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Q9NP58

- ABCB6_HUMAN

UniProt

Q9NP58 - ABCB6_HUMAN

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Protein
ATP-binding cassette sub-family B member 6, mitochondrial
Gene
ABCB6, MTABC3, PRP, UMAT
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 63412ATP
Add
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
Complete GO annotation...

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.5 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei27 – 4721Helical; Reviewed prediction
Add
BLAST
Transmembranei73 – 9321Helical; Reviewed prediction
Add
BLAST
Transmembranei107 – 12721Helical; Reviewed prediction
Add
BLAST
Transmembranei148 – 16821Helical; Reviewed prediction
Add
BLAST
Transmembranei186 – 20621Helical; Reviewed prediction
Add
BLAST
Transmembranei265 – 28521Helical; Reviewed prediction
Add
BLAST
Transmembranei376 – 39621Helical; Reviewed prediction
Add
BLAST
Transmembranei409 – 43123Helical; Reviewed prediction
Add
BLAST
Transmembranei502 – 52221Helical; Reviewed prediction
Add
BLAST
Transmembranei530 – 55021Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. ATP-binding cassette (ABC) transporter complex Source: UniProtKB
  2. Golgi apparatus Source: UniProtKB
  3. endoplasmic reticulum Source: UniProtKB
  4. endosome Source: UniProtKB
  5. extracellular vesicular exosome Source: UniProt
  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
Complete GO annotation...

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).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 varianti579 – 5791G → E in DUH3; the protein is retained in the Golgi apparatus. 1 Publication
VAR_070604

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, mitochondrial
PRO_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).1 Publication

Gene expression databases

BgeeiQ9NP58.
CleanExiHS_ABCB6.
GenevestigatoriQ9NP58.

Organism-specific databases

HPAiHPA046723.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

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

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiQ9NP58.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini265 – 556292ABC transmembrane type-1
Add
BLAST
Domaini590 – 824235ABC transporter
Add
BLAST

Sequence similaritiesi

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.

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 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.
VSP_021973Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti170 – 1701S → N in AAG33618. 1 Publication
Sequence conflicti320 – 3201T → S in BAD18782. 1 Publication
Sequence conflicti413 – 4131F → S in BAD18782. 1 Publication
Sequence conflicti616 – 6161G → E in BAD18782. 1 Publication
Sequence conflicti638 – 6381R → L in BAD18782. 1 Publication

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]
ENST00000439002; ENSP00000394333; ENSG00000115657. [Q9NP58-4]
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 ]
ENST00000439002 ; ENSP00000394333 ; ENSG00000115657 . [Q9NP58-4 ]
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

« Hide 'large scale' publications
  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. "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.
  14. "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.
  15. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-69.
  16. Cited for: VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579, CHARACTERIZATION OF VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579.

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: September 3, 2014
This is version 143 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

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