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Protein

ATP-binding cassette sub-family B member 8, mitochondrial

Gene

ABCB8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi507 – 514ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATP binding Source: ProtInc
  • transporter activity Source: ProtInc

GO - Biological processi

  • transmembrane transport Source: GO_Central
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-30982-MONOMER.
BRENDAi3.6.3.43. 2681.
ReactomeiR-HSA-1369007. Mitochondrial ABC transporters.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family B member 8, mitochondrial
Alternative name(s):
Mitochondrial ATP-binding cassette 1
Short name:
M-ABC1
Gene namesi
Name:ABCB8
Synonyms:MABC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:49. ABCB8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei86 – 102HelicalPROSITE-ProRule annotationAdd BLAST17
Transmembranei145 – 165HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei196 – 216HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei296 – 316HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei383 – 403HelicalPROSITE-ProRule annotationAdd BLAST21

GO - Cellular componenti

  • ATP-binding cassette (ABC) transporter complex Source: ProtInc
  • membrane Source: ProtInc
  • mitochondrial envelope Source: ProtInc
  • mitochondrial inner membrane Source: UniProtKB-SubCell
  • mitochondrion Source: HPA
  • nucleolus Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi512 – 513GK → AR: Renders the protein unstable. 1 Publication2

Organism-specific databases

DisGeNETi11194.
OpenTargetsiENSG00000197150.
PharmGKBiPA24390.

Chemistry databases

DrugBankiDB00997. Doxorubicin.

Polymorphism and mutation databases

DMDMi143811358.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 55Mitochondrion1 PublicationAdd BLAST55
ChainiPRO_000000025156 – 735ATP-binding cassette sub-family B member 8, mitochondrialAdd BLAST680

Proteomic databases

EPDiQ9NUT2.
MaxQBiQ9NUT2.
PaxDbiQ9NUT2.
PeptideAtlasiQ9NUT2.
PRIDEiQ9NUT2.

PTM databases

iPTMnetiQ9NUT2.
PhosphoSitePlusiQ9NUT2.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000197150.
CleanExiHS_ABCB8.
ExpressionAtlasiQ9NUT2. baseline and differential.
GenevisibleiQ9NUT2. HS.

Organism-specific databases

HPAiHPA045187.

Interactioni

Subunit structurei

Monomer.Curated

Protein-protein interaction databases

BioGridi116364. 25 interactors.
IntActiQ9NUT2. 2 interactors.
MINTiMINT-1381060.
STRINGi9606.ENSP00000351717.

Structurei

3D structure databases

ProteinModelPortaliQ9NUT2.
SMRiQ9NUT2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini148 – 437ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST290
Domaini472 – 709ABC transporterPROSITE-ProRule annotationAdd BLAST238

Sequence similaritiesi

Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0058. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00550000074497.
HOVERGENiHBG008358.
InParanoidiQ9NUT2.
KOiK05655.
OMAiRSWWAGH.
OrthoDBiEOG091G0HVA.
PhylomeDBiQ9NUT2.
TreeFamiTF105196.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:548
Mass (Da):59,383
Checksum:i2BE5FFBF0F98917C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_013331152V → I.1 PublicationCorresponds to variant rs4148844dbSNPEnsembl.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
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:
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]
UniGeneiHs.647118.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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]
UniGeneiHs.647118.

3D structure databases

ProteinModelPortaliQ9NUT2.
SMRiQ9NUT2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116364. 25 interactors.
IntActiQ9NUT2. 2 interactors.
MINTiMINT-1381060.
STRINGi9606.ENSP00000351717.

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

DMDMi143811358.

Proteomic databases

EPDiQ9NUT2.
MaxQBiQ9NUT2.
PaxDbiQ9NUT2.
PeptideAtlasiQ9NUT2.
PRIDEiQ9NUT2.

Protocols and materials databases

DNASUi11194.
Structural Biology KnowledgebaseSearch...

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

CTDi11194.
DisGeNETi11194.
GeneCardsiABCB8.
H-InvDBHIX0007220.
HGNCiHGNC:49. ABCB8.
HPAiHPA045187.
MIMi605464. gene.
neXtProtiNX_Q9NUT2.
OpenTargetsiENSG00000197150.
PharmGKBiPA24390.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0058. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00550000074497.
HOVERGENiHBG008358.
InParanoidiQ9NUT2.
KOiK05655.
OMAiRSWWAGH.
OrthoDBiEOG091G0HVA.
PhylomeDBiQ9NUT2.
TreeFamiTF105196.

Enzyme and pathway databases

BioCyciZFISH:G66-30982-MONOMER.
BRENDAi3.6.3.43. 2681.
ReactomeiR-HSA-1369007. Mitochondrial ABC transporters.

Miscellaneous databases

ChiTaRSiABCB8. human.
GeneWikiiABCB8.
GenomeRNAii11194.
PROiQ9NUT2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197150.
CleanExiHS_ABCB8.
ExpressionAtlasiQ9NUT2. baseline and differential.
GenevisibleiQ9NUT2. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCB8_HUMAN
AccessioniPrimary (citable) accession number: Q9NUT2
Secondary accession number(s): A5D8W3
, B2RBL8, B3KND2, B4DG02, G3XAP3, O95787, Q53GM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 3, 2007
Last modified: November 2, 2016
This is version 159 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

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