FAM175A [The Human Chemical-Genetic Interaction Map Project]

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======= FAM175A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ABRAXAS1
  * **<color #00a2e8>Official Name</color>**: abraxas 1, BRCA1 A complex subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84142|84142]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6UWZ7|Q6UWZ7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FAM175A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FAM175A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611143|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp198|Etoposide 0.1μM R05 exp198]]|-2.37|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.77|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.46|
|[[:human genes:b:bre|BRE]]|0.413|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16493
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.61 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FAM175A Expression in NALM6 Cells: 5.61'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>