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MT000745

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
Protein Entry	ABCB6_HUMAN
UniProt ID	Q9NP58
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP58-1; Sequence=Displayed; Name=2; IsoId=Q9NP58-4; Sequence=VSP_021973; Note=Ref.4 (BAB71347) sequence differs from that shown due to splicing through aberrant splice sites. {ECO:0000305};
Developmental Stage	Highly expressed in fetal liver. {ECO:0000269\|PubMed:17006453}.
Disease	Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269\|PubMed:23519333, ECO:0000269\|PubMed:24224009, ECO:0000269\|PubMed:24498303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269\|PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269\|PubMed:23180570}.
Function	Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. {ECO:0000269\|PubMed:10837493, ECO:0000269\|PubMed:17006453}.
Induction	Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level). {ECO:0000269\|PubMed:17006453, ECO:0000269\|PubMed:23180570}.
Miscellaneous	Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.
Polymorphism	Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features.
Sequence Caution	Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
Similarity	Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO:0000305}.
Similarity	Contains 1 ABC transmembrane type-1 domain. {ECO:0000255\|PROSITE-ProRule:PRU00441}.
Similarity	Contains 1 ABC transporter domain. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Endosome {ECO:0000250}. Note=localized to the endosome- like compartement and dendrite tips.
Subunit	Homodimer. {ECO:0000269\|PubMed:16791740, ECO:0000269\|PubMed:17006453}.
Tissue Specificity	Widely expressed. High expression is detected in the retinal epithelium. {ECO:0000269\|PubMed:10837493, ECO:0000269\|PubMed:22226084}.
Web Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP58";