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Ask your administrator if you think this is wrong. ======= ABCB7 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ABCB7 * **<color #00a2e8>Official Name</color>**: ATP binding cassette subfamily B member 7 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=22|22]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75027|O75027]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ABCB7&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABCB7|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300135|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]. * **<color #00a2e8>UniProt Summary</color>**: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. <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 tran| |ABC membrane| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |heme transporter activity| |heme transport| |iron coordination entity transport| |cofactor transport| |ATPase-coupled transmembrane transporter activity| |cellular iron ion homeostasis| |iron ion transport| |iron ion homeostasis| |cellular transition metal ion homeostasis| |transition metal ion transport| |transition metal ion homeostasis| |ATPase activity| |mitochondrial inner membrane| |cellular metal ion homeostasis| |metal ion homeostasis| |cellular cation homeostasis| |metal ion transport| |cellular ion homeostasis| |cation homeostasis| |inorganic ion homeostasis| |cellular chemical homeostasis| |ion homeostasis| |cation transport| |cellular homeostasis| |ion transmembrane transport| |chemical homeostasis| |transmembrane transport| |ion transport| |ATP binding| |homeostatic process| |nitrogen compound transport| </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:exp362|GSK-J4 1μM R07 exp362]]|-3.25| |[[:results:exp346|CoCl2 18μM R07 exp346]]|-2.85| |[[:results:exp320|ABT-702 5μM plus CoCl2 18μM R07 exp320]]|-2.16| |[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|-2.16| |[[:results:exp450|Artemisinin 50μM R08 exp450]]|-2.1| |[[:results:exp333|All-trans-Retinoic-Acid 8μM R07 exp333]]|-2.1| |[[:results:exp342|Calcium Ionophore 0.4μM R07 exp342]]|-2.09| |[[:results:exp344|Chlorpromazine 10μM R07 exp344]]|-2.01| |[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|-1.9| |[[:results:exp534|Trientine 500μM R08 exp534]]|-1.9| |[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.79| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:h:hars|HARS]]|0.492| |[[:human genes:h:hspd1|HSPD1]]|0.474| |[[:human genes:g:gmppb|GMPPB]]|0.461| |[[:human genes:r:rpn1|RPN1]]|0.455| |[[:human genes:n:nars|NARS]]|0.44| |[[:human genes:r:rnmt|RNMT]]|0.432| |[[:human genes:e:exoc4|EXOC4]]|0.432| |[[:human genes:s:spcs3|SPCS3]]|0.417| |[[:human genes:d:dad1|DAD1]]|0.414| |[[:human genes:o:oip5|OIP5]]|0.401| |[[:human genes:m:meaf6|MEAF6]]|0.4| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 506/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|1/1| |909776.0|0/1| |bile duct|17/28| |blood|22/26| |bone|20/26| |breast|20/30| |central nervous system|35/49| |cervix|3/4| |colorectal|10/17| |esophagus|9/11| |fibroblast|1/1| |gastric|8/14| |kidney|14/18| |liver|11/19| |lung|54/72| |lymphocyte|10/16| |ovary|20/25| |pancreas|17/22| |peripheral nervous system|12/15| |plasma cell|9/12| |prostate|0/1| |skin|15/20| |soft tissue|9/9| |thyroid|1/2| |upper aerodigestive|19/22| |urinary tract|19/28| |uterus|2/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 986 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.87 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ABCB7 Expression in NALM6 Cells: 5.87'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1