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MGP004096

UniProt Annotations

Entry Information
Gene Namemastermind-like domain containing 1
Protein EntryMAMD1_HUMAN
UniProt IDQ13495
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13495-1; Sequence=Displayed; Name=2; IsoId=Q13495-3; Sequence=VSP_037654, VSP_037655; Name=3; IsoId=Q13495-4; Sequence=VSP_037654;
DiseaseHypospadias 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.
FunctionTransactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. {ECO:0000269|PubMed:18162467}.
InductionBy NR5A1. {ECO:0000269|PubMed:18162467}.
Sequence CautionSequence=AAC50551.1; Type=Frameshift; Positions=59; Evidence={ECO:0000305}; Sequence=BAG37651.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the mastermind family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:18162467}. Note=Punctate nuclear localization.
Tissue SpecificityExpressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle. {ECO:0000269|PubMed:18162467}.
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