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    MAMLD1 mastermind-like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 10046, updated on 4-Jul-2015
    Official Symbol
    MAMLD1provided by HGNC
    Official Full Name
    mastermind-like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:2568
    See related
    Ensembl:ENSG00000013619; HPRD:02126; MIM:300120; Vega:OTTHUMG00000024157
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CG1; F18; HYSP2; CXorf6
    Summary
    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]
    Orthologs
    See MAMLD1 in Epigenomics, MapViewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (150361589..150514178)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149529836..149682448)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene microRNA 2114 Neighboring gene X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 Neighboring gene myotubularin 1 Neighboring gene myotubularin related protein 1

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypospadias 2, X-linked
    MedGen: C2677879 OMIM: 300758 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of mastermind-like domain containing 1 (MAMLD1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

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      Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
    • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
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    • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
      NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
    • NOTCH2 intracellular domain regulates transcription, organism-specific biosystem (from REACTOME)
      NOTCH2 intracellular domain regulates transcription, organism-specific biosystemIn the nucleus, NICD2 forms a complex with RBPJ (CBF1, CSL) and MAML (mastermind). NICD2:RBPJ:MAML complex activates transcription from RBPJ-binding promoter elements (RBEs) (Wu et al. 2000). Besides...
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    • Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
    • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
    • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
    • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    mastermind-like domain-containing protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017093.2 RefSeqGene

      Range
      4981..155881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177465.2NP_001170936.1  mastermind-like domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001170936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK094563, AK294478, AW594465, DC320452
      Consensus CDS
      CCDS55526.1
      UniProtKB/Swiss-Prot
      Q13495
    2. NM_001177466.2NP_001170937.1  mastermind-like domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001170937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK094563, AK294478, AW594465, BC136324
      Consensus CDS
      CCDS55525.1
      UniProtKB/Swiss-Prot
      Q13495
      Related
      ENSP00000397438, ENST00000426613
    3. NM_005491.4NP_005482.2  mastermind-like domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_005482.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter 5' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK094563, AK294478, AK315217, AW594465, BC136324
      Consensus CDS
      CCDS14693.2
      UniProtKB/Swiss-Prot
      Q13495
      Related
      ENSP00000262858, ENST00000262858

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      150361589..150514178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531093.1XP_011529395.1  

      See identical proteins and their annotated locations for XP_011529395.1

    2. XM_006724802.2XP_006724865.1  

      See identical proteins and their annotated locations for XP_006724865.1

      UniProtKB/Swiss-Prot
      Q13495
    3. XM_011531095.1XP_011529397.1  

    4. XM_011531092.1XP_011529394.1  

      See identical proteins and their annotated locations for XP_011529394.1

    5. XM_006724803.2XP_006724866.1  

      See identical proteins and their annotated locations for XP_006724866.1

      UniProtKB/Swiss-Prot
      Q13495
    6. XM_011531096.1XP_011529398.1  

    7. XM_011531094.1XP_011529396.1  

      See identical proteins and their annotated locations for XP_011529396.1

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      149405872..149556741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)