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Aliases for MAMLD1 Gene

Aliases for MAMLD1 Gene

  • Mastermind-Like Domain Containing 1 2 3
  • CXorf6 3 4 6
  • F18 3 4 6
  • HYSP2 3 6
  • CG1 3 4
  • Mastermind-Like Domain-Containing Protein 1 3
  • Chromosome X Open Reading Frame 6 2
  • Protein CG1 4

External Ids for MAMLD1 Gene

Previous HGNC Symbols for MAMLD1 Gene

  • CXorf6

Previous GeneCards Identifiers for MAMLD1 Gene

  • GC0XP149282
  • GC0XP149364
  • GC0XP149530
  • GC0XP138395

Summaries for MAMLD1 Gene

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. Among its related pathways are Signaling by GPCR and Disease.

UniProtKB/Swiss-Prot for MAMLD1 Gene

  • Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMLD1 Gene

Genomics for MAMLD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAMLD1 Gene

150,361,422 bp from pter
150,514,178 bp from pter
152,757 bases
Plus strand

Genomic View for MAMLD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAMLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAMLD1 Gene

No data available for Regulatory Elements for MAMLD1 Gene

Proteins for MAMLD1 Gene

  • Protein details for MAMLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mastermind-like domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RCQ4
    • B4DG93
    • B9EGA5

    Protein attributes for MAMLD1 Gene

    774 amino acids
    Molecular mass:
    83231 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC50551.1; Type=Frameshift; Positions=59; Evidence={ECO:0000305}; Sequence=BAG37651.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MAMLD1 Gene


neXtProt entry for MAMLD1 Gene

Proteomics data for MAMLD1 Gene at MOPED

Post-translational modifications for MAMLD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAMLD1 Gene

Antibody Products

No data available for DME Specific Peptides for MAMLD1 Gene

Domains for MAMLD1 Gene

Protein Domains for MAMLD1 Gene


Suggested Antigen Peptide Sequences for MAMLD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the mastermind family.
  • Belongs to the mastermind family.
genes like me logo Genes that share domains with MAMLD1: view

No data available for Gene Families for MAMLD1 Gene

Function for MAMLD1 Gene

Molecular function for MAMLD1 Gene

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

Gene Ontology (GO) - Molecular Function for MAMLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with MAMLD1: view

Phenotypes for MAMLD1 Gene

MGI mutant phenotypes for MAMLD1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MAMLD1:
genes like me logo Genes that share phenotypes with MAMLD1: view

Animal Models for MAMLD1 Gene

MGI Knock Outs for MAMLD1:

Animal Model Products

miRNA for MAMLD1 Gene

miRTarBase miRNAs that target MAMLD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAMLD1 Gene

Localization for MAMLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAMLD1 Gene

Nucleus. Note=Punctate nuclear localization.

Subcellular locations from

Jensen Localization Image for MAMLD1 Gene COMPARTMENTS Subcellular localization image for MAMLD1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAMLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MAMLD1: view

Pathways for MAMLD1 Gene

genes like me logo Genes that share pathways with MAMLD1: view

Interacting Proteins for MAMLD1 Gene

Gene Ontology (GO) - Biological Process for MAMLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0008584 male gonad development IEP 17848411
genes like me logo Genes that share ontologies with MAMLD1: view

Transcripts for MAMLD1 Gene

Unigene Clusters for MAMLD1 Gene

Mastermind-like domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAMLD1 Gene

No ASD Table

Relevant External Links for MAMLD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MAMLD1 Gene

mRNA expression in normal human tissues for MAMLD1 Gene

Protein differential expression in normal tissues for MAMLD1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MAMLD1 Gene

SOURCE GeneReport for Unigene cluster for MAMLD1 Gene Hs.20136

mRNA Expression by UniProt/SwissProt for MAMLD1 Gene

Tissue specificity: Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.
genes like me logo Genes that share expressions with MAMLD1: view

Expression partners for MAMLD1 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAMLD1 Gene

Orthologs for MAMLD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAMLD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MAMLD1 35
  • 76.31 (n)
  • 65.3 (a)
  • 63 (a)
(Mus musculus)
Mammalia Mamld1 16
Mamld1 36
  • 63 (a)
(Canis familiaris)
Mammalia MAMLD1 36
  • 71 (a)
(Monodelphis domestica)
Mammalia MAMLD1 36
  • 33 (a)
(Ornithorhynchus anatinus)
Mammalia MAMLD1 36
  • 32 (a)
(Pan troglodytes)
Mammalia MAMLD1 36
  • 83 (a)
(Gallus gallus)
Aves MAMLD1 36
  • 30 (a)
(Anolis carolinensis)
Reptilia MAMLD1 36
  • 43 (a)
Species with no ortholog for MAMLD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MAMLD1 Gene

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

Paralogs for MAMLD1 Gene

No data available for Paralogs for MAMLD1 Gene

Variants for MAMLD1 Gene

Sequence variations from dbSNP and Humsavar for MAMLD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs10719413 -- 150,493,970(+) TTTTT(-/T)CTATG intron-variant
rs11094630 -- 150,361,367(+) CTCTT(C/T)CTCCA upstream-variant-2KB
rs11380843 -- 150,410,985(-) AATCA(-/A/C)AAAAA intron-variant
rs12389985 -- 150,371,902(+) aaccc(C/T)atgat intron-variant
rs12389317 -- 150,406,406(-) AGGCT(C/T)TTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAMLD1 Gene

Variant ID Type Subtype PubMed ID
nsv525908 CNV Gain 19592680
nsv7466 OTHER Inversion 18451855
esv1003742 CNV Deletion 20482838
esv2039684 CNV Deletion 18987734
esv2740595 CNV Deletion 23290073
esv1008195 CNV Deletion 20482838
esv1779711 CNV Deletion 17803354
esv989719 OTHER Inversion 20482838
nsv513728 OTHER Inversion 21212237
dgv64n47 OTHER Inversion 21111241
esv1589182 OTHER Inversion 17803354
nsv523240 CNV Gain 19592680
nsv526939 CNV Gain 19592680
nsv819010 CNV Insertion 19587683
nsv520835 CNV Gain 19592680
nsv526896 CNV Loss 19592680
nsv508810 CNV Insertion 20534489

Relevant External Links for MAMLD1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAMLD1 Gene

Disorders for MAMLD1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MAMLD1 Gene in MalaCards »

(3) Diseases for MAMLD1 Gene

(1) OMIM Diseases for MAMLD1 Gene (300120)


  • 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.

(1) University of Copenhagen DISEASES for MAMLD1 Gene

Relevant External Links for MAMLD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MAMLD1: view

No data available for Novoseek inferred disease relationships and Genatlas for MAMLD1 Gene

Publications for MAMLD1 Gene

  1. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. (PMID: 18162467) Fukami M. … Ogata T. (J. Biol. Chem. 2008) 2 3 4
  2. CXorf6 is a causative gene for hypospadias. (PMID: 17086185) Fukami M. … Ogata T. (Nat. Genet. 2006) 2 3 4
  3. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. (PMID: 9169146) Laporte J. … Dahl N. (Genomics 1997) 2 3
  4. Mutations of CXorf6 are associated with a range of severities of hypospadias. (PMID: 18635673) Kalfa N. … Baskin L.S. (Eur. J. Endocrinol. 2008) 3 48
  5. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PMID: 8640223) Laporte J. … Dahl N. (Nat. Genet. 1996) 3 4

Products for MAMLD1 Gene

Sources for MAMLD1 Gene

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