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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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for MAMLD1 gene to outside databases

Previous GC identifers: GC0XP149282 GC0XP149364 GC0XP138395


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hypospadias 2, x-linked, and hypospadias.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MAMLD1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495 (See protein sequence)
Recommended Name: Mastermind-like domain-containing protein 1  
Size: 774 amino acids; 83231 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAMLD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    MAMLD1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for MAMLD1
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       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
    Products:
        
    miRTarBase miRNAs that target MAMLD1:
    hsa-mir-335-5p (MIRT017096)

    Block miRNA regulation of human, mouse, rat MAMLD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAMLD1 (see all 11):
    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
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    Predesigned siRNA for gene silencing in human, mouse, rat MAMLD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMLD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAMD1_HUMAN, Q13495: Nucleus. Note=Punctate nuclear localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    MAMLD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MAMLD1 About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    2Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Notch-HLH transcription pathway0.00
    Pre-NOTCH Transcription and Translation0.62
    3Signaling by NOTCH2
    Signaling by NOTCH20.67
    NOTCH2 intracellular domain regulates transcription0.00
    4Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for MAMLD1 (see all 6)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Pre-NOTCH Transcription and Translation
    Notch-HLH transcription pathway
    NOTCH2 intracellular domain regulates transcription



    MAMLD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAMLD1
    Interactions:

        Search GeneGlobe Interaction Network for MAMLD1

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0008584male gonad development IEP17848411

    MAMLD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat MAMLD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAMLD1 (see all 11):
    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
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    Predesigned siRNA for gene silencing in human, mouse, rat MAMLD1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MAMLD1 (NM_005491)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAMLD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAMLD1
    Primer
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    OriGene qPCR primer pairs and template standards for MAMLD1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAMLD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAMLD1
      QuantiTect SYBR Green Assays in human, mouse, rat MAMLD1
      QuantiFast Probe-based Assays in human, mouse, rat MAMLD1

    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 

    Selected AceView cDNA sequences (see all 58):

    BE904543 BU687638 AA702838 AW005188 AA416975 AI052796 BM546484 AI078048 
    AA602881 BM069476 AW452261 AA398654 AK125184 BM711760 BM665575 AI825576 
    BX537560 AA470062 AW292065 AA347319 NM_005491 W60292 BF940737 BG769583 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAMLD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATTTAAG
    MAMLD1 Expression
    About this image

    MAMLD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAMLD1 Protein Expression

    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
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MAMLD1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mamld15 mastermind-like domain containing 1   --   X (36.33 cM) 71050256 
    chicken
    (Gallus gallus)
    Aves MAMLD16
    mastermind-like domain containing 1
    30(a)
    1 ↔ 1
    4(17752827-17830120)
    lizard
    (Anolis carolinensis)
    Reptilia MAMLD16
    mastermind-like domain containing 1
    43(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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAMLD1 (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
    ----------
    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--------
    rs1137153141,2
    C,F--149398478(+) CGGGCT/GGCCGC 1 -- us2k11Minor allele frequency- G:0.00CSA 1

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 300120   
    OMIM disorders: 300758  
    UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495
  • Hypospadias 2, X-linked (HYSP2) [MIM:300758]: A common malformation in which the urethra opens on the
    ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular,
    penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic
    disorders, including the androgen insensitivity syndrome and Opitz syndrome. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 8 diseases for MAMLD1:    About MalaCards
    hypospadias 2, x-linked    hypospadias    x-linked centronuclear myopathy    spermatic cord torsion
    smallpox    myopathy    multiple myeloma    myeloma

    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)
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    PubMed articles for MAMLD1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with MAMLD1)
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    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. (J. Biol. Chem. 2008)
    2. CXorf6 is a causative gene for hypospadias. (PubMed id 17086185)1, 2, 3 Fukami M.... Ogata T. (Nat. Genet. 2006)
    3. Mutational study of the MAMLD1-gene in hypospadias. (PubMed id 20347055)1, 4 Chen Y....NordenskjAPld A. (Eur J Med Genet 2010)
    4. Mutations of CXorf6 are associated with a range of severities of hypospadias. (PubMed id 18635673)1, 4 Kalfa N....Baskin L.S. (Eur. J. Endocrinol. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genomics 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. (Nat. Genet. 1996)
    8. [Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese]. (PubMed id 22934520)1 Zhuang L.K....Sun J. (Zhonghua Nan Ke Xue 2012)
    9. Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. (PubMed id 22479329)1 Kalfa N....Sultan C. (PLoS ONE 2012)
    10. MAMLD1 and 46,XY disorders of sex development. (PubMed id 23044878)1 Ogata T....Fukami M. (Semin. Reprod. Med. 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)
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    Entrez Gene: 10046 HGNC: 2568 AceView: CXorf6 Ensembl:ENSG00000013619 euGenes: HUgn10046
    ECgene: MAMLD1 H-InvDB: MAMLD1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAMLD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAMLD1 gene:
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