ABCA5

ABCA5
Identifiers
Aliases	ABCA5, ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3
External IDs	OMIM: 612503; MGI: 2386607; HomoloGene: 10263; GeneCards: ABCA5; OMA:ABCA5 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	69,327,244 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	110,228,542 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; Achilles tendon; ; gastrocnemius muscle; ; cerebellar hemisphere; ; bronchial epithelial cell; ; right hemisphere of cerebellum; ; skin of thigh; ; right lobe of liver; ; jejunal mucosa; ; skin of abdomen;
	Top expressed in
	otolith organ; ; utricle; ; facial motor nucleus; ; olfactory epithelium; ; substantia nigra; ; seminal vesicula; ; pontine nuclei; ; spermatocyte; ; medial vestibular nucleus; ; Epithelium of choroid plexus;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; ATPase activity; ATP binding; lipid transporter activity; ATPase-coupled transmembrane transporter activity;
Cellular component	integral component of membrane; endosome; late endosome; Golgi apparatus; intracellular membrane-bounded organelle; late endosome membrane; membrane; Golgi membrane; lysosome; lysosomal membrane;
Biological process	lipid transport; high-density lipoprotein particle remodeling; cholesterol efflux; negative regulation of macrophage derived foam cell differentiation; reverse cholesterol transport; cholesterol transport; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	23461
	217265
	ENSG00000154265
	ENSMUSG00000018800
	Q8WWZ7
	Q8K448
	NM_172232; NM_018672
	NM_147219
	NP_061142; NP_758424
	NP_671752
	Wikidata
View/Edit Human	View/Edit Mouse

Cholesterol transporter ABCA5 is a protein that in humans is encoded by the ABCA5 gene.⁵

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. This encoded protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABCA family members on 17q24. 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.⁶

References

GRCh38: Ensembl release 89: ENSG00000154265 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000018800 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"ABCA5 ATP binding cassette subfamily A member 5 [ Homo sapiens (human) ]". Retrieved 2024-09-29.
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

Human ABCA5 genome location and ABCA5 gene details page in the UCSC Genome Browser.

Further reading

Hu Y, Wang M, Veverka K, Garcia FU, Stearns ME (2007). "The ABCA5 protein: A urine diagnostic marker for prostatic intraepithelial neoplasia". Clinical Cancer Research. 13 (3): 929–38. doi:10.1158/1078-0432.CCR-06-1718. PMID 17289887. S2CID 11849206.
Dean M, Rzhetsky A, Allikmets R (2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Research. 11 (7): 1156–66. doi:10.1101/gr.184901. PMID 11435397. S2CID 9528197.
Kubo Y, Sekiya S, Ohigashi M, Takenaka C, Tamura K, Nada S, Nishi T, Yamamoto A, Yamaguchi A (2005). "ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms". Molecular and Cellular Biology. 25 (10): 4138–49. doi:10.1128/MCB.25.10.4138-4149.2005. PMC 1087723. PMID 15870284.
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 (2012). "Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma". PLOS ONE. 7 (8) e41401. Bibcode:2012PLoSO...741401S. doi:10.1371/journal.pone.0041401. PMC 3411700. PMID 22870217.
Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T (2007). "Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor". Biological & Pharmaceutical Bulletin. 30 (6): 1144–6. doi:10.1248/bpb.30.1144. PMID 17541169.
Nagase T, Kikuno R, Ohara O (2001). "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". DNA Research. 8 (4): 179–87. doi:10.1093/dnares/8.4.179. PMID 11572484.
Vásquez-Moctezuma I, Meraz-Ríos MA, Villanueva-López CG, Magaña M, Martínez-Macias R, Sánchez-González DJ, García-Sierra F, Herrera-González NE (2010). "ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma". Actas Dermo-sifiliograficas. 101 (4): 341–8. doi:10.1016/s1578-2190(10)70645-4. PMID 20487690.
Petry F, Kotthaus A, Hirsch-Ernst KI (2003). "Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant". Biochemical and Biophysical Research Communications. 300 (2): 343–50. doi:10.1016/s0006-291x(02)02827-9. PMID 12504089.
Allikmets R, Gerrard B, Hutchinson A, Dean M (1996). "Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database". Human Molecular Genetics. 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000154265 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000018800 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "ABCA5 ATP binding cassette subfamily A member 5 [ Homo sapiens (human) ]". Retrieved 2024-09-29.

[6] 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.

1

2

3

4

5

6