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

Gene ID: 10046, updated on 7-Aug-2014
Official Symbol
MAMLD1provided by HGNC
Official Full Name
mastermind-like domain containing 1provided by HGNC
Primary source
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]
See MAMLD1 in Epigenomics, MapViewer
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (150361422..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
X-linked hypospadias 2
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 Protein Interaction Database

  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystemFBXW7 (FBW7) is a component of the SCF (SKP1, CUL1, and F-box protein) ubiquitin ligase complex SCF-FBW7 which is involved in the degradation of NOTCH1 (Oberg et al. 2001, Wu et al. 2001, Fryer et al...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • 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...
  • Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
    Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • 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 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
  • 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 NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, 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). The tran...
  • 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
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 

    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 proteins identical to 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 proteins identical to 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    150361422..150514178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724802.1XP_006724865.1  

    See proteins identical to XP_006724865.1

    UniProtKB/Swiss-Prot
    Q13495
  2. XM_006724803.1XP_006724866.1  

    See proteins identical to XP_006724866.1

    UniProtKB/Swiss-Prot
    Q13495
  3. XM_005274636.2XP_005274693.1  

    See proteins identical to XP_005274693.1

    UniProtKB/Swiss-Prot
    Q13495

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    138395365..138540296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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