Version 5.4
Homo sapiens Protein: MAMLD1
Summary
InnateDB Protein IDBP-382277.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAMLD1
Protein Name mastermind-like domain containing 1
Synonyms CG1; CXorf6; F18; HYSP2;
Species Homo sapiens
Ensembl Protein ENSP00000397438
InnateDB Gene IDBG-88738 (MAMLD1)
Protein Structure
UniProt Annotation
Function Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. {ECO:0000269PubMed:18162467}.
Subcellular Localization Nucleus {ECO:0000269PubMed:18162467}. Note=Punctate nuclear localization.
Disease Associations 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.
Tissue Specificity Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle. {ECO:0000269PubMed:18162467}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0006351 transcription, DNA-templated
GO:0008584 male gonad development
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13495
PhosphoSite PhosphoSite-Q13495
TrEMBL
UniProt Splice Variant
Entrez Gene 10046
UniGene Hs.20136
RefSeq NP_001170937
HUGO HGNC:2568
OMIM 300120
CCDS CCDS55525
HPRD 02126
IMGT
EMBL AC109994 AK294478 AK315217 AL034384 BC136324 U46023
GenPept AAC50551 AAI36325 BAG37651 BAG57704

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca