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Q9NUT2 (ABCB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family B member 8, mitochondrial
Alternative name(s):
Mitochondrial ATP-binding cassette 1
Short name=M-ABC1
Gene names
Name:ABCB8
Synonyms:MABC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length735 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Monomer Potential.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.6.

Tissue specificity

Ubiquitous.

Sequence similarities

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

Contains 1 ABC transmembrane type-1 domain.

Contains 1 ABC transporter domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: Q9NUT2-1)

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.
Isoform Short (identifier: Q9NUT2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 5555Mitochondrion Probable
Chain56 – 735680ATP-binding cassette sub-family B member 8, mitochondrial
PRO_0000000251

Regions

Transmembrane86 – 10217Helical; Potential
Transmembrane145 – 16521Helical; Potential
Transmembrane196 – 21621Helical; Potential
Transmembrane296 – 31621Helical; Potential
Transmembrane383 – 40321Helical; Potential
Domain148 – 437290ABC transmembrane type-1
Domain472 – 709238ABC transporter
Nucleotide binding507 – 5148ATP Potential

Natural variations

Alternative sequence33 – 4917Missing in isoform Short.
VSP_000026
Natural variant1521V → I. Ref.7
Corresponds to variant rs4148844 [ dbSNP | Ensembl ].
VAR_013331
Natural variant1651I → T in a breast cancer sample; somatic mutation. Ref.8
VAR_035733
Natural variant6901A → G in a breast cancer sample; somatic mutation. Ref.8
VAR_035734

Experimental info

Mutagenesis512 – 5132GK → AR: Renders the protein unstable.
Sequence conflict1741E → K in AAD15748. Ref.1
Sequence conflict2391D → N in AAD15748. Ref.1
Sequence conflict2781T → S in AAD15748. Ref.1
Sequence conflict3261Q → H in AAD15748. Ref.1
Sequence conflict3471F → L in AAD15748. Ref.1
Sequence conflict3651R → H in BAA92038. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified April 3, 2007. Version 3.
Checksum: B7E02B063E6C6F3B

FASTA73579,989
        10         20         30         40         50         60 
MLVHLFRVGI RGGPFPGRLL PPLRFQTFSA VRNTWRNGKT GQLHKAEGEY SDGYRSSSLL 

        70         80         90        100        110        120 
RAVAHLRSQL WAHLPRAPLA PRWSPSAWCW VGGALLGPMV LSKHPHLCLV ALCEAEEAPP 

       130        140        150        160        170        180 
ASSTPHVVGS RFNWKLFWQF LHPHLLVLGV AVVLALGAAL VNVQIPLLLG QLVEVVAKYT 

       190        200        210        220        230        240 
RDHVGSFMTE SQNLSTHLLI LYGVQGLLTF GYLVLLSHVG ERMAVDMRRA LFSSLLRQDI 

       250        260        270        280        290        300 
TFFDANKTGQ LVSRLTTDVQ EFKSSFKLVI SQGLRSCTQV AGCLVSLSML STRLTLLLMV 

       310        320        330        340        350        360 
ATPALMGVGT LMGSGLRKLS RQCQEQIARA MGVADEALGN VRTVRAFAME QREEERYGAE 

       370        380        390        400        410        420 
LEACRCRAEE LGRGIALFQG LSNIAFNCMV LGTLFIGGSL VAGQQLTGGD LMSFLVASQT 

       430        440        450        460        470        480 
VQRSMANLSV LFGQVVRGLS AGARVFEYMA LNPCIPLSGG CCVPKEQLRG SVTFQNVCFS 

       490        500        510        520        530        540 
YPCRPGFEVL KDFTLTLPPG KIVALVGQSG GGKTTVASLL ERFYDPTAGV VMLDGRDLRT 

       550        560        570        580        590        600 
LDPSWLRGQV VGFISQEPVL FGTTIMENIR FGKLEASDEE VYTAAREANA HEFITSFPEG 

       610        620        630        640        650        660 
YNTVVGERGT TLSGGQKQRL AIARALIKQP TVLILDEATS ALDAESERVV QEALDRASAG 

       670        680        690        700        710        720 
RTVLVIAHRL STVRGAHCIV VMADGRVWEA GTHEELLKKG GLYAELIRRQ ALDAPRTAAP 

       730 
PPKKPEGPRS HQHKS 

« Hide

Isoform Short [UniParc].

Checksum: B082E28433C7BC0D
Show »

FASTA71878,081

References

« Hide 'large scale' references
[1]"Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein."
Hogue D.L., Liu L., Ling V.
J. Mol. Biol. 285:379-389(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT), MUTAGENESIS.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG AND SHORT).
Tissue: Placenta and Tongue.
[3]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
Tissue: Kidney.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
[6]"Targeting of the mitochondrial membrane proteins to the cell surface for functional studies."
Ardehali H., Xue T., Dong P., Machamer C.
Biochem. Biophys. Res. Commun. 338:1143-1151(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TRANSIT PEPTIDE.
[7]"Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population."
Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y.
J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-152.
[8]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-165 AND GLY-690.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF047690 mRNA. Translation: AAD15748.1.
AK002018 mRNA. Translation: BAA92038.1.
AK314721 mRNA. Translation: BAG37265.1.
AK222911 mRNA. Translation: BAD96631.1.
CH471173 Genomic DNA. Translation: EAW54062.1.
BC141814 mRNA. Translation: AAI41815.1.
BC151235 mRNA. Translation: AAI51236.1.
RefSeqNP_001269220.1. NM_001282291.1.
NP_001269222.1. NM_001282293.1.
NP_009119.2. NM_007188.4.
UniGeneHs.647118.

3D structure databases

ProteinModelPortalQ9NUT2.
SMRQ9NUT2. Positions 142-712.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116364. 10 interactions.
IntActQ9NUT2. 2 interactions.
MINTMINT-1381060.
STRING9606.ENSP00000351717.

PTM databases

PhosphoSiteQ9NUT2.

Polymorphism databases

DMDM143811358.

Proteomic databases

PaxDbQ9NUT2.
PRIDEQ9NUT2.

Protocols and materials databases

DNASU11194.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297504; ENSP00000297504; ENSG00000197150. [Q9NUT2-1]
ENST00000358849; ENSP00000351717; ENSG00000197150. [Q9NUT2-2]
GeneID11194.
KEGGhsa:11194.
UCSCuc003wik.4. human. [Q9NUT2-2]
uc003wil.4. human. [Q9NUT2-1]

Organism-specific databases

CTD11194.
GeneCardsGC07P150725.
H-InvDBHIX0007220.
HGNCHGNC:49. ABCB8.
HPAHPA045187.
MIM605464. gene.
neXtProtNX_Q9NUT2.
PharmGKBPA24390.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1132.
HOVERGENHBG008358.
InParanoidQ9NUT2.
KOK05655.
OMAYQMSIRI.
OrthoDBEOG7Z3F4H.
PhylomeDBQ9NUT2.
TreeFamTF105196.

Enzyme and pathway databases

BRENDA3.6.3.43. 2681.
ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9NUT2.
BgeeQ9NUT2.
CleanExHS_ABCB8.
GenevestigatorQ9NUT2.

Family and domain databases

InterProIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCB8.
GenomeRNAi11194.
NextBio42609.
PROQ9NUT2.
SOURCESearch...

Entry information

Entry nameABCB8_HUMAN
AccessionPrimary (citable) accession number: Q9NUT2
Secondary accession number(s): B2RBL8, O95787, Q53GM0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 3, 2007
Last modified: March 19, 2014
This is version 135 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM