======= 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 |}}