Reviewed, UniProtKB/Swiss-Prot Q9NUT2 (ABCB8_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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.
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
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	ATP-binding cassette (ABC) transporter complex Ref.1 Traceable author statement. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Ref.1 Traceable author statement. Source: ProtInc mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Ref.1 Traceable author statement. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Inferred from electronic annotation. Source: InterPro
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 – ?		Mitochondrion Potential
	Chain	? – 735		ATP-binding cassette sub-family B member 8, mitochondrial		PRO_0000000251
Regions
	Transmembrane	86 – 102	17	Potential
	Transmembrane	145 – 165	21	Potential
	Transmembrane	196 – 216	21	Potential
	Transmembrane	296 – 316	21	Potential
	Transmembrane	383 – 403	21	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		VAR_013331
	Natural variant	165	1	I → T in a breast cancer sample; somatic mutation. Ref.7		VAR_035733
	Natural variant	690	1	A → G in a breast cancer sample; somatic mutation. Ref.7		VAR_035734
Experimental info
	Mutagenesis	512 – 513	2	GK → AR: Renders the protein instable.
	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. 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: 9878413] [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: 14702039] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
[6]	"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: 11829140] [Abstract] Cited for: VARIANT ILE-152.
[7]	"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: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-165 AND GLY-690.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
UniGene	Hs.647118
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NUT2. 2 interactions.
STRING	Q9NUT2.
Proteomic databases
PRIDE	Q9NUT2.
Genome annotation databases
Ensembl	ENST00000297504; ENSP00000297504; ENSG00000197150; Homo sapiens. [Genome view]
GeneID	11194.
KEGG	hsa:11194.
NMPDR	fig|9606.3.peg.29710.
UCSC	uc003wik.2. human. uc003wil.2. human.
Organism-specific databases
CTD	11194.
GeneCards	GC07P150356.
H-InvDB	HIX0007220.
HGNC	HGNC:49. ABCB8.
MIM	605464. gene.
PharmGKB	PA24390.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9NUT2.
HOVERGEN	Q9NUT2.
OMA	HEFITSF
Enzyme and pathway databases
BRENDA	3.6.3.43. 247.
Gene expression databases
ArrayExpress	Q9NUT2.
Bgee	Q9NUT2.
CleanEx	HS_ABCB8.
Genevestigator	Q9NUT2.
GermOnline	ENSG00000197150. Homo sapiens.
Family and domain databases
InterPro	IPR011527. ABC_TM_1. IPR001140. ABC_TM_transpt. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR003593. ATPase_AAA+_core. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 24, 2009
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.