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Protein

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

Gene

ABCB8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: InterPro
  • ATP binding Source: ProtInc
  • transporter activity Source: ProtInc

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000197150.12
HGNCiHGNC:49 ABCB8
MIMi605464 gene
neXtProtiNX_Q9NUT2

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; Source: COMPARTMENTS

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

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, 32 interactors
IntActiQ9NUT2, 2 interactors
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

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0058 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00550000074497
HOVERGENiHBG008358
InParanoidiQ9NUT2
KOiK05655
OMAiAWGTYLV
OrthoDBiEOG091G0HVA
PhylomeDBiQ9NUT2
TreeFamiTF105196

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
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

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 → 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
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

Similar proteinsi

Entry informationi

Entry nameiABCB8_HUMAN
AccessioniPrimary (citable) accession number: Q9NUT2
Secondary accession number(s): A5D8W3
, B2RBL8, B3KND2, B4DG02, G3XAP3, O95787, Q53GM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 3, 2007
Last modified: March 28, 2018
This is version 168 of the entry and version 3 of the sequence. See 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

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