UniProtKB - Q9NUT2 (MITOS_HUMAN)
Mitochondrial potassium channel ATP-binding subunit
ABCB8
Functioni
Activity regulationi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 507 – 514 | ATPPROSITE-ProRule annotationCombined sources1 Publication | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB
GO - Biological processi
- potassium ion transmembrane transport Source: UniProtKB
- transmembrane transport Source: GO_Central
Keywordsi
Biological process | Ion transport, Potassium transport, Transport |
Ligand | ATP-binding, Nucleotide-binding, Potassium |
Enzyme and pathway databases
BRENDAi | 3.6.3.43, 2681 |
PathwayCommonsi | Q9NUT2 |
Reactomei | R-HSA-1369007, Mitochondrial ABC transporters |
Protein family/group databases
TCDBi | 3.A.1.201.22, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial potassium channel ATP-binding subunitCuratedAlternative 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 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197150.12 |
HGNCi | HGNC:49, ABCB8 |
MIMi | 605464, gene |
neXtProti | NX_Q9NUT2 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 2 Publications; Multi-pass membrane protein PROSITE-ProRule annotation
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB-SubCell
- mitochondrial membrane Source: GO_Central
- mitochondrion Source: HPA
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
Plasma Membrane
- ATP-binding cassette (ABC) transporter complex Source: ProtInc
Other locations
- mitochondrial ATP-gated potassium channel complex Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 26 – 144 | Mitochondrial matrix1 PublicationAdd BLAST | 119 | |
Transmembranei | 145 – 165 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 166 – 195 | Mitochondrial intermembrane1 PublicationAdd BLAST | 30 | |
Transmembranei | 196 – 216 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 217 – 295 | Mitochondrial matrix1 PublicationAdd BLAST | 79 | |
Transmembranei | 296 – 316 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 317 – 735 | Mitochondrial intermembrane1 PublicationAdd BLAST | 419 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 512 – 513 | GK → AR: Renders the protein unstable. 1 Publication | 2 | |
Mutagenesisi | 513 | K → A: Abolish binding to ATP. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 11194 |
OpenTargetsi | ENSG00000197150 |
PharmGKBi | PA24390 |
Miscellaneous databases
Pharosi | Q9NUT2, Tbio |
Chemistry databases
DrugBanki | DB00997, Doxorubicin |
Polymorphism and mutation databases
BioMutai | ABCB8 |
DMDMi | 143811358 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 25 | MitochondrionSequence analysisAdd BLAST | 25 | |
ChainiPRO_0000000251 | 26 – 735 | Mitochondrial potassium channel ATP-binding subunitSequence analysisAdd BLAST | 710 |
Proteomic databases
EPDi | Q9NUT2 |
jPOSTi | Q9NUT2 |
MassIVEi | Q9NUT2 |
MaxQBi | Q9NUT2 |
PaxDbi | Q9NUT2 |
PeptideAtlasi | Q9NUT2 |
PRIDEi | Q9NUT2 |
ProteomicsDBi | 33804 719 82718 [Q9NUT2-1] 82719 [Q9NUT2-2] |
PTM databases
iPTMneti | Q9NUT2 |
PhosphoSitePlusi | Q9NUT2 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000197150, Expressed in left adrenal gland and 168 other tissues |
ExpressionAtlasi | Q9NUT2, baseline and differential |
Genevisiblei | Q9NUT2, HS |
Organism-specific databases
HPAi | ENSG00000197150, Low tissue specificity |
Interactioni
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 PublicationsProtein-protein interaction databases
BioGRIDi | 116364, 35 interactors |
IntActi | Q9NUT2, 19 interactors |
STRINGi | 9606.ENSP00000297504 |
Miscellaneous databases
RNActi | Q9NUT2, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9NUT2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 150 – 437 | ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST | 288 | |
Domaini | 472 – 709 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 238 |
Sequence similaritiesi
Keywords - Domaini
Transit peptide, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0058, Eukaryota |
GeneTreei | ENSGT00940000159126 |
HOGENOMi | CLU_000604_84_3_1 |
InParanoidi | Q9NUT2 |
OMAi | FNTLQMG |
OrthoDBi | 684058at2759 |
PhylomeDBi | Q9NUT2 |
TreeFami | TF105196 |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit |
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 |
PANTHERi | PTHR24221, PTHR24221, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JYI3 | C9JYI3_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 409 | Annotation score: | ||
C9JTY4 | C9JTY4_HUMAN | ATP-binding cassette, sub-family B ... | ABCB8 hCG_18685 | 431 | Annotation score: | ||
H7C5K9 | H7C5K9_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 140 | Annotation score: | ||
C9JA03 | C9JA03_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 148 | Annotation score: | ||
F8WC43 | F8WC43_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 58 | Annotation score: | ||
F2Z2Z1 | F2Z2Z1_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 39 | Annotation score: | ||
F2Z3G8 | F2Z3G8_HUMAN | Mitochondrial potassium channel ATP... | ABCB8 | 48 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 174 | E → K in AAD15748 (PubMed:9878413).Curated | 1 | |
Sequence conflicti | 239 | D → N in AAD15748 (PubMed:9878413).Curated | 1 | |
Sequence conflicti | 278 | T → S in AAD15748 (PubMed:9878413).Curated | 1 | |
Sequence conflicti | 299 | M → T in BAG57613 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 326 | Q → H in AAD15748 (PubMed:9878413).Curated | 1 | |
Sequence conflicti | 347 | F → L in AAD15748 (PubMed:9878413).Curated | 1 | |
Sequence conflicti | 365 | R → H in BAA92038 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 487 | F → Y in BAG57613 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013331 | 152 | V → I1 PublicationCorresponds to variant dbSNP:rs4148844Ensembl. | 1 | |
Natural variantiVAR_035733 | 165 | I → T in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_035734 | 690 | A → G in a breast cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056744 | 1 – 187 | Missing in isoform 5. 1 PublicationAdd BLAST | 187 | |
Alternative sequenceiVSP_056745 | 1 – 153 | MLVHL…GVAVV → MRVKLLLPAAPVLPRQHAGA FISGRDSGWPIPRQAATAPP LPDILSCQ in isoform 4. 1 PublicationAdd BLAST | 153 | |
Alternative sequenceiVSP_000026 | 33 – 49 | Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST | 17 | |
Alternative sequenceiVSP_055297 | 665 – 689 | Missing in isoform 3. 1 PublicationAdd BLAST | 25 |
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 |
CCDSi | CCDS5913.1 [Q9NUT2-2] CCDS64798.1 [Q9NUT2-4] CCDS64799.1 [Q9NUT2-1] CCDS64800.1 [Q9NUT2-3] |
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
Ensembli | ENST00000297504; ENSP00000297504; ENSG00000197150 [Q9NUT2-1] ENST00000358849; ENSP00000351717; ENSG00000197150 [Q9NUT2-2] ENST00000498578; ENSP00000418271; ENSG00000197150 [Q9NUT2-3] ENST00000542328; ENSP00000438776; ENSG00000197150 [Q9NUT2-4] |
GeneIDi | 11194 |
KEGGi | hsa:11194 |
UCSCi | uc003wik.6, human [Q9NUT2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS5913.1 [Q9NUT2-2] CCDS64798.1 [Q9NUT2-4] CCDS64799.1 [Q9NUT2-1] CCDS64800.1 [Q9NUT2-3] |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5OCH | X-ray | 3.40 | A/B/C/D/E/F/G/H | 110-714 | [»] | |
SMRi | Q9NUT2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116364, 35 interactors |
IntActi | Q9NUT2, 19 interactors |
STRINGi | 9606.ENSP00000297504 |
Chemistry databases
DrugBanki | DB00997, Doxorubicin |
Protein family/group databases
TCDBi | 3.A.1.201.22, the atp-binding cassette (abc) superfamily |
PTM databases
iPTMneti | Q9NUT2 |
PhosphoSitePlusi | Q9NUT2 |
Polymorphism and mutation databases
BioMutai | ABCB8 |
DMDMi | 143811358 |
Proteomic databases
EPDi | Q9NUT2 |
jPOSTi | Q9NUT2 |
MassIVEi | Q9NUT2 |
MaxQBi | Q9NUT2 |
PaxDbi | Q9NUT2 |
PeptideAtlasi | Q9NUT2 |
PRIDEi | Q9NUT2 |
ProteomicsDBi | 33804 719 82718 [Q9NUT2-1] 82719 [Q9NUT2-2] |
Protocols and materials databases
Antibodypediai | 32942, 174 antibodies |
DNASUi | 11194 |
Genome annotation databases
Ensembli | ENST00000297504; ENSP00000297504; ENSG00000197150 [Q9NUT2-1] ENST00000358849; ENSP00000351717; ENSG00000197150 [Q9NUT2-2] ENST00000498578; ENSP00000418271; ENSG00000197150 [Q9NUT2-3] ENST00000542328; ENSP00000438776; ENSG00000197150 [Q9NUT2-4] |
GeneIDi | 11194 |
KEGGi | hsa:11194 |
UCSCi | uc003wik.6, human [Q9NUT2-1] |
Organism-specific databases
CTDi | 11194 |
DisGeNETi | 11194 |
EuPathDBi | HostDB:ENSG00000197150.12 |
GeneCardsi | ABCB8 |
HGNCi | HGNC:49, ABCB8 |
HPAi | ENSG00000197150, Low tissue specificity |
MIMi | 605464, gene |
neXtProti | NX_Q9NUT2 |
OpenTargetsi | ENSG00000197150 |
PharmGKBi | PA24390 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0058, Eukaryota |
GeneTreei | ENSGT00940000159126 |
HOGENOMi | CLU_000604_84_3_1 |
InParanoidi | Q9NUT2 |
OMAi | FNTLQMG |
OrthoDBi | 684058at2759 |
PhylomeDBi | Q9NUT2 |
TreeFami | TF105196 |
Enzyme and pathway databases
BRENDAi | 3.6.3.43, 2681 |
PathwayCommonsi | Q9NUT2 |
Reactomei | R-HSA-1369007, Mitochondrial ABC transporters |
Miscellaneous databases
BioGRID-ORCSi | 11194, 7 hits in 848 CRISPR screens |
ChiTaRSi | ABCB8, human |
GeneWikii | ABCB8 |
GenomeRNAii | 11194 |
Pharosi | Q9NUT2, Tbio |
PROi | PR:Q9NUT2 |
RNActi | Q9NUT2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197150, Expressed in left adrenal gland and 168 other tissues |
ExpressionAtlasi | Q9NUT2, baseline and differential |
Genevisiblei | Q9NUT2, HS |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit |
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 |
PANTHERi | PTHR24221, PTHR24221, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MITOS_HUMAN | |
Accessioni | Q9NUT2Primary (citable) accession number: Q9NUT2 Secondary accession number(s): A5D8W3 Q53GM0 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations