
    3Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    4Signaling by GPCR
    Signal Transduction0.55
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/19        Reactome Pathways for MAMLD1 (see all 19)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    FBXW7 Mutants and NOTCH1 in Cancer
    Notch-HLH transcription pathway
    Signaling by NOTCH1 HD Domain Mutants in Cancer



    MAMLD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAMLD1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0008584male gonad development IEP17848411

    MAMLD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAMLD1 (MAMD1)

    Search CenterWatch for drugs/clinical trials and news about MAMLD1 / MAMD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAMLD1 gene (3 alternative transcripts): 
    NM_001177465.2  NM_001177466.2  NM_005491.4  

    Unigene Cluster for MAMLD1:

    Mastermind-like domain containing 1
    Hs.20136  [show with all ESTs]
    Unigene Representative Sequence: BX537560
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468306 ENST00000370401(uc011mxu.2) ENST00000432680 ENST00000358892
    ENST00000464149 ENST00000262858(uc011mxt.1 uc004fee.2) ENST00000426613(uc011mxv.2 uc011mxw.2)
    ENST00000455522
    miRNA
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    hsa-miR-3671 hsa-miR-448 hsa-miR-607 hsa-miR-1226 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-4282 hsa-miR-33a*
    SwitchGear 3'UTR luciferase reporter plasmidMAMLD1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAMLD1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAMLD1
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    Additional mRNA sequence: 

    AK094563.1 AK125184.1 AK294478.1 AK297504.1 AK302612.1 AK315217.1 BC136324.1 BX537560.1 
    U46023.1 

    8 DOTS entries:

    DT.313156  DT.97793859  DT.121285560  DT.121285578  DT.121285576  DT.121285577  DT.91728196  DT.95359009 

    24/58 AceView cDNA sequences (see all 58):

    AA398654 AI078048 BU687638 BM069476 BM546484 AW005188 AW452261 BE904543 
    AI052796 AA416975 AA602881 AA702838 AA347319 BF688808 BG769583 BX116019 
    AW292065 AI825576 BX537560 W60292 BM665575 AK094563 AA292836 U46023 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAMLD1 expression in normal human tissues (normalized intensities)      MAMLD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATTTAAG
    MAMLD1 Expression
    About this image


    MAMLD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             cd31+ cells   
     
     Endothelium (Cardiovascular System)
             cd31+ cells   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H7 (WA07)
     
     Skeletal Muscle (Muscoskeletal System)
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   

    See MAMLD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAMLD1

    SOURCE GeneReport for Unigene cluster: Hs.20136

    UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495
    Tissue specificity: Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin,
    testis, uterus. Highly expressed in skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMLD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MAMLD1 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mamld11 , 5 mastermind-like domain containing 11, 5 81.83(n)1
    77.25(a)1
      X (36.33 cM)5
    3336391  NM_001256048.11  NP_001242977.11 
     710502565 
    chicken
    (Gallus gallus)
    Aves MAMLD11 mastermind-like domain containing 1 59.73(n)
    48.03(a)
      422389  XM_003641088.1  XP_003641136.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAMLD16
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL343310.1(862392-863972)


    ENSEMBL Gene Tree for MAMLD1 (if available)
    TreeFam Gene Tree for MAMLD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2249 SNPs in MAMLD1 are shown (see all 2249)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0300254
    ----see VAR_0300252 Q R mis40--------
    rs110946301,2
    C,F,A,H--149396806(+) CTCTTT/CCTCCA 1 -- us2k17Minor allele frequency- C:0.19NS EA NA CSA 424
    rs1910235231,2
    --149397038(+) TACTCA/CGAGGT 1 -- us2k10--------
    rs1824717001,2
    --149397809(+) CTGGGC/GATCTG 1 -- us2k10--------
    rs1867532281,2
    --149397871(+) ATTTCA/CTCCTC 1 -- us2k10--------
    rs1926218601,2
    --149397922(+) TCATCA/GTGTCT 1 -- us2k10--------
    rs7425811,2
    C,F,A,H--149397998(-) gagacT/Cgtacg 1 -- us2k118Minor allele frequency- C:0.86NS EA NA CSA 2039
    rs1833002011,2
    --149398267(+) GCCTAA/GGCAAG 1 -- us2k10--------
    rs1886537131,2
    --149398353(+) CGCCCC/TTCCGA 1 -- us2k10--------
    rs726127131,2
    C--149398382(+) GGTTCA/GAGCCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAMLD1 (149529689 - 149682448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for MAMLD1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1008195CNV Deletion20482838
    esv1779711CNV Deletion17803354
    esv2740595CNV Deletion23290073
    esv1003742CNV Deletion20482838
    esv2039684CNV Deletion18987734
    nsv508810CNV Insertion20534489
    nsv819010CNV Insertion19587683
    nsv526896CNV Loss19592680
    nsv520835CNV Gain19592680
    nsv525908CNV Gain19592680


    Human Gene Mutation Database (HGMD): MAMLD1

    Locus Specific Mutation Databases (LSDB): MAMLD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MAMLD1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAMLD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300120   
    OMIM disorders: 300758  
    UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495
  • X-linked hypospadias 2 (HYSP2) [MIM:300758]: Hypospadias is a common malformation in which the urethra
    opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental
    factors involved in the pathogenesis. Hypospadias can occur alone on an apparently multifactorial basis or as
    part of syndromes. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for MAMLD1:    About MalaCards
    severe hypospadias    hypospadias 2, x-linked    hypospadias    spermatic cord torsion
    smallpox    myopathy

    1 disease from the University of Copenhagen DISEASES database for MAMLD1:
    Hypospadias

    MAMLD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAMLD1
    Human Genome Epidemiology (HuGE) Navigator: MAMLD1 (2 documents)

    Export disorders for MAMLD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MAMLD1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with MAMLD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. (PubMed id 18162467)1, 2, 3 Fukami M.... Ogata T. (2008)
    2. CXorf6 is a causative gene for hypospadias. (PubMed id 17086185)1, 2, 3 Fukami M....Ogata T. (2006)
    3. Mutational study of the MAMLD1-gene in hypospadias. (PubMed id 20347055)1, 4 Chen Y....NordenskjAPld A. (2010)
    4. Mutations of CXorf6 are associated with a range of severities of hypospadias. (PubMed id 18635673)1, 4 Kalfa N....Baskin L.S. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. (PubMed id 9169146)1, 3 Laporte J....Dahl N. (1997)
    7. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PubMed id 8640223)1, 2 Laporte J.... Dahl N. (1996)
    8. [Single-nucleotide polymorphisms of MAMLD1 and hypospa dias in Chinese]. (PubMed id 22934520)1 Zhuang L.K....Sun J. (2012)
    9. Screening of MAMLD1 mutations in 70 children with 46,X Y DSD: identification and functional analysis of two new mutations. (PubMed id 22479329)1 Kalfa N....Sultan C. (2012)
    10. MAMLD1 and 46,XY disorders of sex development. (PubMed id 23044878)1 Ogata T....Fukami M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10046 HGNC: 2568 AceView: CXorf6 Ensembl:ENSG00000013619 euGenes: HUgn10046
    ECgene: MAMLD1 H-InvDB: MAMLD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAMLD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAMLD1 gene:
    Search GeneIP for patents involving MAMLD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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