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Entry version 188 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

Miscellaneous

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei599ATP1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi623 – 634ATPAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1369007 Mitochondrial ABC transporters
R-HSA-5683371 Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCB6
Synonyms:MTABC3, PRP, UMAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:47 ABCB6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605452 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NP58

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06739457A → T in MCOPCB7; unknown pathological significance; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906911EnsemblClinVar.1
Natural variantiVAR_067395811L → V in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906910EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070602170S → G in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs397514757EnsemblClinVar.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 dbSNP:rs397514756EnsemblClinVar.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 dbSNP:rs796065353EnsemblClinVar.1
Natural variantiVAR_070604579G → E in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs397514758EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071133375R → Q in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs754667801EnsemblClinVar.1
Natural variantiVAR_071134375R → W in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs764893806EnsemblClinVar.1
Natural variantiVAR_076206723R → Q in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs148211042EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita, Microphthalmia

Organism-specific databases

DisGeNET

More...
DisGeNETi
10058

MalaCards human disease database

More...
MalaCardsi
ABCB6
MIMi111600 phenotype
609153 phenotype
614497 phenotype
615402 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115657

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
98938 Colobomatous microphthalmia
241 Dyschromatosis universalis hereditaria
90044 Familial pseudohyperkalemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24388

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NP58

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2007630

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCB6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13123949

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000002481 – 842ATP-binding cassette sub-family B member 6, mitochondrialAdd BLAST842

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NP58

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NP58

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NP58

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NP58

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NP58

PeptideAtlas

More...
PeptideAtlasi
Q9NP58

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP58

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81888 [Q9NP58-1]
81889 [Q9NP58-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NP58

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NP58

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NP58

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Highly expressed in fetal liver.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115657 Expressed in 94 organ(s), highest expression level in left ovary

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NP58 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NP58 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046723
HPA058011

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115369, 25 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NP58, 14 interactors

Molecular INTeraction database

More...
MINTi
Q9NP58

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265316

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NP58

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1842
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NP58

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NP58

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini265 – 556ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST292
Domaini590 – 824ABC transporterPROSITE-ProRule annotationAdd BLAST235

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0057 Eukaryota
COG5265 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156160

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NP58

KEGG Orthology (KO)

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KOi
K05661

Identification of Orthologs from Complete Genome Data

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OMAi
YVLFASY

Database of Orthologous Groups

More...
OrthoDBi
1609516at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NP58

TreeFam database of animal gene trees

More...
TreeFami
TF105194

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1560.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR032410 MTABC_N
IPR027417 P-loop_NTPase
IPR039421 Type_I_exporter

The PANTHER Classification System

More...
PANTHERi
PTHR24221 PTHR24221, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00664 ABC_membrane, 1 hit
PF00005 ABC_tran, 1 hit
PF16185 MTABC_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C245H7C245_HUMAN
ATP-binding cassette sub-family B m...
ABCB6
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C049H7C049_HUMAN
ATP-binding cassette sub-family B m...
ABCB6
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1R6H7C1R6_HUMAN
ATP-binding cassette sub-family B m...
ABCB6
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3Z0H7C3Z0_HUMAN
ATP-binding cassette sub-family B m...
ABCB6
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG33617 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAG33618 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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. Truncated C-terminus.Curated
The sequence BAD92291 differs from that shown. Chimeric cDNA.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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; unknown pathological significance; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906911EnsemblClinVar.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 dbSNP:rs397514757EnsemblClinVar.1
Natural variantiVAR_047552293L → V. Corresponds to variant dbSNP:rs13018440Ensembl.1
Natural variantiVAR_073973322S → R in DUH3. 1 Publication1
Natural variantiVAR_060986343R → Q. Corresponds to variant dbSNP:rs60322991Ensembl.1
Natural variantiVAR_070603356L → P in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs397514756EnsemblClinVar.1
Natural variantiVAR_071133375R → Q in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs754667801EnsemblClinVar.1
Natural variantiVAR_071134375R → W in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs764893806EnsemblClinVar.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 dbSNP:rs796065353EnsemblClinVar.1
Natural variantiVAR_070604579G → E in DUH3; the protein is retained in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs397514758EnsemblClinVar.1
Natural variantiVAR_029749648R → Q. Corresponds to variant dbSNP:rs13402964Ensembl.1
Natural variantiVAR_076206723R → Q in PSHK2. 1 PublicationCorresponds to variant dbSNP:rs148211042EnsemblClinVar.1
Natural variantiVAR_067395811L → V in MCOPCB7; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906910EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_021973183 – 228Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2436.1 [Q9NP58-1]
CCDS86920.1 [Q9NP58-4]

NCBI Reference Sequences

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RefSeqi
NP_005680.1, NM_005689.2 [Q9NP58-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265316; ENSP00000265316; ENSG00000115657 [Q9NP58-1]
ENST00000295750; ENSP00000295750; ENSG00000115657 [Q9NP58-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10058

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10058

UCSC genome browser

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UCSCi
uc002vkc.3 human [Q9NP58-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]
CCDS86920.1 [Q9NP58-4]
RefSeqiNP_005680.1, NM_005689.2 [Q9NP58-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NH6X-ray2.00A558-842[»]
3NH9X-ray2.10A558-842[»]
3NHAX-ray2.10A558-842[»]
3NHBX-ray2.15A558-842[»]
SMRiQ9NP58
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115369, 25 interactors
IntActiQ9NP58, 14 interactors
MINTiQ9NP58
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
jPOSTiQ9NP58
MassIVEiQ9NP58
MaxQBiQ9NP58
PaxDbiQ9NP58
PeptideAtlasiQ9NP58
PRIDEiQ9NP58
ProteomicsDBi81888 [Q9NP58-1]
81889 [Q9NP58-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10058

Genome annotation databases

EnsembliENST00000265316; ENSP00000265316; ENSG00000115657 [Q9NP58-1]
ENST00000295750; ENSP00000295750; ENSG00000115657 [Q9NP58-4]
GeneIDi10058
KEGGihsa:10058
UCSCiuc002vkc.3 human [Q9NP58-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10058
DisGeNETi10058

GeneCards: human genes, protein and diseases

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GeneCardsi
ABCB6
HGNCiHGNC:47 ABCB6
HPAiHPA046723
HPA058011
MalaCardsiABCB6
MIMi111600 phenotype
605452 gene
609153 phenotype
614497 phenotype
615402 phenotype
neXtProtiNX_Q9NP58
OpenTargetsiENSG00000115657
Orphaneti98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
98938 Colobomatous microphthalmia
241 Dyschromatosis universalis hereditaria
90044 Familial pseudohyperkalemia
PharmGKBiPA24388

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0057 Eukaryota
COG5265 LUCA
GeneTreeiENSGT00940000156160
InParanoidiQ9NP58
KOiK05661
OMAiYVLFASY
OrthoDBi1609516at2759
PhylomeDBiQ9NP58
TreeFamiTF105194

Enzyme and pathway databases

ReactomeiR-HSA-1369007 Mitochondrial ABC transporters
R-HSA-5683371 Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ABCB6 human
EvolutionaryTraceiQ9NP58

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ABCB6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10058
PharosiQ9NP58

Protein Ontology

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PROi
PR:Q9NP58

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115657 Expressed in 94 organ(s), highest expression level in left ovary
ExpressionAtlasiQ9NP58 baseline and differential
GenevisibleiQ9NP58 HS

Family and domain databases

Gene3Di1.20.1560.10, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR032410 MTABC_N
IPR027417 P-loop_NTPase
IPR039421 Type_I_exporter
PANTHERiPTHR24221 PTHR24221, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 1 hit
PF00005 ABC_tran, 1 hit
PF16185 MTABC_N, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCB6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP58
Secondary accession number(s): O75542
, Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6, Q9HAQ7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 188 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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