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ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)

 ABCB6_HUMAN             Reviewed;         842 AA.
Q9NP58; O75542; Q49A66; Q59GQ5; Q6ZME6; Q96ME8; Q9HAQ6; Q9HAQ7;
21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
01-OCT-2000, sequence version 1.
22-NOV-2017, entry version 175.
RecName: Full=ATP-binding cassette sub-family B member 6, mitochondrial;
AltName: Full=Mitochondrial ABC transporter 3;
Short=Mt-ABC transporter 3;
AltName: Full=P-glycoprotein-related protein;
AltName: Full=Ubiquitously-expressed mammalian ABC half transporter;
Name=ABCB6; Synonyms=MTABC3, PRP, UMAT;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, TISSUE
SPECIFICITY, AND SUBCELLULAR LOCATION.
PubMed=10837493; DOI=10.1074/jbc.275.23.17536;
Mitsuhashi N., Miki T., Senbongi H., Yokoi N., Yano H., Miyazaki M.,
Nakajima N., Iwanaga T., Yokoyama Y., Shibata T., Seino S.;
"MTABC3, a novel mitochondrial ATP-binding cassette protein involved
in iron homeostasis.";
J. Biol. Chem. 275:17536-17540(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
[GENOMIC DNA] OF 1-229.
TISSUE=Colon, and Liver;
PubMed=11955620; DOI=10.1016/S0167-4781(01)00340-2;
Emadi-Konjin H.-P., Zhang H., Anandan V., Sun D., Schuetz J.D.,
Furuya K.N.;
"Isolation of a genomic clone containing the promoter region of the
human ATP binding cassette (ABC) transporter, ABCB6.";
Biochim. Biophys. Acta 1574:117-130(2002).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Hirsch-Ernst K.I., Schaefer A., Ernst B.-P., Schmitz-Salue C.,
Awuah D., Kahl G.F.;
"Subcellular localization of the ABC transporter umat.";
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 112-842 (ISOFORM 1).
TISSUE=Hepatoma, and Neuroepithelium;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
Ohara O., Nagase T., Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-842 (ISOFORM 1).
TISSUE=Brain;
Yu W., Gibbs R.A.;
Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
[8]
FUNCTION, DEVELOPMENTAL STAGE, INDUCTION BY CELLULAR PORPHYRINS,
SUBUNIT, SUBCELLULAR LOCATION, AND INTERACTION WITH HEMIN.
PubMed=17006453; DOI=10.1038/nature05125;
Krishnamurthy P.C., Du G., Fukuda Y., Sun D., Sampath J., Mercer K.E.,
Wang J., Sosa-Pineda B., Murti K.G., Schuetz J.D.;
"Identification of a mammalian mitochondrial porphyrin transporter.";
Nature 443:586-589(2006).
[9]
SUBCELLULAR LOCATION.
PubMed=17661442; DOI=10.1021/bi700015m;
Paterson J.K., Shukla S., Black C.M., Tachiwada T., Garfield S.,
Wincovitch S., Ernst D.N., Agadir A., Li X., Ambudkar S.V.,
Szakacs G., Akiyama S., Gottesman M.M.;
"Human ABCB6 localizes to both the outer mitochondrial membrane and
the plasma membrane.";
Biochemistry 46:9443-9452(2007).
[10]
SUBCELLULAR LOCATION.
PubMed=18279659; DOI=10.1016/j.bbrc.2008.02.027;
Tsuchida M., Emi Y., Kida Y., Sakaguchi M.;
"Human ABC transporter isoform B6 (ABCB6) localizes primarily in the
Golgi apparatus.";
Biochem. Biophys. Res. Commun. 369:369-375(2008).
[11]
SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS MCOPCB7 THR-57 AND
VAL-811, AND CHARACTERIZATION OF VARIANTS MCOPCB7 THR-57 AND VAL-811.
PubMed=22226084; DOI=10.1016/j.ajhg.2011.11.026;
Wang L., He F., Bu J., Liu X., Du W., Dong J., Cooney J.D.,
Dubey S.K., Shi Y., Gong B., Li J., McBride P.F., Jia Y., Lu F.,
Soltis K.A., Lin Y., Namburi P., Liang C., Sundaresan P., Paw B.H.,
Li D.Y., Phillips J.D., Yang Z.;
"ABCB6 mutations cause ocular coloboma.";
Am. J. Hum. Genet. 90:40-48(2012).
[12]
POLYMORPHISM, AND INVOLVEMENT IN LANGEREIS BLOOD GROUP SYSTEM.
PubMed=22246506; DOI=10.1038/ng.1069;
Helias V., Saison C., Ballif B.A., Peyrard T., Takahashi J.,
Takahashi H., Tanaka M., Deybach J.C., Puy H., Le Gall M., Sureau C.,
Pham B.N., Le Pennec P.Y., Tani Y., Cartron J.P., Arnaud L.;
"ABCB6 is dispensable for erythropoiesis and specifies the new blood
group system Langereis.";
Nat. Genet. 44:170-173(2012).
[13]
SUBCELLULAR LOCATION, INDUCTION, INVOLVEMENT IN PSHK2, AND VARIANTS
PSHK2 GLN-375 AND TRP-375.
PubMed=23180570; DOI=10.1002/ajh.23357;
Andolfo I., Alper S.L., Delaunay J., Auriemma C., Russo R., Asci R.,
Esposito M.R., Sharma A.K., Shmukler B.E., Brugnara C.,
De Franceschi L., Iolascon A.;
"Missense mutations in the ABCB6 transporter cause dominant familial
pseudohyperkalemia.";
Am. J. Hematol. 88:66-72(2013).
[14]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[15]
INVOLVEMENT IN PSHK2, AND VARIANT PSHK2 GLN-723.
PubMed=24947683; DOI=10.1111/trf.12757;
Bawazir W.M., Flatt J.F., Wallis J.P., Rendon A., Cardigan R.A.,
New H.V., Wiltshire M., Page L., Chapman C.E., Stewart G.W.,
Bruce L.J.;
"Familial pseudohyperkalemia in blood donors: a novel mutation with
implications for transfusion practice.";
Transfusion 54:3043-3050(2014).
[16]
STRUCTURE BY NMR OF 558-842 IN COMPLEX WITH ADP.
PubMed=16791740; DOI=10.1007/s10858-006-9000-6;
Kurashima-Ito K., Ikeya T., Senbongi H., Tochio H., Mikawa T.,
Shibata T., Ito Y.;
"Heteronuclear multidimensional NMR and homology modelling studies of
the C-terminal nucleotide-binding domain of the human mitochondrial
ABC transporter ABCB6.";
J. Biomol. NMR 35:53-71(2006).
[17]
X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 558-842 IN COMPLEXES WITH
ADP; ATP AND PHOSPHATE.
PubMed=20823549; DOI=10.1107/S0907444910028593;
Haffke M., Menzel A., Carius Y., Jahn D., Heinz D.W.;
"Structures of the nucleotide-binding domain of the human ABCB6
transporter and its complexes with nucleotides.";
Acta Crystallogr. D 66:979-987(2010).
[18]
VARIANT [LARGE SCALE ANALYSIS] GLY-69.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
[19]
VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579, AND CHARACTERIZATION OF
VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579.
PubMed=23519333; DOI=10.1038/jid.2013.145;
Zhang C., Li D., Zhang J., Chen X., Huang M., Archacki S., Tian Y.,
Ren W., Mei A., Zhang Q., Fang M., Su Z., Yin Y., Liu D., Chen Y.,
Cui X., Li C., Yang H., Wang Q., Wang J., Liu M., Deng Y.;
"Mutations in ABCB6 cause dyschromatosis universalis hereditaria.";
J. Invest. Dermatol. 133:2221-2228(2013).
[20]
VARIANT DUH3 LYS-555.
PubMed=24224009; DOI=10.1371/journal.pone.0079808;
Cui Y.X., Xia X.Y., Zhou Y., Gao L., Shang X.J., Ni T., Wang W.P.,
Fan X.B., Yin H.L., Jiang S.J., Yao B., Hu Y.A., Wang G., Li X.J.;
"Novel mutations of ABCB6 associated with autosomal dominant
dyschromatosis universalis hereditaria.";
PLoS ONE 8:E79808-E79808(2013).
[21]
VARIANTS DUH3 ARG-322 AND HIS-424.
PubMed=25288164; DOI=10.1016/j.jdermsci.2014.08.015;
Lu C., Liu J., Liu F., Liu Y., Ma D., Zhang X.;
"Novel missense mutations of ABCB6 in two chinese families with
dyschromatosis universalis hereditaria.";
J. Dermatol. Sci. 76:255-258(2014).
[22]
VARIANT DUH3 VAL-453.
PubMed=24498303; DOI=10.1371/journal.pone.0087250;
Liu H., Li Y., Hung K.K., Wang N., Wang C., Chen X., Sheng D., Fu X.,
See K., Foo J.N., Low H., Liany H., Irwan I.D., Liu J., Yang B.,
Chen M., Yu Y., Yu G., Niu G., You J., Zhou Y., Ma S., Wang T.,
Yan X., Goh B.K., Common J.E., Lane B.E., Sun Y., Zhou G., Lu X.,
Wang Z., Tian H., Cao Y., Chen S., Liu Q., Liu J., Zhang F.;
"Genome-wide linkage, exome sequencing and functional analyses
identify ABCB6 as the pathogenic gene of dyschromatosis universalis
hereditaria.";
PLoS ONE 9:E87250-E87250(2014).
-!- 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}.
-!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:16791740,
ECO:0000269|PubMed:17006453}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17661442,
ECO:0000269|PubMed:23180570}; Multi-pass membrane protein
{ECO:0000255}. Mitochondrion outer membrane
{ECO:0000269|PubMed:17006453, ECO:0000269|PubMed:17661442,
ECO:0000305|PubMed:10837493}; Multi-pass membrane protein
{ECO:0000255}. Endoplasmic reticulum membrane
{ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:22226084}; Multi-
pass membrane protein {ECO:0000255}. Golgi apparatus membrane
{ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:22226084}; Multi-
pass membrane protein {ECO:0000255}. Endosome membrane
{ECO:0000250|UniProtKB:Q9DC29}; Multi-pass membrane protein
{ECO:0000255}. Note=localized to the endosome-like compartement
and dendrite tips. {ECO:0000250|UniProtKB:Q9DC29}.
-!- 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};
-!- TISSUE SPECIFICITY: Widely expressed. High expression is detected
in the retinal epithelium. {ECO:0000269|PubMed:10837493,
ECO:0000269|PubMed:22226084}.
-!- DEVELOPMENTAL STAGE: Highly expressed in fetal liver.
{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}.
-!- 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.
{ECO:0000269|PubMed:22246506}.
-!- 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: 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,
ECO:0000269|PubMed:25288164}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Pseudohyperkalemia, familial, 2, due to red cell leak
(PSHK2) [MIM:609153]: 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.
{ECO:0000269|PubMed:23180570, ECO:0000269|PubMed:24947683}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Depletion of Abcb6 by RNAi abrogates heme
biosynthesis. Overexpression enhances porphyrin biosynthesis.
-!- SIMILARITY: Belongs to the ABC transporter superfamily. ABCB
family. Heavy Metal importer (TC 3.A.1.210) subfamily.
{ECO:0000305}.
-!- 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};
-!- WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC
proteins;
URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP58";
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EMBL; AB039371; BAA96733.1; -; Genomic_DNA.
EMBL; AF076775; AAF75107.1; -; mRNA.
EMBL; AF308472; AAG33617.1; ALT_INIT; mRNA.
EMBL; AF308473; AAG33618.1; ALT_INIT; Genomic_DNA.
EMBL; AJ289233; CAB95766.2; -; mRNA.
EMBL; AK057026; BAB71347.1; ALT_SEQ; mRNA.
EMBL; AK172812; BAD18782.1; ALT_SEQ; mRNA.
EMBL; AB209054; BAD92291.1; ALT_SEQ; mRNA.
EMBL; BC000559; AAH00559.1; -; mRNA.
EMBL; BC043423; AAH43423.1; ALT_SEQ; mRNA.
EMBL; AF070598; AAC28653.1; -; mRNA.
CCDS; CCDS2436.1; -. [Q9NP58-1]
RefSeq; NP_005680.1; NM_005689.2. [Q9NP58-1]
UniGene; Hs.107911; -.
PDB; 3NH6; X-ray; 2.00 A; A=558-842.
PDB; 3NH9; X-ray; 2.10 A; A=558-842.
PDB; 3NHA; X-ray; 2.10 A; A=558-842.
PDB; 3NHB; X-ray; 2.15 A; A=558-842.
PDBsum; 3NH6; -.
PDBsum; 3NH9; -.
PDBsum; 3NHA; -.
PDBsum; 3NHB; -.
ProteinModelPortal; Q9NP58; -.
SMR; Q9NP58; -.
BioGrid; 115369; 23.
IntAct; Q9NP58; 5.
MINT; MINT-3071268; -.
STRING; 9606.ENSP00000265316; -.
BindingDB; Q9NP58; -.
ChEMBL; CHEMBL2007630; -.
TCDB; 3.A.1.210.6; the atp-binding cassette (abc) superfamily.
iPTMnet; Q9NP58; -.
PhosphoSitePlus; Q9NP58; -.
SwissPalm; Q9NP58; -.
BioMuta; ABCB6; -.
DMDM; 13123949; -.
EPD; Q9NP58; -.
MaxQB; Q9NP58; -.
PaxDb; Q9NP58; -.
PeptideAtlas; Q9NP58; -.
PRIDE; Q9NP58; -.
DNASU; 10058; -.
Ensembl; ENST00000265316; ENSP00000265316; ENSG00000115657. [Q9NP58-1]
GeneID; 10058; -.
KEGG; hsa:10058; -.
UCSC; uc002vkc.3; human. [Q9NP58-1]
CTD; 10058; -.
DisGeNET; 10058; -.
EuPathDB; HostDB:ENSG00000115657.12; -.
GeneCards; ABCB6; -.
HGNC; HGNC:47; ABCB6.
HPA; HPA046723; -.
HPA; HPA058011; -.
MalaCards; ABCB6; -.
MIM; 111600; phenotype.
MIM; 605452; gene.
MIM; 609153; phenotype.
MIM; 614497; phenotype.
MIM; 615402; phenotype.
neXtProt; NX_Q9NP58; -.
OpenTargets; ENSG00000115657; -.
Orphanet; 98938; Colobomatous microphthalmia.
Orphanet; 241; Dyschromatosis universalis.
Orphanet; 194; Ocular coloboma.
PharmGKB; PA24388; -.
eggNOG; KOG0057; Eukaryota.
eggNOG; COG5265; LUCA.
GeneTree; ENSGT00440000033373; -.
HOVERGEN; HBG080810; -.
InParanoid; Q9NP58; -.
KO; K05661; -.
OMA; IVDRGTS; -.
OrthoDB; EOG091G02G4; -.
PhylomeDB; Q9NP58; -.
TreeFam; TF105194; -.
Reactome; R-HSA-1369007; Mitochondrial ABC transporters.
Reactome; R-HSA-5683371; Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7).
ChiTaRS; ABCB6; human.
EvolutionaryTrace; Q9NP58; -.
GeneWiki; ABCB6; -.
GenomeRNAi; 10058; -.
PRO; PR:Q9NP58; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000115657; -.
CleanEx; HS_ABCB6; -.
ExpressionAtlas; Q9NP58; baseline and differential.
Genevisible; Q9NP58; HS.
GO; GO:0043190; C:ATP-binding cassette (ABC) transporter complex; NAS:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
GO; GO:0005768; C:endosome; ISS:UniProtKB.
GO; GO:0010008; C:endosome membrane; IEA:UniProtKB-SubCell.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
GO; GO:0031307; C:integral component of mitochondrial outer membrane; IDA:UniProtKB.
GO; GO:0005740; C:mitochondrial envelope; IDA:MGI.
GO; GO:0005741; C:mitochondrial outer membrane; IDA:UniProtKB.
GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0005524; F:ATP binding; IDA:MGI.
GO; GO:0015562; F:efflux transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0020037; F:heme binding; IDA:UniProtKB.
GO; GO:0015232; F:heme transporter activity; TAS:Reactome.
GO; GO:0015439; F:heme-transporting ATPase activity; IMP:UniProtKB.
GO; GO:0007420; P:brain development; IMP:UniProtKB.
GO; GO:0006879; P:cellular iron ion homeostasis; NAS:UniProtKB.
GO; GO:0015886; P:heme transport; IDA:UniProtKB.
GO; GO:0006779; P:porphyrin-containing compound biosynthetic process; IDA:UniProtKB.
GO; GO:0043588; P:skin development; IMP:UniProtKB.
GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
GO; GO:0006810; P:transport; IDA:MGI.
Gene3D; 1.20.1560.10; -; 1.
InterPro; IPR003593; AAA+_ATPase.
InterPro; IPR011527; ABC1_TM_dom.
InterPro; IPR036640; ABC1_TM_sf.
InterPro; IPR003439; ABC_transporter-like.
InterPro; IPR017871; ABC_transporter_CS.
InterPro; IPR032410; MTABC_N.
InterPro; IPR027417; P-loop_NTPase.
Pfam; PF00664; ABC_membrane; 1.
Pfam; PF00005; ABC_tran; 1.
Pfam; PF16185; MTABC_N; 1.
SMART; SM00382; AAA; 1.
SUPFAM; SSF52540; SSF52540; 1.
SUPFAM; SSF90123; SSF90123; 1.
PROSITE; PS50929; ABC_TM1F; 1.
PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
PROSITE; PS50893; ABC_TRANSPORTER_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; ATP-binding; Cell membrane;
Complete proteome; Disease mutation; Dyskeratosis congenita;
Endoplasmic reticulum; Endosome; Golgi apparatus; Membrane;
Microphthalmia; Mitochondrion; Mitochondrion outer membrane;
Nucleotide-binding; Polymorphism; Reference proteome; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 842 ATP-binding cassette sub-family B member
6, mitochondrial.
/FTId=PRO_0000000248.
TRANSMEM 27 47 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 73 93 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 107 127 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 148 168 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 186 206 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 265 285 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 376 396 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 409 431 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 502 522 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TRANSMEM 530 550 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
DOMAIN 265 556 ABC transmembrane type-1.
{ECO:0000255|PROSITE-ProRule:PRU00441}.
DOMAIN 590 824 ABC transporter. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
NP_BIND 623 634 ATP.
BINDING 599 599 ATP.
VAR_SEQ 183 228 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_021973.
VARIANT 57 57 A -> T (in MCOPCB7; unknown pathological
significance; hypomorphic mutation;
dbSNP:rs387906911).
{ECO:0000269|PubMed:22226084}.
/FTId=VAR_067394.
VARIANT 69 69 R -> G (in a breast cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_035732.
VARIANT 170 170 S -> G (in DUH3; the protein is retained
in the Golgi apparatus;
dbSNP:rs397514757).
{ECO:0000269|PubMed:23519333}.
/FTId=VAR_070602.
VARIANT 293 293 L -> V (in dbSNP:rs13018440).
/FTId=VAR_047552.
VARIANT 322 322 S -> R (in DUH3).
{ECO:0000269|PubMed:25288164}.
/FTId=VAR_073973.
VARIANT 343 343 R -> Q (in dbSNP:rs60322991).
/FTId=VAR_060986.
VARIANT 356 356 L -> P (in DUH3; the protein is retained
in the Golgi apparatus;
dbSNP:rs397514756).
{ECO:0000269|PubMed:23519333}.
/FTId=VAR_070603.
VARIANT 375 375 R -> Q (in PSHK2; dbSNP:rs754667801).
{ECO:0000269|PubMed:23180570}.
/FTId=VAR_071133.
VARIANT 375 375 R -> W (in PSHK2; dbSNP:rs764893806).
{ECO:0000269|PubMed:23180570}.
/FTId=VAR_071134.
VARIANT 424 424 Y -> H (in DUH3).
{ECO:0000269|PubMed:25288164}.
/FTId=VAR_073974.
VARIANT 453 453 A -> V (in DUH3).
{ECO:0000269|PubMed:24498303}.
/FTId=VAR_071135.
VARIANT 555 555 Q -> K (in DUH3; dbSNP:rs796065353).
{ECO:0000269|PubMed:24224009}.
/FTId=VAR_071136.
VARIANT 579 579 G -> E (in DUH3; the protein is retained
in the Golgi apparatus;
dbSNP:rs397514758).
{ECO:0000269|PubMed:23519333}.
/FTId=VAR_070604.
VARIANT 648 648 R -> Q (in dbSNP:rs13402964).
/FTId=VAR_029749.
VARIANT 723 723 R -> Q (in PSHK2; dbSNP:rs148211042).
{ECO:0000269|PubMed:24947683}.
/FTId=VAR_076206.
VARIANT 811 811 L -> V (in MCOPCB7; hypomorphic mutation;
dbSNP:rs387906910).
{ECO:0000269|PubMed:22226084}.
/FTId=VAR_067395.
CONFLICT 170 170 S -> N (in Ref. 2; AAG33618).
{ECO:0000305}.
CONFLICT 320 320 T -> S (in Ref. 4; BAD18782).
{ECO:0000305}.
CONFLICT 413 413 F -> S (in Ref. 4; BAD18782).
{ECO:0000305}.
CONFLICT 616 616 G -> E (in Ref. 4; BAD18782).
{ECO:0000305}.
CONFLICT 638 638 R -> L (in Ref. 4; BAD18782).
{ECO:0000305}.
HELIX 561 572 {ECO:0000244|PDB:3NH6}.
STRAND 590 600 {ECO:0000244|PDB:3NH6}.
STRAND 604 613 {ECO:0000244|PDB:3NH6}.
STRAND 618 625 {ECO:0000244|PDB:3NH6}.
HELIX 628 636 {ECO:0000244|PDB:3NH6}.
STRAND 643 649 {ECO:0000244|PDB:3NH6}.
HELIX 654 656 {ECO:0000244|PDB:3NH9}.
HELIX 659 664 {ECO:0000244|PDB:3NH6}.
STRAND 666 669 {ECO:0000244|PDB:3NH6}.
STRAND 677 679 {ECO:0000244|PDB:3NH6}.
HELIX 680 685 {ECO:0000244|PDB:3NH6}.
HELIX 693 702 {ECO:0000244|PDB:3NH6}.
HELIX 706 711 {ECO:0000244|PDB:3NH6}.
HELIX 715 717 {ECO:0000244|PDB:3NH6}.
STRAND 719 721 {ECO:0000244|PDB:3NH6}.
HELIX 729 743 {ECO:0000244|PDB:3NH6}.
STRAND 746 751 {ECO:0000244|PDB:3NH6}.
HELIX 759 773 {ECO:0000244|PDB:3NH6}.
STRAND 776 781 {ECO:0000244|PDB:3NH6}.
HELIX 785 789 {ECO:0000244|PDB:3NH6}.
STRAND 792 798 {ECO:0000244|PDB:3NH6}.
STRAND 801 806 {ECO:0000244|PDB:3NH6}.
HELIX 808 814 {ECO:0000244|PDB:3NH6}.
HELIX 817 826 {ECO:0000244|PDB:3NH6}.
SEQUENCE 842 AA; 93886 MW; E63A7D59DCE5B9ED CRC64;
MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC RRRERPAGAD
SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG APLPSYLLLA SVLESLAGAC
GLWLLVVERS QARQRLAMGI WIKFRHSPGL LLLWTVAFAA ENLALVSWNS PQWWWARADL
GQQVQFSLWV LRYVVSGGLF VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR
DFGRKLRLLS GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN
SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF SHLHELSLRW
HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII GIIYFSMFFN AWFGLIVFLC
MSLYLTLTIV VTEWRTKFRR AMNTQENATR ARAVDSLLNF ETVKYYNAES YEVERYREAI
IKYQGLEWKS SASLVLLNQT QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL
YMPLNWFGTY YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA
DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID GQDISQVTQA
SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA QAAGIHDAIM AFPEGYRTQV
GERGLKLSGG EKQRVAIART ILKAPGIILL DEATSALDTS NERAIQASLA KVCANRTTIV
VAHRLSTVVN ADQILVIKDG CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM
ER


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