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Ask your administrator if you think this is wrong. ======= ABCD3 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ABCD3 * **<color #00a2e8>Official Name</color>**: ATP binding cassette subfamily D member 3 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5825|5825]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P28288|P28288]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ABCD3&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABCD3|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/170995|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. * **<color #00a2e8>UniProt Summary</color>**: Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP- binding subunit with ATPase activity (PubMed:11248239). {ECO:0000269|PubMed:11248239, ECO:0000269|PubMed:25168382}. <button type='primary' 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'> |ABC membrane 2| |ABC tran| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |long-chain fatty acid import into peroxisome| |very long-chain fatty acid catabolic process| |long-chain fatty acid transporter activity| |fatty acid transmembrane transport| |peroxisomal membrane transport| |very long-chain fatty acid metabolic process| |intracellular lipid transport| |peroxisomal matrix| |ATPase-coupled transmembrane transporter activity| |protein self-association| |peroxisomal membrane| |fatty acid beta-oxidation| |long-chain fatty acid transport| |peroxisomal transport| |fatty acid transport| |fatty acid oxidation| |lipid oxidation| |peroxisome organization| |fatty acid catabolic process| |peroxisome| |monocarboxylic acid catabolic process| |fatty acid biosynthetic process| |organic acid transmembrane transport| |carboxylic acid transmembrane transport| |monocarboxylic acid transport| |monocarboxylic acid biosynthetic process| |cellular lipid catabolic process| |lipid modification| |ATPase activity| |carboxylic acid catabolic process| |organic acid catabolic process| |anion transmembrane transport| |carboxylic acid transport| |organic acid transport| |lipid transport| |lipid catabolic process| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |lipid localization| |fatty acid metabolic process| |small molecule catabolic process| |organic anion transport| |monocarboxylic acid metabolic process| |lipid biosynthetic process| |anion transport| |small molecule biosynthetic process| |intracellular membrane-bounded organelle| |protein homodimerization activity| |carboxylic acid metabolic process| |response to organic cyclic compound| |ion transmembrane transport| |cellular lipid metabolic process| |oxidation-reduction process| |oxoacid metabolic process| |response to drug| |organic acid metabolic process| |lipid metabolic process| |mitochondrion| |transmembrane transport| |ion transport| |ATP binding| |intracellular transport| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |establishment of localization in cell| |membrane| </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:exp98|BI-6727 0.04μM R03 exp98]]|1.81| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|5.28| |[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|6.02| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:l:ldlrap1|LDLRAP1]]|0.468| |[[:human genes:p:pex3|PEX3]]|0.443| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|1/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 15867 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.33 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ABCD3 Expression in NALM6 Cells: 6.33'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1