Q9NUT2 (ABCB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	735 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	ATP-binding cassette (ABC) transporter complex Traceable author statement Ref.1. Source: ProtInc integral to membrane Inferred from Biological aspect of Ancestor. Source: RefGenome mitochondrial envelope Traceable author statement Ref.1. Source: ProtInc mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleolus Inferred from direct assay. Source: HPA
Molecular_function	ATP binding Traceable author statement Ref.1. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 55	55	Mitochondrion Probable
	Chain	56 – 735	680	ATP-binding cassette sub-family B member 8, mitochondrial		PRO_0000000251
Regions
	Transmembrane	86 – 102	17	Helical; Potential
	Transmembrane	145 – 165	21	Helical; Potential
	Transmembrane	196 – 216	21	Helical; Potential
	Transmembrane	296 – 316	21	Helical; Potential
	Transmembrane	383 – 403	21	Helical; Potential
	Domain	148 – 437	290	ABC transmembrane type-1
	Domain	472 – 709	238	ABC transporter
	Nucleotide binding	507 – 514	8	ATP Potential
Natural variations
	Alternative sequence	33 – 49	17	Missing in isoform Short.		VSP_000026
	Natural variant	152	1	V → I. Ref.7		VAR_013331
	Natural variant	165	1	I → T in a breast cancer sample; somatic mutation. Ref.8		VAR_035733
	Natural variant	690	1	A → G in a breast cancer sample; somatic mutation. Ref.8		VAR_035734
Experimental info
	Mutagenesis	512 – 513	2	GK → AR: Renders the protein unstable.
	Sequence conflict	174	1	E → K in AAD15748. Ref.1
	Sequence conflict	239	1	D → N in AAD15748. Ref.1
	Sequence conflict	278	1	T → S in AAD15748. Ref.1
	Sequence conflict	326	1	Q → H in AAD15748. Ref.1
	Sequence conflict	347	1	F → L in AAD15748. Ref.1
	Sequence conflict	365	1	R → H in BAA92038. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified April 3, 2007. Version 3. Checksum: B7E02B063E6C6F3B	FASTA	735	79,989
	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
	Isoform Short [UniParc]. Checksum: B082E28433C7BC0D	FASTA	718	78,081
	10 20 30 40 50 60 MLVHLFRVGI RGGPFPGRLL PPLRFQTFSA VRYSDGYRSS SLLRAVAHLR SQLWAHLPRA 70 80 90 100 110 120 PLAPRWSPSA WCWVGGALLG PMVLSKHPHL CLVALCEAEE APPASSTPHV VGSRFNWKLF 130 140 150 160 170 180 WQFLHPHLLV LGVAVVLALG AALVNVQIPL LLGQLVEVVA KYTRDHVGSF MTESQNLSTH 190 200 210 220 230 240 LLILYGVQGL LTFGYLVLLS HVGERMAVDM RRALFSSLLR QDITFFDANK TGQLVSRLTT 250 260 270 280 290 300 DVQEFKSSFK LVISQGLRSC TQVAGCLVSL SMLSTRLTLL LMVATPALMG VGTLMGSGLR 310 320 330 340 350 360 KLSRQCQEQI ARAMGVADEA LGNVRTVRAF AMEQREEERY GAELEACRCR AEELGRGIAL 370 380 390 400 410 420 FQGLSNIAFN CMVLGTLFIG GSLVAGQQLT GGDLMSFLVA SQTVQRSMAN LSVLFGQVVR 430 440 450 460 470 480 GLSAGARVFE YMALNPCIPL SGGCCVPKEQ LRGSVTFQNV CFSYPCRPGF EVLKDFTLTL 490 500 510 520 530 540 PPGKIVALVG QSGGGKTTVA SLLERFYDPT AGVVMLDGRD LRTLDPSWLR GQVVGFISQE 550 560 570 580 590 600 PVLFGTTIME NIRFGKLEAS DEEVYTAARE ANAHEFITSF PEGYNTVVGE RGTTLSGGQK 610 620 630 640 650 660 QRLAIARALI KQPTVLILDE ATSALDAESE RVVQEALDRA SAGRTVLVIA HRLSTVRGAH 670 680 690 700 710 CIVVMADGRV WEAGTHEELL KKGGLYAELI RRQALDAPRT AAPPPKKPEG PRSHQHKS

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00019022. IPI00719730.
RefSeq	NP_009119.2. NM_007188.3.
UniGene	Hs.647118.
3D structure databases
ProteinModelPortal	Q9NUT2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NUT2. 2 interactions.
MINT	MINT-1381060.
STRING	9606.ENSP00000351717.
PTM databases
PhosphoSite	Q9NUT2.
Polymorphism databases
DMDM	143811358.
Proteomic databases
PaxDb	Q9NUT2.
PRIDE	Q9NUT2.
Protocols and materials databases
DNASU	11194.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297504; ENSP00000297504; ENSG00000197150. ENST00000358849; ENSP00000351717; ENSG00000197150.
GeneID	11194.
KEGG	hsa:11194.
UCSC	uc003wik.4. human. uc003wil.4. human.
Organism-specific databases
CTD	11194.
GeneCards	GC07P150725.
H-InvDB	HIX0007220.
HGNC	HGNC:49. ABCB8.
HPA	HPA045187.
MIM	605464. gene.
neXtProt	NX_Q9NUT2.
PharmGKB	PA24390.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1132.
HOVERGEN	HBG008358.
InParanoid	Q9NUT2.
KO	K05655.
OMA	VTFQNVC.
PhylomeDB	Q9NUT2.
Enzyme and pathway databases
BRENDA	3.6.3.43. 2681.
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q9NUT2.
Bgee	Q9NUT2.
CleanEx	HS_ABCB8.
Genevestigator	Q9NUT2.
GermOnline	ENSG00000197150. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR001140. ABC_transptr_TM_dom. IPR011527. ABC_transptrTM_dom_typ1. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
SUPFAM	SSF90123. ABC_TM_1. 1 hit.
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	11194.
NextBio	42609.
SOURCE	Search...

Entry information

Entry name

ABCB8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 126 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.