======= FAM175A =======
== Gene Information ==
* **Official Symbol**: ABRAXAS1
* **Official Name**: abraxas 1, BRCA1 A complex subunit
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84142|84142]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q6UWZ7|Q6UWZ7]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=FAM175A&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FAM175A|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/611143|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
* **UniProt Summary**: Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:22357538, ECO:0000269|PubMed:26778126}.
No Pfam Domain information is available for this gene.
|BRCA1-A complex|
|signal transduction involved in G2 DNA damage checkpoint|
|G2 DNA damage checkpoint|
|polyubiquitin modification-dependent protein binding|
|double-strand break repair via nonhomologous end joining|
|non-recombinational repair|
|positive regulation of DNA repair|
|signal transduction involved in DNA damage checkpoint|
|signal transduction involved in DNA integrity checkpoint|
|signal transduction involved in cell cycle checkpoint|
|positive regulation of response to DNA damage stimulus|
|negative regulation of cell cycle G2/M phase transition|
|signal transduction in response to DNA damage|
|regulation of DNA repair|
|DNA damage checkpoint|
|DNA integrity checkpoint|
|response to ionizing radiation|
|double-strand break repair|
|cell cycle checkpoint|
|positive regulation of DNA metabolic process|
|regulation of cell cycle G2/M phase transition|
|regulation of response to DNA damage stimulus|
|negative regulation of cell cycle phase transition|
|protein deubiquitination|
|nuclear body|
|protein modification by small protein removal|
|negative regulation of cell cycle process|
|regulation of DNA metabolic process|
|response to radiation|
|regulation of cell cycle phase transition|
|DNA repair|
|negative regulation of cell cycle|
|chromatin organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|protein modification by small protein conjugation or removal|
|chromosome organization|
|response to abiotic stimulus|
|regulation of cell cycle|
|proteolysis|
|regulation of response to stress|
|intracellular signal transduction|
|cellular response to stress|
|positive regulation of nucleobase-containing compound metabolic process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp198|Etoposide 0.1μM R05 exp198]]|-2.37|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.77|
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.46|
|[[:human genes:b:bre|BRE]]|0.413|
Global Fraction of Cell Lines Where Essential: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 16493
* **Expression level (log2 read counts)**: 5.61
{{:chemogenomics:nalm6 dist.png?nolink |}}