======= MAMLD1 ======= == Gene Information == * **Official Symbol**: MAMLD1 * **Official Name**: mastermind like domain containing 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10046|10046]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q13495|Q13495]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MAMLD1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MAMLD1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300120|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: Transactivates 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}. No Pfam Domain information is available for this gene. |male gonad development| |development of primary male sexual characteristics| |male sex differentiation| |gonad development| |development of primary sexual characteristics| |sex differentiation| |nuclear body| |reproductive structure development| |reproductive system development| |centrosome| |developmental process involved in reproduction| |molecular function| |Golgi apparatus| |reproductive process| |reproduction| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|-2.21| |[[:results:exp271|CCT251545 0.2μM R06 exp271]]|-1.72| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 11947 * **Expression level (log2 read counts)**: -3.21 {{:chemogenomics:nalm6 dist.png?nolink |}}