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UniProtKB - Q9NUT2 (MITOS_HUMAN)

Entry version 190 (02 Dec 2020)
Sequence version 3 (03 Apr 2007)
Previous versions | rss
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Protein

Mitochondrial potassium channel ATP-binding subunit

Gene

ABCB8

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

ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity).By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Channel activity inhibited by ATP via ABCB8/MITOSUR subunit.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi507 – 514ATPPROSITE-ProRule annotationCombined sources1 Publication8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processIon transport, Potassium transport, Transport
LigandATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.6.3.43, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NUT2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369007, Mitochondrial ABC transporters

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.201.22, 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%5Fand%5Ftaxonomy%5Fsection">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:
Mitochondrial potassium channel ATP-binding subunitCurated
Alternative name(s):
ATP-binding cassette sub-family B member 8, mitochondrial1 Publication
Short name:
ABCB81 Publication
Mitochondrial ATP-binding cassette 11 Publication
Short name:
M-ABC11 Publication
Mitochondrial sulfonylurea-receptor1 Publication
Short name:
MITOSUR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ABCB81 PublicationImported
Synonyms:MABC11 Publication, MITOSUR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 7

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000197150.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:49, ABCB8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605464, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NUT2

<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%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 144Mitochondrial matrix1 PublicationAdd BLAST119
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Topological domaini166 – 195Mitochondrial intermembrane1 PublicationAdd BLAST30
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Topological domaini217 – 295Mitochondrial matrix1 PublicationAdd BLAST79
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 735Mitochondrial intermembrane1 PublicationAdd BLAST419

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi512 – 513GK → AR: Renders the protein unstable. 1 Publication2
Mutagenesisi513K → A: Abolish binding to ATP. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		11194

Open Targets

More...OpenTargetsi		ENSG00000197150

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24390

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NUT2, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00997, Doxorubicin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCB8

Domain mapping of disease mutations (DMDM)

More...DMDMi		143811358

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 25MitochondrionSequence analysisAdd BLAST25
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000025126 – 735Mitochondrial potassium channel ATP-binding subunitSequence analysisAdd BLAST710

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NUT2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NUT2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NUT2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NUT2

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

More...PaxDbi		Q9NUT2

PeptideAtlas

More...PeptideAtlasi		Q9NUT2

PRoteomics IDEntifications database

More...PRIDEi		Q9NUT2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33804
719
82718 [Q9NUT2-1]
82719 [Q9NUT2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NUT2

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

More...PhosphoSitePlusi		Q9NUT2

<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

Ubiquitous.

<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

SP1 transcription factor binds to the ABCB8 core promoter region, possibly regulating its transcription.Curated1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197150, Expressed in left adrenal gland and 168 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NUT2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NUT2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000197150, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The mitochondrial potassium channel (mitoK(ATP)) is composed of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR (Probable).

Interacts with C10orf88/PAAT (PubMed:25063848).

Interacts with NRP1; NRP1 regulates ABCB8/MITOSUR protein levels in mitochondria (PubMed:30623799).

1 Publication2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116364, 35 interactors

Protein interaction database and analysis system

More...IntActi		Q9NUT2, 19 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000297504

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NUT2, protein

<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

1735
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

More...SMRi		Q9NUT2

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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%5Fand%5Fdomains%5Fsection">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>Domaini150 – 437ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST288
Domaini472 – 709ABC transporterPROSITE-ProRule annotationAdd BLAST238

<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

Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification]Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0058, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159126

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_84_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NUT2

Identification of Orthologs from Complete Genome Data

More...OMAi		FNTLQMG

Database of Orthologous Groups

More...OrthoDBi		684058at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NUT2

TreeFam database of animal gene trees

More...TreeFami		TF105196

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
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

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%5Flength">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUT2-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MLVHLFRVGI RGGPFPGRLL PPLRFQTFSA VRNTWRNGKT GQLHKAEGEY 
        60         70         80         90        100
SDGYRSSSLL RAVAHLRSQL WAHLPRAPLA PRWSPSAWCW VGGALLGPMV 
       110        120        130        140        150
LSKHPHLCLV ALCEAEEAPP ASSTPHVVGS RFNWKLFWQF LHPHLLVLGV 
       160        170        180        190        200
AVVLALGAAL VNVQIPLLLG QLVEVVAKYT RDHVGSFMTE SQNLSTHLLI 
       210        220        230        240        250
LYGVQGLLTF GYLVLLSHVG ERMAVDMRRA LFSSLLRQDI TFFDANKTGQ 
       260        270        280        290        300
LVSRLTTDVQ EFKSSFKLVI SQGLRSCTQV AGCLVSLSML STRLTLLLMV 
       310        320        330        340        350
ATPALMGVGT LMGSGLRKLS RQCQEQIARA MGVADEALGN VRTVRAFAME 
       360        370        380        390        400
QREEERYGAE LEACRCRAEE LGRGIALFQG LSNIAFNCMV LGTLFIGGSL 
       410        420        430        440        450
VAGQQLTGGD LMSFLVASQT VQRSMANLSV LFGQVVRGLS AGARVFEYMA 
       460        470        480        490        500
LNPCIPLSGG CCVPKEQLRG SVTFQNVCFS YPCRPGFEVL KDFTLTLPPG 
       510        520        530        540        550
KIVALVGQSG GGKTTVASLL ERFYDPTAGV VMLDGRDLRT LDPSWLRGQV 
       560        570        580        590        600
VGFISQEPVL FGTTIMENIR FGKLEASDEE VYTAAREANA HEFITSFPEG 
       610        620        630        640        650
YNTVVGERGT TLSGGQKQRL AIARALIKQP TVLILDEATS ALDAESERVV 
       660        670        680        690        700
QEALDRASAG RTVLVIAHRL STVRGAHCIV VMADGRVWEA GTHEELLKKG 
       710        720        730 
GLYAELIRRQ ALDAPRTAAP PPKKPEGPRS HQHKS
Length:735
Mass (Da):79,989
Last modified:April 3, 2007 - v3
<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:iB7E02B063E6C6F3B
GO
Isoform 2 (identifier: Q9NUT2-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: Missing.

Show »
Length:718
Mass (Da):78,081
Checksum:iB082E28433C7BC0D
GO
Isoform 3 (identifier: Q9NUT2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: Missing.
     665-689: Missing.

Show »
Length:693
Mass (Da):75,323
Checksum:i7542049429217452
GO
Isoform 4 (identifier: Q9NUT2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-153: MLVHLFRVGI...HLLVLGVAVV → MRVKLLLPAA...PPLPDILSCQ

Show »
Length:630
Mass (Da):68,067
Checksum:iAEA1BF297F630D76
GO
Isoform 5 (identifier: Q9NUT2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.

Show »
Length:548
Mass (Da):59,383
Checksum:i2BE5FFBF0F98917C
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYI3C9JYI3_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
409Annotation score:

Annotation score:2 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>
C9JTY4C9JTY4_HUMAN
ATP-binding cassette, sub-family B ...
ABCB8 hCG_18685
431Annotation score:

Annotation score:2 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>
H7C5K9H7C5K9_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
140Annotation 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>
C9JA03C9JA03_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
148Annotation 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>
F8WC43F8WC43_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
58Annotation 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>
F2Z2Z1F2Z2Z1_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
39Annotation 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>
F2Z3G8F2Z3G8_HUMAN
Mitochondrial potassium channel ATP...
ABCB8
48Annotation 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>

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 conflicti174E → K in AAD15748 (PubMed:9878413).Curated1
Sequence conflicti239D → N in AAD15748 (PubMed:9878413).Curated1
Sequence conflicti278T → S in AAD15748 (PubMed:9878413).Curated1
Sequence conflicti299M → T in BAG57613 (PubMed:14702039).Curated1
Sequence conflicti326Q → H in AAD15748 (PubMed:9878413).Curated1
Sequence conflicti347F → L in AAD15748 (PubMed:9878413).Curated1
Sequence conflicti365R → H in BAA92038 (PubMed:14702039).Curated1
Sequence conflicti487F → Y in BAG57613 (PubMed:14702039).Curated1

Natural variant

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_013331152V → I1 PublicationCorresponds to variant dbSNP:rs4148844Ensembl.1
Natural variantiVAR_035733165I → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035734690A → G in a breast cancer sample; somatic mutation. 1 Publication1

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_0567441 – 187Missing in isoform 5. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_0567451 – 153MLVHL…GVAVV → MRVKLLLPAAPVLPRQHAGA FISGRDSGWPIPRQAATAPP LPDILSCQ in isoform 4. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_00002633 – 49Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST17
Alternative sequenceiVSP_055297665 – 689Missing in isoform 3. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF047690 mRNA Translation: AAD15748.1
AK002018 mRNA Translation: BAA92038.1
AK024401 mRNA Translation: BAG51294.1
AK222911 mRNA Translation: BAD96631.1
AK294344 mRNA Translation: BAG57613.1
AK314721 mRNA Translation: BAG37265.1
AC010973 Genomic DNA No translation available.
CH471173 Genomic DNA Translation: EAW54057.1
CH471173 Genomic DNA Translation: EAW54061.1
CH471173 Genomic DNA Translation: EAW54062.1
BC141814 mRNA Translation: AAI41815.1
BC141836 mRNA Translation: AAI41837.1
BC151235 mRNA Translation: AAI51236.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5913.1 [Q9NUT2-2]
CCDS64798.1 [Q9NUT2-4]
CCDS64799.1 [Q9NUT2-1]
CCDS64800.1 [Q9NUT2-3]

NCBI Reference Sequences

More...RefSeqi		NP_001269220.1, NM_001282291.1 [Q9NUT2-1]
NP_001269221.1, NM_001282292.1 [Q9NUT2-3]
NP_001269222.1, NM_001282293.1 [Q9NUT2-4]
NP_009119.2, NM_007188.4 [Q9NUT2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000297504; ENSP00000297504; ENSG00000197150 [Q9NUT2-1]
ENST00000358849; ENSP00000351717; ENSG00000197150 [Q9NUT2-2]
ENST00000498578; ENSP00000418271; ENSG00000197150 [Q9NUT2-3]
ENST00000542328; ENSP00000438776; ENSG00000197150 [Q9NUT2-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11194

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11194

UCSC genome browser

More...UCSCi		uc003wik.6, human [Q9NUT2-1]

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%5Freferences%5Fsection">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
AF047690 mRNA Translation: AAD15748.1
AK002018 mRNA Translation: BAA92038.1
AK024401 mRNA Translation: BAG51294.1
AK222911 mRNA Translation: BAD96631.1
AK294344 mRNA Translation: BAG57613.1
AK314721 mRNA Translation: BAG37265.1
AC010973 Genomic DNA No translation available.
CH471173 Genomic DNA Translation: EAW54057.1
CH471173 Genomic DNA Translation: EAW54061.1
CH471173 Genomic DNA Translation: EAW54062.1
BC141814 mRNA Translation: AAI41815.1
BC141836 mRNA Translation: AAI41837.1
BC151235 mRNA Translation: AAI51236.1
CCDSiCCDS5913.1 [Q9NUT2-2]
CCDS64798.1 [Q9NUT2-4]
CCDS64799.1 [Q9NUT2-1]
CCDS64800.1 [Q9NUT2-3]
RefSeqiNP_001269220.1, NM_001282291.1 [Q9NUT2-1]
NP_001269221.1, NM_001282292.1 [Q9NUT2-3]
NP_001269222.1, NM_001282293.1 [Q9NUT2-4]
NP_009119.2, NM_007188.4 [Q9NUT2-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5OCHX-ray3.40A/B/C/D/E/F/G/H110-714[»]
SMRiQ9NUT2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116364, 35 interactors
IntActiQ9NUT2, 19 interactors
STRINGi9606.ENSP00000297504

Chemistry databases

DrugBankiDB00997, Doxorubicin

Protein family/group databases

TCDBi3.A.1.201.22, the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ9NUT2
PhosphoSitePlusiQ9NUT2

Polymorphism and mutation databases

BioMutaiABCB8
DMDMi143811358

Proteomic databases

EPDiQ9NUT2
jPOSTiQ9NUT2
MassIVEiQ9NUT2
MaxQBiQ9NUT2
PaxDbiQ9NUT2
PeptideAtlasiQ9NUT2
PRIDEiQ9NUT2
ProteomicsDBi33804
719
82718 [Q9NUT2-1]
82719 [Q9NUT2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32942, 174 antibodies

The DNASU plasmid repository

More...DNASUi		11194

Genome annotation databases

EnsembliENST00000297504; ENSP00000297504; ENSG00000197150 [Q9NUT2-1]
ENST00000358849; ENSP00000351717; ENSG00000197150 [Q9NUT2-2]
ENST00000498578; ENSP00000418271; ENSG00000197150 [Q9NUT2-3]
ENST00000542328; ENSP00000438776; ENSG00000197150 [Q9NUT2-4]
GeneIDi11194
KEGGihsa:11194
UCSCiuc003wik.6, human [Q9NUT2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11194
DisGeNETi11194
EuPathDBiHostDB:ENSG00000197150.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCB8
HGNCiHGNC:49, ABCB8
HPAiENSG00000197150, Low tissue specificity
MIMi605464, gene
neXtProtiNX_Q9NUT2
OpenTargetsiENSG00000197150
PharmGKBiPA24390

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0058, Eukaryota
GeneTreeiENSGT00940000159126
HOGENOMiCLU_000604_84_3_1
InParanoidiQ9NUT2
OMAiFNTLQMG
OrthoDBi684058at2759
PhylomeDBiQ9NUT2
TreeFamiTF105196

Enzyme and pathway databases

BRENDAi3.6.3.43, 2681
PathwayCommonsiQ9NUT2
ReactomeiR-HSA-1369007, Mitochondrial ABC transporters

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11194, 7 hits in 848 CRISPR screens

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

More...ChiTaRSi		ABCB8, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCB8

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

More...GenomeRNAii		11194
PharosiQ9NUT2, Tbio

Protein Ontology

More...PROi		PR:Q9NUT2
RNActiQ9NUT2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197150, Expressed in left adrenal gland and 168 other tissues
ExpressionAtlasiQ9NUT2, baseline and differential
GenevisibleiQ9NUT2, 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
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
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiMITOS_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: Q9NUT2
Secondary accession number(s): A5D8W3
, B2RBL8, B3KND2, B4DG02, G3XAP3, O95787, Q53GM0
<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%5Fand%5Fisoforms">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: April 3, 2007
Last modified: December 2, 2020
This is version 190 of the entry and version 3 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, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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