ABCA5: Difference between revisions

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* {{cite journal | vauthors = Hu Y, Wang M, Veverka K, Garcia FU, Stearns ME | title = The ABCA5 protein: A urine diagnostic marker for prostatic intraepithelial neoplasia | journal = Clinical Cancer Research | volume = 13 | issue = 3 | pages = 929–38 | year = 2007 | pmid = 17289887 | doi = 10.1158/1078-0432.CCR-06-1718 }}
* {{cite journal | vauthors = Hu Y, Wang M, Veverka K, Garcia FU, Stearns ME | title = The ABCA5 protein: A urine diagnostic marker for prostatic intraepithelial neoplasia | journal = Clinical Cancer Research | volume = 13 | issue = 3 | pages = 929–38 | year = 2007 | pmid = 17289887 | doi = 10.1158/1078-0432.CCR-06-1718 }}
* {{cite journal | vauthors = Dean M, Rzhetsky A, Allikmets R | title = The human ATP-binding cassette (ABC) transporter superfamily | journal = Genome Research | volume = 11 | issue = 7 | pages = 1156–66 | year = 2001 | pmid = 11435397 | doi = 10.1101/gr.184901 | doi-broken-date = 2017-01-20 }}
* {{cite journal | vauthors = Dean M, Rzhetsky A, Allikmets R | title = The human ATP-binding cassette (ABC) transporter superfamily | journal = Genome Research | volume = 11 | issue = 7 | pages = 1156–66 | year = 2001 | pmid = 11435397 | doi = 10.1101/gr.184901 | doi-broken-date = 2018-09-23 }}
* {{cite journal | vauthors = Kubo Y, Sekiya S, Ohigashi M, Takenaka C, Tamura K, Nada S, Nishi T, Yamamoto A, Yamaguchi A | title = ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms | journal = Molecular and Cellular Biology | volume = 25 | issue = 10 | pages = 4138–49 | year = 2005 | pmid = 15870284 | pmc = 1087723 | doi = 10.1128/MCB.25.10.4138-4149.2005 }}
* {{cite journal | vauthors = Kubo Y, Sekiya S, Ohigashi M, Takenaka C, Tamura K, Nada S, Nishi T, Yamamoto A, Yamaguchi A | title = ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms | journal = Molecular and Cellular Biology | volume = 25 | issue = 10 | pages = 4138–49 | year = 2005 | pmid = 15870284 | pmc = 1087723 | doi = 10.1128/MCB.25.10.4138-4149.2005 }}
* {{cite journal | vauthors = Saini V, Hose CD, Monks A, Nagashima K, Han B, Newton DL, Millione A, Shah J, Hollingshead MG, Hite KM, Burkett MW, Delosh RM, Silvers TE, Scudiero DA, Shoemaker RH | title = Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma | journal = PLoS ONE | volume = 7 | issue = 8 | pages = e41401 | year = 2012 | pmid = 22870217 | pmc = 3411700 | doi = 10.1371/journal.pone.0041401 | bibcode = 2012PLoSO...741401S }}
* {{cite journal | vauthors = Saini V, Hose CD, Monks A, Nagashima K, Han B, Newton DL, Millione A, Shah J, Hollingshead MG, Hite KM, Burkett MW, Delosh RM, Silvers TE, Scudiero DA, Shoemaker RH | title = Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma | journal = PLoS ONE | volume = 7 | issue = 8 | pages = e41401 | year = 2012 | pmid = 22870217 | pmc = 3411700 | doi = 10.1371/journal.pone.0041401 | bibcode = 2012PLoSO...741401S }}
* {{cite journal | vauthors = Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T | title = Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor | journal = Biological & Pharmaceutical Bulletin | volume = 30 | issue = 6 | pages = 1144–6 | year = 2007 | pmid = 17541169 | doi = 10.1248/bpb.30.1144 }}
* {{cite journal | vauthors = Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T | title = Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor | journal = Biological & Pharmaceutical Bulletin | volume = 30 | issue = 6 | pages = 1144–6 | year = 2007 | pmid = 17541169 | doi = 10.1248/bpb.30.1144 }}
* {{cite journal | vauthors = Nagase T, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins | journal = DNA research : an international journal for rapid publication of reports on genes and genomes | volume = 8 | issue = 4 | pages = 179–87 | year = 2001 | pmid = 11572484 | doi = 10.1093/dnares/8.4.179 }}
* {{cite journal | vauthors = Nagase T, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins | journal = DNA Research | volume = 8 | issue = 4 | pages = 179–87 | year = 2001 | pmid = 11572484 | doi = 10.1093/dnares/8.4.179 }}
* {{cite journal | vauthors = Vásquez-Moctezuma I, Meraz-Ríos MA, Villanueva-López CG, Magaña M, Martínez-Macias R, Sánchez-González DJ, García-Sierra F, Herrera-González NE | title = ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma | journal = Actas dermo-sifiliograficas | volume = 101 | issue = 4 | pages = 341–8 | year = 2010 | pmid = 20487690 | doi = 10.1016/s1578-2190(10)70645-4 }}
* {{cite journal | vauthors = Vásquez-Moctezuma I, Meraz-Ríos MA, Villanueva-López CG, Magaña M, Martínez-Macias R, Sánchez-González DJ, García-Sierra F, Herrera-González NE | title = ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma | journal = Actas Dermo-sifiliograficas | volume = 101 | issue = 4 | pages = 341–8 | year = 2010 | pmid = 20487690 | doi = 10.1016/s1578-2190(10)70645-4 }}
* {{cite journal | vauthors = Petry F, Kotthaus A, Hirsch-Ernst KI | title = Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant | journal = Biochemical and Biophysical Research Communications | volume = 300 | issue = 2 | pages = 343–50 | year = 2003 | pmid = 12504089 | doi = 10.1016/s0006-291x(02)02827-9 }}
* {{cite journal | vauthors = Petry F, Kotthaus A, Hirsch-Ernst KI | title = Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant | journal = Biochemical and Biophysical Research Communications | volume = 300 | issue = 2 | pages = 343–50 | year = 2003 | pmid = 12504089 | doi = 10.1016/s0006-291x(02)02827-9 }}
* {{cite journal | vauthors = Allikmets R, Gerrard B, Hutchinson A, Dean M | title = Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1649–55 | year = 1996 | pmid = 8894702 | doi = 10.1093/hmg/5.10.1649 }}
* {{cite journal | vauthors = Allikmets R, Gerrard B, Hutchinson A, Dean M | title = Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1649–55 | year = 1996 | pmid = 8894702 | doi = 10.1093/hmg/5.10.1649 }}
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Latest revision as of 13:00, 23 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.[1]

Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecule across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].

Clinical significance

Mutations in ABCA5 cause excessive hair overgrowth .[2]

References

  1. ↑ "Entrez Gene: ATP-binding cassette, sub-family A (ABC1), member 5". Retrieved 2014-05-19.
  2. ↑ DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM (2014). "Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth". PLoS Genetics. 10 (5): e1004333. doi:10.1371/journal.pgen.1004333. PMC 4022463. PMID 24831815.

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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