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Q9NP58

- ABCB6_HUMAN

UniProt

Q9NP58 - ABCB6_HUMAN

Protein

ATP-binding cassette sub-family B member 6, mitochondrial

Gene

ABCB6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei599 – 5991ATP

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi623 – 63412ATPAdd
    BLAST

    GO - Molecular functioni

    1. ATP binding Source: MGI
    2. efflux transmembrane transporter activity Source: UniProtKB
    3. heme binding Source: UniProtKB
    4. heme transporter activity Source: Reactome
    5. heme-transporting ATPase activity Source: UniProtKB

    GO - Biological processi

    1. brain development Source: UniProtKB
    2. cellular iron ion homeostasis Source: UniProtKB
    3. heme transport Source: UniProtKB
    4. porphyrin-containing compound biosynthetic process Source: UniProtKB
    5. skin development Source: UniProtKB
    6. transmembrane transport Source: RefGenome
    7. transport Source: MGI

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111108. Mitochondrial ABC transporters.

    Protein family/group databases

    TCDBi3.A.1.210.6. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family B member 6, mitochondrial
    Alternative name(s):
    Mitochondrial ABC transporter 3
    Short name:
    Mt-ABC transporter 3
    P-glycoprotein-related protein
    Ubiquitously-expressed mammalian ABC half transporter
    Gene namesi
    Name:ABCB6
    Synonyms:MTABC3, PRP, UMAT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:47. ABCB6.

    Subcellular locationi

    Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Endosome By similarity
    Note: localized to the endosome-like compartement and dendrite tips.

    GO - Cellular componenti

    1. ATP-binding cassette (ABC) transporter complex Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB
    3. endosome Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt
    5. Golgi apparatus Source: UniProtKB
    6. integral component of mitochondrial outer membrane Source: UniProtKB
    7. mitochondrial envelope Source: MGI
    8. mitochondrial outer membrane Source: UniProtKB
    9. mitochondrion Source: UniProtKB
    10. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Involvement in diseasei

    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571A → T in MCOPCB7; hypomorphic mutation. 1 Publication
    VAR_067394
    Natural varianti811 – 8111L → V in MCOPCB7; hypomorphic mutation. 1 Publication
    VAR_067395
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti170 – 1701S → G in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070602
    Natural varianti356 – 3561L → P in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070603
    Natural varianti453 – 4531A → V in DUH3. 1 Publication
    VAR_071135
    Natural varianti555 – 5551Q → K in DUH3. 1 Publication
    VAR_071136
    Natural varianti579 – 5791G → E in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070604
    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).1 Publication

    Keywords - Diseasei

    Disease mutation, Dyskeratosis congenita, Microphthalmia

    Organism-specific databases

    MIMi111600. phenotype.
    614497. phenotype.
    615402. phenotype.
    Orphaneti98938. Colobomatous microphthalmia.
    241. Dyschromatosis universalis.
    194. Ocular coloboma.
    PharmGKBiPA24388.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 842842ATP-binding cassette sub-family B member 6, mitochondrialPRO_0000000248Add
    BLAST

    Proteomic databases

    MaxQBiQ9NP58.
    PaxDbiQ9NP58.
    PRIDEiQ9NP58.

    PTM databases

    PhosphoSiteiQ9NP58.

    Expressioni

    Tissue specificityi

    Widely expressed. High expression is detected in the retinal epithelium.2 Publications

    Developmental stagei

    Highly expressed in fetal liver.1 Publication

    Inductioni

    Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level).2 Publications

    Gene expression databases

    BgeeiQ9NP58.
    CleanExiHS_ABCB6.
    GenevestigatoriQ9NP58.

    Organism-specific databases

    HPAiHPA046723.

    Interactioni

    Subunit structurei

    Homodimer.2 Publications

    Protein-protein interaction databases

    BioGridi115369. 6 interactions.
    IntActiQ9NP58. 3 interactions.
    MINTiMINT-3071268.
    STRINGi9606.ENSP00000265316.

    Structurei

    Secondary structure

    1
    842
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi561 – 57212
    Beta strandi590 – 60011
    Beta strandi604 – 61310
    Beta strandi618 – 6258
    Helixi628 – 6369
    Beta strandi643 – 6497
    Helixi654 – 6563
    Helixi659 – 6646
    Beta strandi666 – 6694
    Beta strandi677 – 6793
    Helixi680 – 6856
    Helixi693 – 70210
    Helixi706 – 7116
    Helixi715 – 7173
    Beta strandi719 – 7213
    Helixi729 – 74315
    Beta strandi746 – 7516
    Helixi759 – 77315
    Beta strandi776 – 7816
    Helixi785 – 7895
    Beta strandi792 – 7987
    Beta strandi801 – 8066
    Helixi808 – 8147
    Helixi817 – 82610

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3NH6X-ray2.00A558-842[»]
    3NH9X-ray2.10A558-842[»]
    3NHAX-ray2.10A558-842[»]
    3NHBX-ray2.15A558-842[»]
    ProteinModelPortaliQ9NP58.
    SMRiQ9NP58. Positions 234-833.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NP58.

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei27 – 4721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei73 – 9321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei107 – 12721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei148 – 16821HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei186 – 20621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei265 – 28521HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei376 – 39621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei409 – 43123HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei502 – 52221HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei530 – 55021HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini265 – 556292ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini590 – 824235ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5265.
    HOVERGENiHBG080810.
    InParanoidiQ9NP58.
    KOiK05661.
    OMAiKPQTMER.
    OrthoDBiEOG7Z69BT.
    PhylomeDBiQ9NP58.
    TreeFamiTF105194.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NP58-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC    50
    RRRERPAGAD SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG 100
    APLPSYLLLA SVLESLAGAC GLWLLVVERS QARQRLAMGI WIKFRHSPGL 150
    LLLWTVAFAA ENLALVSWNS PQWWWARADL GQQVQFSLWV LRYVVSGGLF 200
    VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR DFGRKLRLLS 250
    GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN 300
    SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF 350
    SHLHELSLRW HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII 400
    GIIYFSMFFN AWFGLIVFLC MSLYLTLTIV VTEWRTKFRR AMNTQENATR 450
    ARAVDSLLNF ETVKYYNAES YEVERYREAI IKYQGLEWKS SASLVLLNQT 500
    QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL YMPLNWFGTY 550
    YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA 600
    DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID 650
    GQDISQVTQA SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA 700
    QAAGIHDAIM AFPEGYRTQV GERGLKLSGG EKQRVAIART ILKAPGIILL 750
    DEATSALDTS NERAIQASLA KVCANRTTIV VAHRLSTVVN ADQILVIKDG 800
    CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM ER 842
    Length:842
    Mass (Da):93,886
    Last modified:October 1, 2000 - v1
    Checksum:iE63A7D59DCE5B9ED
    GO
    Isoform 2 (identifier: Q9NP58-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         183-228: Missing.

    Show »
    Length:796
    Mass (Da):88,600
    Checksum:iA72DFA31D8C77FFE
    GO

    Sequence cautioni

    The sequence AAH43423.1 differs from that shown. Reason: Intron retention.
    The sequence BAD92291.1 differs from that shown. Reason: Chimeric cDNA.
    Isoform 2 : The sequence BAB71347.1 differs from that shown. Reason: splicing through aberrant splice sites
    The sequence AAG33617.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAG33618.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAD18782.1 differs from that shown. Reason: Erroneous termination at position 168. Translated as Trp.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti170 – 1701S → N in AAG33618. (PubMed:11955620)Curated
    Sequence conflicti320 – 3201T → S in BAD18782. (PubMed:14702039)Curated
    Sequence conflicti413 – 4131F → S in BAD18782. (PubMed:14702039)Curated
    Sequence conflicti616 – 6161G → E in BAD18782. (PubMed:14702039)Curated
    Sequence conflicti638 – 6381R → L in BAD18782. (PubMed:14702039)Curated

    Polymorphismi

    Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIMi: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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571A → T in MCOPCB7; hypomorphic mutation. 1 Publication
    VAR_067394
    Natural varianti69 – 691R → G in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035732
    Natural varianti170 – 1701S → G in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070602
    Natural varianti293 – 2931L → V.
    Corresponds to variant rs13018440 [ dbSNP | Ensembl ].
    VAR_047552
    Natural varianti343 – 3431R → Q.
    Corresponds to variant rs60322991 [ dbSNP | Ensembl ].
    VAR_060986
    Natural varianti356 – 3561L → P in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070603
    Natural varianti375 – 3751R → Q Probable disease-associated mutation found in patients with familial pseudohyperkalemia. 1 Publication
    VAR_071133
    Natural varianti375 – 3751R → W Probable disease-associated mutation found in patients with familial pseudohyperkalemia. 1 Publication
    VAR_071134
    Natural varianti453 – 4531A → V in DUH3. 1 Publication
    VAR_071135
    Natural varianti555 – 5551Q → K in DUH3. 1 Publication
    VAR_071136
    Natural varianti579 – 5791G → E in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
    VAR_070604
    Natural varianti648 – 6481R → Q.
    Corresponds to variant rs13402964 [ dbSNP | Ensembl ].
    VAR_029749
    Natural varianti811 – 8111L → V in MCOPCB7; hypomorphic mutation. 1 Publication
    VAR_067395

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei183 – 22846Missing in isoform 2. 1 PublicationVSP_021973Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB039371 Genomic DNA. Translation: BAA96733.1.
    AF076775 mRNA. Translation: AAF75107.1.
    AF308472 mRNA. Translation: AAG33617.1. Different initiation.
    AF308473 Genomic DNA. Translation: AAG33618.1. Different initiation.
    AJ289233 mRNA. Translation: CAB95766.2.
    AK057026 mRNA. Translation: BAB71347.1. Sequence problems.
    AK172812 mRNA. Translation: BAD18782.1. Sequence problems.
    AB209054 mRNA. Translation: BAD92291.1. Sequence problems.
    BC000559 mRNA. Translation: AAH00559.1.
    BC043423 mRNA. Translation: AAH43423.1. Sequence problems.
    AF070598 mRNA. Translation: AAC28653.1.
    CCDSiCCDS2436.1. [Q9NP58-1]
    RefSeqiNP_005680.1. NM_005689.2. [Q9NP58-1]
    UniGeneiHs.107911.

    Genome annotation databases

    EnsembliENST00000265316; ENSP00000265316; ENSG00000115657. [Q9NP58-1]
    GeneIDi10058.
    KEGGihsa:10058.
    UCSCiuc002vkc.2. human. [Q9NP58-1]
    uc010fwe.2. human. [Q9NP58-4]

    Polymorphism databases

    DMDMi13123949.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB039371 Genomic DNA. Translation: BAA96733.1 .
    AF076775 mRNA. Translation: AAF75107.1 .
    AF308472 mRNA. Translation: AAG33617.1 . Different initiation.
    AF308473 Genomic DNA. Translation: AAG33618.1 . Different initiation.
    AJ289233 mRNA. Translation: CAB95766.2 .
    AK057026 mRNA. Translation: BAB71347.1 . Sequence problems.
    AK172812 mRNA. Translation: BAD18782.1 . Sequence problems.
    AB209054 mRNA. Translation: BAD92291.1 . Sequence problems.
    BC000559 mRNA. Translation: AAH00559.1 .
    BC043423 mRNA. Translation: AAH43423.1 . Sequence problems.
    AF070598 mRNA. Translation: AAC28653.1 .
    CCDSi CCDS2436.1. [Q9NP58-1 ]
    RefSeqi NP_005680.1. NM_005689.2. [Q9NP58-1 ]
    UniGenei Hs.107911.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3NH6 X-ray 2.00 A 558-842 [» ]
    3NH9 X-ray 2.10 A 558-842 [» ]
    3NHA X-ray 2.10 A 558-842 [» ]
    3NHB X-ray 2.15 A 558-842 [» ]
    ProteinModelPortali Q9NP58.
    SMRi Q9NP58. Positions 234-833.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115369. 6 interactions.
    IntActi Q9NP58. 3 interactions.
    MINTi MINT-3071268.
    STRINGi 9606.ENSP00000265316.

    Chemistry

    BindingDBi Q9NP58.
    ChEMBLi CHEMBL2007630.

    Protein family/group databases

    TCDBi 3.A.1.210.6. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9NP58.

    Polymorphism databases

    DMDMi 13123949.

    Proteomic databases

    MaxQBi Q9NP58.
    PaxDbi Q9NP58.
    PRIDEi Q9NP58.

    Protocols and materials databases

    DNASUi 10058.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265316 ; ENSP00000265316 ; ENSG00000115657 . [Q9NP58-1 ]
    GeneIDi 10058.
    KEGGi hsa:10058.
    UCSCi uc002vkc.2. human. [Q9NP58-1 ]
    uc010fwe.2. human. [Q9NP58-4 ]

    Organism-specific databases

    CTDi 10058.
    GeneCardsi GC02M220038.
    HGNCi HGNC:47. ABCB6.
    HPAi HPA046723.
    MIMi 111600. phenotype.
    605452. gene.
    614497. phenotype.
    615402. phenotype.
    neXtProti NX_Q9NP58.
    Orphaneti 98938. Colobomatous microphthalmia.
    241. Dyschromatosis universalis.
    194. Ocular coloboma.
    PharmGKBi PA24388.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5265.
    HOVERGENi HBG080810.
    InParanoidi Q9NP58.
    KOi K05661.
    OMAi KPQTMER.
    OrthoDBi EOG7Z69BT.
    PhylomeDBi Q9NP58.
    TreeFami TF105194.

    Enzyme and pathway databases

    Reactomei REACT_111108. Mitochondrial ABC transporters.

    Miscellaneous databases

    ChiTaRSi ABCB6. human.
    EvolutionaryTracei Q9NP58.
    GeneWikii ABCB6.
    GenomeRNAii 10058.
    NextBioi 38003.
    PROi Q9NP58.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NP58.
    CleanExi HS_ABCB6.
    Genevestigatori Q9NP58.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis."
      Mitsuhashi N., Miki T., Senbongi H., Yokoi N., Yano H., Miyazaki M., Nakajima N., Iwanaga T., Yokoyama Y., Shibata T., Seino S.
      J. Biol. Chem. 275:17536-17540(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    2. "Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6."
      Emadi-Konjin H.-P., Zhang H., Anandan V., Sun D., Schuetz J.D., Furuya K.N.
      Biochim. Biophys. Acta 1574:117-130(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-229.
      Tissue: Colon and Liver.
    3. "Subcellular localization of the ABC transporter umat."
      Hirsch-Ernst K.I., Schaefer A., Ernst B.-P., Schmitz-Salue C., Awuah D., Kahl G.F.
      Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 112-842 (ISOFORM 1).
      Tissue: Hepatoma and Neuroepithelium.
    5. 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
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. Yu W., Gibbs R.A.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-842 (ISOFORM 1).
      Tissue: Brain.
    8. Cited for: FUNCTION, DEVELOPMENTAL STAGE, INDUCTION BY CELLULAR PORPHYRINS, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH HEMIN.
    9. Cited for: SUBCELLULAR LOCATION.
    10. "Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus."
      Tsuchida M., Emi Y., Kida Y., Sakaguchi M.
      Biochem. Biophys. Res. Commun. 369:369-375(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    11. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS MCOPCB7 THR-57 AND VAL-811, CHARACTERIZATION OF VARIANTS MCOPCB7 THR-57 AND VAL-811.
    12. Cited for: INVOLVEMENT IN LANGEREIS BLOOD GROUP SYSTEM.
    13. Cited for: SUBCELLULAR LOCATION, INDUCTION, VARIANTS GLN-375 AND TRP-375, INVOLVEMENT IN FAMILIAL PSEUDOHYPERKALEMIA.
    14. "Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6."
      Kurashima-Ito K., Ikeya T., Senbongi H., Tochio H., Mikawa T., Shibata T., Ito Y.
      J. Biomol. NMR 35:53-71(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 558-842 IN COMPLEX WITH ADP.
    15. "Structures of the nucleotide-binding domain of the human ABCB6 transporter and its complexes with nucleotides."
      Haffke M., Menzel A., Carius Y., Jahn D., Heinz D.W.
      Acta Crystallogr. D 66:979-987(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 558-842 IN COMPLEXES WITH ADP; ATP AND PHOSPHATE.
    16. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-69.
    17. Cited for: VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579, CHARACTERIZATION OF VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579.
    18. "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
      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.
      PLoS ONE 8:E79808-E79808(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DUH3 LYS-555.
    19. "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
      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.
      PLoS ONE 9:E87250-E87250(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DUH3 VAL-453.

    Entry informationi

    Entry nameiABCB6_HUMAN
    AccessioniPrimary (citable) accession number: Q9NP58
    Secondary accession number(s): O75542
    , Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6, Q9HAQ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 144 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3