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Protein

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

Gene

ABCB6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Binding sitei599ATP1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi623 – 634ATPAdd BLAST12

GO - Molecular functioni

  • ATP binding Source: MGI
  • efflux transmembrane transporter activity Source: UniProtKB
  • heme binding Source: UniProtKB
  • heme transporter activity Source: Reactome
  • heme-transporting ATPase activity Source: UniProtKB

GO - Biological processi

  • brain development Source: UniProtKB
  • cellular iron ion homeostasis Source: UniProtKB
  • heme transport Source: UniProtKB
  • porphyrin-containing compound biosynthetic process Source: UniProtKB
  • skin development Source: UniProtKB
  • transmembrane transport Source: Reactome
  • transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS03923-MONOMER.
ReactomeiR-HSA-1369007. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:47. ABCB6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei27 – 47HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei73 – 93HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei107 – 127HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei148 – 168HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei186 – 206HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei265 – 285HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei376 – 396HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei409 – 431HelicalPROSITE-ProRule annotationAdd BLAST23
Transmembranei502 – 522HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei530 – 550HelicalPROSITE-ProRule annotationAdd BLAST21

GO - Cellular componenti

  • ATP-binding cassette (ABC) transporter complex Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • endosome Source: UniProtKB
  • endosome membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of mitochondrial outer membrane Source: UniProtKB
  • mitochondrial envelope Source: MGI
  • mitochondrial inner membrane Source: GO_Central
  • mitochondrial outer membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • 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)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614497
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06739457A → T in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant rs387906911dbSNPEnsembl.1
Natural variantiVAR_067395811L → V in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant rs387906910dbSNPEnsembl.1
Dyschromatosis universalis hereditaria 3 (DUH3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615402
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070602170S → G in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514757dbSNPEnsembl.1
Natural variantiVAR_073973322S → R in DUH3. 1 Publication1
Natural variantiVAR_070603356L → P in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514756dbSNPEnsembl.1
Natural variantiVAR_073974424Y → H in DUH3. 1 Publication1
Natural variantiVAR_071135453A → V in DUH3. 1 Publication1
Natural variantiVAR_071136555Q → K in DUH3. 1 PublicationCorresponds to variant rs796065353dbSNPEnsembl.1
Natural variantiVAR_070604579G → E in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514758dbSNPEnsembl.1
Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609153
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071133375R → Q in PSHK2. 1 PublicationCorresponds to variant rs754667801dbSNPEnsembl.1
Natural variantiVAR_071134375R → W in PSHK2. 1 PublicationCorresponds to variant rs764893806dbSNPEnsembl.1
Natural variantiVAR_076206723R → Q in PSHK2. 1 PublicationCorresponds to variant rs148211042dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita, Microphthalmia

Organism-specific databases

DisGeNETi10058.
MalaCardsiABCB6.
MIMi111600. phenotype.
609153. phenotype.
614497. phenotype.
615402. phenotype.
OpenTargetsiENSG00000115657.
Orphaneti98938. Colobomatous microphthalmia.
241. Dyschromatosis universalis.
194. Ocular coloboma.
PharmGKBiPA24388.

Chemistry databases

ChEMBLiCHEMBL2007630.

Polymorphism and mutation databases

BioMutaiABCB6.
DMDMi13123949.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000002481 – 842ATP-binding cassette sub-family B member 6, mitochondrialAdd BLAST842

Proteomic databases

EPDiQ9NP58.
MaxQBiQ9NP58.
PaxDbiQ9NP58.
PeptideAtlasiQ9NP58.
PRIDEiQ9NP58.

PTM databases

iPTMnetiQ9NP58.
PhosphoSitePlusiQ9NP58.
SwissPalmiQ9NP58.

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

BgeeiENSG00000115657.
CleanExiHS_ABCB6.
ExpressionAtlasiQ9NP58. baseline and differential.
GenevisibleiQ9NP58. HS.

Organism-specific databases

HPAiHPA046723.

Interactioni

Subunit structurei

Homodimer.2 Publications

Protein-protein interaction databases

BioGridi115369. 19 interactors.
IntActiQ9NP58. 5 interactors.
MINTiMINT-3071268.
STRINGi9606.ENSP00000265316.

Chemistry databases

BindingDBiQ9NP58.

Structurei

Secondary structure

1842
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi561 – 572Combined sources12
Beta strandi590 – 600Combined sources11
Beta strandi604 – 613Combined sources10
Beta strandi618 – 625Combined sources8
Helixi628 – 636Combined sources9
Beta strandi643 – 649Combined sources7
Helixi654 – 656Combined sources3
Helixi659 – 664Combined sources6
Beta strandi666 – 669Combined sources4
Beta strandi677 – 679Combined sources3
Helixi680 – 685Combined sources6
Helixi693 – 702Combined sources10
Helixi706 – 711Combined sources6
Helixi715 – 717Combined sources3
Beta strandi719 – 721Combined sources3
Helixi729 – 743Combined sources15
Beta strandi746 – 751Combined sources6
Helixi759 – 773Combined sources15
Beta strandi776 – 781Combined sources6
Helixi785 – 789Combined sources5
Beta strandi792 – 798Combined sources7
Beta strandi801 – 806Combined sources6
Helixi808 – 814Combined sources7
Helixi817 – 826Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NH6X-ray2.00A558-842[»]
3NH9X-ray2.10A558-842[»]
3NHAX-ray2.10A558-842[»]
3NHBX-ray2.15A558-842[»]
ProteinModelPortaliQ9NP58.
SMRiQ9NP58.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NP58.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini265 – 556ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST292
Domaini590 – 824ABC transporterPROSITE-ProRule annotationAdd BLAST235

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

eggNOGiKOG0057. Eukaryota.
COG5265. LUCA.
GeneTreeiENSGT00440000033373.
HOVERGENiHBG080810.
InParanoidiQ9NP58.
KOiK05661.
OMAiRISPYVL.
OrthoDBiEOG091G02G4.
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.
IPR032410. MTABC_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
PF16185. MTABC_N. 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. AlignAdd to basket

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

        10         20         30         40         50
MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC
60 70 80 90 100
RRRERPAGAD SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG
110 120 130 140 150
APLPSYLLLA SVLESLAGAC GLWLLVVERS QARQRLAMGI WIKFRHSPGL
160 170 180 190 200
LLLWTVAFAA ENLALVSWNS PQWWWARADL GQQVQFSLWV LRYVVSGGLF
210 220 230 240 250
VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR DFGRKLRLLS
260 270 280 290 300
GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN
310 320 330 340 350
SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF
360 370 380 390 400
SHLHELSLRW HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII
410 420 430 440 450
GIIYFSMFFN AWFGLIVFLC MSLYLTLTIV VTEWRTKFRR AMNTQENATR
460 470 480 490 500
ARAVDSLLNF ETVKYYNAES YEVERYREAI IKYQGLEWKS SASLVLLNQT
510 520 530 540 550
QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL YMPLNWFGTY
560 570 580 590 600
YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA
610 620 630 640 650
DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID
660 670 680 690 700
GQDISQVTQA SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA
710 720 730 740 750
QAAGIHDAIM AFPEGYRTQV GERGLKLSGG EKQRVAIART ILKAPGIILL
760 770 780 790 800
DEATSALDTS NERAIQASLA KVCANRTTIV VAHRLSTVVN ADQILVIKDG
810 820 830 840
CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM ER
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 AAG33617 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAG33618 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH43423 differs from that shown. Intron retention.Curated
Isoform 2 : The sequence BAB71347 differs from that shown. splicing through aberrant splice sitesCurated
The sequence BAD18782 differs from that shown. Reason: Erroneous termination at position 168. Translated as Trp.Curated
The sequence BAD92291 differs from that shown. Chimeric cDNA.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti170S → N in AAG33618 (PubMed:11955620).Curated1
Sequence conflicti320T → S in BAD18782 (PubMed:14702039).Curated1
Sequence conflicti413F → S in BAD18782 (PubMed:14702039).Curated1
Sequence conflicti616G → E in BAD18782 (PubMed:14702039).Curated1
Sequence conflicti638R → L in BAD18782 (PubMed:14702039).Curated1

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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06739457A → T in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant rs387906911dbSNPEnsembl.1
Natural variantiVAR_03573269R → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_070602170S → G in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514757dbSNPEnsembl.1
Natural variantiVAR_047552293L → V.Corresponds to variant rs13018440dbSNPEnsembl.1
Natural variantiVAR_073973322S → R in DUH3. 1 Publication1
Natural variantiVAR_060986343R → Q.Corresponds to variant rs60322991dbSNPEnsembl.1
Natural variantiVAR_070603356L → P in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514756dbSNPEnsembl.1
Natural variantiVAR_071133375R → Q in PSHK2. 1 PublicationCorresponds to variant rs754667801dbSNPEnsembl.1
Natural variantiVAR_071134375R → W in PSHK2. 1 PublicationCorresponds to variant rs764893806dbSNPEnsembl.1
Natural variantiVAR_073974424Y → H in DUH3. 1 Publication1
Natural variantiVAR_071135453A → V in DUH3. 1 Publication1
Natural variantiVAR_071136555Q → K in DUH3. 1 PublicationCorresponds to variant rs796065353dbSNPEnsembl.1
Natural variantiVAR_070604579G → E in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant rs397514758dbSNPEnsembl.1
Natural variantiVAR_029749648R → Q.Corresponds to variant rs13402964dbSNPEnsembl.1
Natural variantiVAR_076206723R → Q in PSHK2. 1 PublicationCorresponds to variant rs148211042dbSNPEnsembl.1
Natural variantiVAR_067395811L → V in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant rs387906910dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021973183 – 228Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human. [Q9NP58-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NH6X-ray2.00A558-842[»]
3NH9X-ray2.10A558-842[»]
3NHAX-ray2.10A558-842[»]
3NHBX-ray2.15A558-842[»]
ProteinModelPortaliQ9NP58.
SMRiQ9NP58.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115369. 19 interactors.
IntActiQ9NP58. 5 interactors.
MINTiMINT-3071268.
STRINGi9606.ENSP00000265316.

Chemistry databases

BindingDBiQ9NP58.
ChEMBLiCHEMBL2007630.

Protein family/group databases

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

PTM databases

iPTMnetiQ9NP58.
PhosphoSitePlusiQ9NP58.
SwissPalmiQ9NP58.

Polymorphism and mutation databases

BioMutaiABCB6.
DMDMi13123949.

Proteomic databases

EPDiQ9NP58.
MaxQBiQ9NP58.
PaxDbiQ9NP58.
PeptideAtlasiQ9NP58.
PRIDEiQ9NP58.

Protocols and materials databases

DNASUi10058.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265316; ENSP00000265316; ENSG00000115657. [Q9NP58-1]
GeneIDi10058.
KEGGihsa:10058.
UCSCiuc002vkc.3. human. [Q9NP58-1]

Organism-specific databases

CTDi10058.
DisGeNETi10058.
GeneCardsiABCB6.
HGNCiHGNC:47. ABCB6.
HPAiHPA046723.
MalaCardsiABCB6.
MIMi111600. phenotype.
605452. gene.
609153. phenotype.
614497. phenotype.
615402. phenotype.
neXtProtiNX_Q9NP58.
OpenTargetsiENSG00000115657.
Orphaneti98938. Colobomatous microphthalmia.
241. Dyschromatosis universalis.
194. Ocular coloboma.
PharmGKBiPA24388.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0057. Eukaryota.
COG5265. LUCA.
GeneTreeiENSGT00440000033373.
HOVERGENiHBG080810.
InParanoidiQ9NP58.
KOiK05661.
OMAiRISPYVL.
OrthoDBiEOG091G02G4.
PhylomeDBiQ9NP58.
TreeFamiTF105194.

Enzyme and pathway databases

BioCyciZFISH:HS03923-MONOMER.
ReactomeiR-HSA-1369007. Mitochondrial ABC transporters.

Miscellaneous databases

ChiTaRSiABCB6. human.
EvolutionaryTraceiQ9NP58.
GeneWikiiABCB6.
GenomeRNAii10058.
PROiQ9NP58.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115657.
CleanExiHS_ABCB6.
ExpressionAtlasiQ9NP58. baseline and differential.
GenevisibleiQ9NP58. HS.

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.
IPR032410. MTABC_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
PF16185. MTABC_N. 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 167 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.