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Aliases for MAMLD1 Gene

Aliases for MAMLD1 Gene

  • Mastermind Like Domain Containing 1 2 3 5
  • CXorf6 3 4
  • CG1 3 4
  • F18 3 4
  • Mastermind-Like Domain-Containing Protein 1 3
  • Chromosome X Open Reading Frame 6 2
  • Protein CG1 4
  • HYSP2 3

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 NOTCH1 and Pre-NOTCH Expression and Processing.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMLD1 Gene

Genomics for MAMLD1 Gene

Regulatory Elements for MAMLD1 Gene

Enhancers for MAMLD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG150361 1.4 FANTOM5 ENCODE 10 +3.3 3309 5.8 SIN3A GLI4 ZNF2 ZNF48 YY1 ZNF121 GLIS2 FOS KLF7 ZNF548 TMEM185AP1 MIR2114 XRCC6P2 MAMLD1 GC0XM150545
GH0XG150478 0.7 Ensembl ENCODE 18.4 +117.7 117676 1.6 ZNF680 MTA2 IKZF1 MAMLD1 GC0XM150545
GH0XG150476 0.7 ENCODE 17.3 +115.7 115663 1.8 ZNF263 TBP JUN BHLHE40 MAX CEBPB CEBPG EP300 BRCA1 ZNF518A MAMLD1 LINC00894 GC0XM150545
GH0XG150482 1.3 FANTOM5 Ensembl ENCODE 5.8 +121.7 121656 1.1 PKNOX1 JUN RELA FOSL1 FOSL2 NFE2 FOS MAFK JUNB CEBPB MAMLD1 GC0XM150545
GH0XG150201 1.2 FANTOM5 Ensembl ENCODE 3.9 -158.6 -158626 1.6 IKZF1 JUNB ETV6 RAD21 SPI1 MIR2114 LINC00893 MAMLD1 LOC643015
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAMLD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAMLD1 Gene

Chromosome:
X
Start:
150,361,422 bp from pter
End:
150,514,178 bp from pter
Size:
152,757 bases
Orientation:
Plus strand

Genomic View for MAMLD1 Gene

Genes around MAMLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAMLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAMLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAMLD1 Gene

Proteins for MAMLD1 Gene

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

    Protein Symbol:
    Q13495-MAMD1_HUMAN
    Recommended name:
    Mastermind-like domain-containing protein 1
    Protein Accession:
    Q13495
    Secondary Accessions:
    • B2RCQ4
    • B4DG93
    • B9EGA5

    Protein attributes for MAMLD1 Gene

    Size:
    774 amino acids
    Molecular mass:
    83231 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for MAMLD1 Gene

Post-translational modifications for MAMLD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAMLD1 Gene

Domains & Families for MAMLD1 Gene

Protein Domains for MAMLD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAMLD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13495

UniProtKB/Swiss-Prot:

MAMD1_HUMAN :
  • Belongs to the mastermind family.
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

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

Human Phenotype Ontology for MAMLD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAMLD1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
golgi apparatus 4
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 --
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with MAMLD1: view

Pathways & Interactions 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:0006355 regulation of 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

No data available for SIGNOR curated interactions for MAMLD1 Gene

Drugs & Compounds for MAMLD1 Gene

No Compound Related Data Available

Transcripts for MAMLD1 Gene

Unigene Clusters for MAMLD1 Gene

Mastermind-like domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for MAMLD1 Gene

GeneLoc Exon Structure for
MAMLD1
ECgene alternative splicing isoforms for
MAMLD1

Expression for MAMLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAMLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAMLD1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MAMLD1 Gene



Protein tissue co-expression partners for MAMLD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAMLD1 Gene:

MAMLD1

SOURCE GeneReport for Unigene cluster for MAMLD1 Gene:

Hs.20136

mRNA Expression by UniProt/SwissProt for MAMLD1 Gene:

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

Evidence on tissue expression from TISSUES for MAMLD1 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAMLD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MAMLD1: view

Primer Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia MAMLD1 35
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAMLD1 34 35
  • 76.31 (n)
dog
(Canis familiaris)
Mammalia MAMLD1 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamld1 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAMLD1 35
  • 33 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAMLD1 35
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAMLD1 35
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAMLD1 35
  • 43 (a)
OneToOne
Species where no ortholog for MAMLD1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for MAMLD1 (if available)
TreeFam:
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
rs121909493 Pathogenic 150,470,162(+) ATCTT(G/T)AGAAG reference, stop-gained
rs121909494 Pathogenic 150,470,381(+) GTAAG(C/T)AGATA reference, stop-gained
rs121909495 Pathogenic 150,503,409(+) TGGCC(C/T)GAGTC intron-variant, reference, stop-gained
rs193920839 Uncertain significance 150,510,035(+) GATGA(G/T)TCCAT reference, missense, utr-variant-3-prime
rs1000020087 -- 150,372,382(+) AATGA(A/G)ATCTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2525e212 CNV loss 25503493
dgv4317n106 CNV duplication 24896259
dgv4629e59 OTHER inversion 20981092
dgv64n47 OTHER inversion 21111241
esv1003742 CNV deletion 20482838
esv1008195 CNV deletion 20482838
esv1589182 OTHER inversion 17803354
esv1779711 CNV deletion 17803354
esv2039684 CNV deletion 18987734
esv2740595 CNV deletion 23290073
esv3559459 CNV deletion 23714750
esv3559460 CNV deletion 23714750
esv3574974 CNV loss 25503493
esv3574977 CNV loss 25503493
nsv1076731 CNV duplication 25765185
nsv1139427 CNV deletion 24896259
nsv1145901 CNV deletion 26484159
nsv1147808 CNV duplication 26484159
nsv473004 CNV novel sequence insertion 20440878
nsv473693 CNV novel sequence insertion 20440878
nsv508810 CNV insertion 20534489
nsv513728 OTHER inversion 21212237
nsv520835 CNV gain 19592680
nsv523240 CNV gain 19592680
nsv525908 CNV gain 19592680
nsv526896 CNV loss 19592680
nsv7466 OTHER inversion 18451855
nsv819010 CNV insertion 19587683
nsv957768 CNV deletion 24416366

Variation tolerance for MAMLD1 Gene

Residual Variation Intolerance Score: 41.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAMLD1 Gene

Human Gene Mutation Database (HGMD)
MAMLD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAMLD1

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

Disorders for MAMLD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAMLD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypospadias 2, x-linked
  • hysp2
hypospadias
  • familial hypospadias
myotubular myopathy with abnormal genital development
  • x-linked myotubular myopathy-abnormal genitalia syndrome
akinetic mutism
  • coma vigilans
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MAMD1_HUMAN
  • 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. {ECO:0000269 PubMed:17086185}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAMLD1

Genetic Association Database (GAD)
MAMLD1
Human Genome Epidemiology (HuGE) Navigator
MAMLD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAMLD1
genes like me logo Genes that share disorders with MAMLD1: view

No data available for 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 64
  2. CXorf6 is a causative gene for hypospadias. (PMID: 17086185) Fukami M. … Ogata T. (Nat. Genet. 2006) 2 3 4 64
  3. Mutational study of the MAMLD1-gene in hypospadias. (PMID: 20347055) Chen Y. … NordenskjAPld A. (Eur J Med Genet 2010) 3 46 64
  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 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MAMLD1 Gene

Sources for MAMLD1 Gene

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