InnateDB Protein
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IDBP-382272.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MAMLD1
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Protein Name
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mastermind-like domain containing 1
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Synonyms
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CG1; CXorf6; F18; HYSP2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000414517
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InnateDB Gene
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IDBG-88738 (MAMLD1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:18162467}. Note=Punctate nuclear localization.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q13495
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PhosphoSite |
PhosphoSite-Q13495
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TrEMBL |
Q6ZUZ1
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UniProt Splice Variant |
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Entrez Gene |
10046
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UniGene |
Hs.20136
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RefSeq |
NP_001170936
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HUGO |
HGNC:2568
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OMIM |
300120
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CCDS |
CCDS55526
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HPRD |
02126
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IMGT |
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EMBL |
AC109994
AK125184
AK294478
AK315217
AL034384
BC136324
U46023
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GenPept |
AAC50551
AAI36325
BAC86075
BAG37651
BAG57704
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