Reviewed, UniProtKB/Swiss-Prot Q9NRK6 (ABCBA_HUMAN)

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family B member 10, mitochondrial
Alternative name(s):
    ATP-binding cassette transporter 10
      Short name=ABC transporter 10 protein
    Mitochondrial ATP-binding cassette 2
      Short name=M-ABC2

Gene names

Name:

ABCB10

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	738 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)

Function	May mediate critical mitochondrial transport functions related to heme biosynthesis By similarity.
Subunit structure	Homodimer or heterodimer Potential.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein.
Tissue specificity	Ubiquitous. Highly expressed in bone marrow, expressed at intermediate to high levels in skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea and adrenal gland, and low levels are found in lung, kidney, spleen, thymus and colon.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) 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	Polymorphism
Domain	Transit peptide Transmembrane
Ligand	ATP-binding Nucleotide-binding
PTM	Acetylation
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 Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Non-traceable author statement. Source: UniProtKB ATPase activity, coupled to transmembrane movement of substances Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential
	Chain	? – 738		ATP-binding cassette sub-family B member 10, mitochondrial		PRO_0000000255
Regions
	Topological domain	? – 170		Mitochondrial intermembrane Potential
	Transmembrane	171 – 191	21	Potential
	Topological domain	192 – 215	24	Mitochondrial matrix Potential
	Transmembrane	216 – 236	21	Potential
	Topological domain	237 – 312	76	Mitochondrial intermembrane Potential
	Transmembrane	313 – 333	21	Potential
	Topological domain	334 – 407	74	Mitochondrial matrix Potential
	Transmembrane	408 – 428	21	Potential
	Topological domain	429 – 430	2	Mitochondrial intermembrane Potential
	Transmembrane	431 – 451	21	Potential
	Topological domain	452 – 738	287	Mitochondrial matrix Potential
	Domain	171 – 457	287	ABC transmembrane type-1
	Domain	492 – 731	240	ABC transporter
	Nucleotide binding	527 – 534	8	ATP Potential
Amino acid modifications
	Modified residue	265	1	N6-acetyllysine Ref.8
Natural variations
	Natural variant	150	1	A → S: dbSNP rs4148756. Ref.9		VAR_013702
	Natural variant	242	1	R → G: dbSNP rs17584642.		VAR_048133
	Natural variant	471	1	R → T in a breast cancer sample; somatic mutation. Ref.10		VAR_035735
	Natural variant	545	1	D → N: dbSNP rs35698797. Ref.1		VAR_031435
Experimental info
	Sequence conflict	393	1	F → V in AAF78198. Ref.1
	Sequence conflict	511	1	Q → K in AAA84438. Ref.6
	Sequence conflict	558 – 563	6	IRQLNP → NPSAKPS in AAA84438. Ref.6
	Sequence conflict	606 – 611	6	VAEVAN → GLKGQ in BAB20265. Ref.2
	Sequence conflict	615 – 622	8	FIRNFPQG → SPEFPPR in AAA84438. Ref.6
	Sequence conflict	691	1	R → S in AAA84438. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q9NRK6-1 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: C68B4FAC0F8B7E43	FASTA	738	79,148
	10 20 30 40 50 60 MRGPPAWPLR LLEPPSPAEP GRLLPVACVW AAASRVPGSL SPFTGLRPAR LWGAGPALLW 70 80 90 100 110 120 GVGAARRWRS GCRGGGPGAS RGVLGLARLL GLWARGPGSC RCGAFAGPGA PRLPRARFPG 130 140 150 160 170 180 GPAAAAWAGD EAWRRGPAAP PGDKGRLRPA AAGLPEARKL LGLAYPERRR LAAAVGFLTM 190 200 210 220 230 240 SSVISMSAPF FLGKIIDVIY TNPTVDYSDN LTRLCLGLSA VFLCGAAANA IRVYLMQTSG 250 260 270 280 290 300 QRIVNRLRTS LFSSILRQEV AFFDKTRTGE LINRLSSDTA LLGRSVTENL SDGLRAGAQA 310 320 330 340 350 360 SVGISMMFFV SPNLATFVLS VVPPVSIIAV IYGRYLRKLT KVTQDSLAQA TQLAEERIGN 370 380 390 400 410 420 VRTVRAFGKE MTEIEKYASK VDHVMQLARK EAFARAGFFG ATGLSGNLIV LSVLYKGGLL 430 440 450 460 470 480 MGSAHMTVGE LSSFLMYAFW VGISIGGLSS FYSELMKGLG AGGRLWELLE REPKLPFNEG 490 500 510 520 530 540 VILNEKSFQG ALEFKNVHFA YPARPEVPIF QDFSLSIPSG SVTALVGPSG SGKSTVLSLL 550 560 570 580 590 600 LRLYDPASGT ISLDGHDIRQ LNPVWLRSKI GTVSQEPILF SCSIAENIAY GADDPSSVTA 610 620 630 640 650 660 EEIQRVAEVA NAVAFIRNFP QGFNTVVGEK GVLLSGGQKQ RIAIARALLK NPKILLLDEA 670 680 690 700 710 720 TSALDAENEY LVQEALDRLM DGRTVLVIAH RLSTIKNANM VAVLDQGKIT EYGKHEELLS 730 KPNGIYRKLM NKQSFISA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"M-ABC2, a new human mitochondrial ATP-binding cassette membrane protein." Zhang F., Hogue D.L., Liu L., Fisher C.L., Hui D., Childs S., Ling V. FEBS Lett. 478:89-94(2000) [PubMed: 10922475] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-545. Tissue: Lymphoblast.
[2]	"Human mono ATP-binding cassette protein." Ito K., Suzuki H., Sugiyama Y. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 (JUL-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]. Tissue: Eye.
[6]	"Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database." Allikmets R., Gerrard B., Glavac D., Ravnik-Glavac M., Jenkins N.A., Gilbert D.J., Copeland N.G., Modi W., Dean M. Mamm. Genome 6:114-117(1995) [PubMed: 7766993] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 510-738.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-265, MASS SPECTROMETRY.
[9]	"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 SER-150.
[10]	"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: VARIANT [LARGE SCALE ANALYSIS] THR-471.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF216833 mRNA. Translation: AAF78198.1. AB013380 mRNA. Translation: BAB20265.1. AL121990 Genomic DNA. Translation: CAI22012.1. CH471098 Genomic DNA. Translation: EAW69901.1. BC064930 mRNA. Translation: AAH64930.1. U18237 mRNA. Translation: AAA84438.1.
IPI	IPI00015826.
RefSeq	NP_036221.2.
UniGene	Hs.17614
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NRK6.
Proteomic databases
PRIDE	Q9NRK6.
Genome annotation databases
Ensembl	ENST00000344517; ENSP00000355637; ENSG00000135776; Homo sapiens. [Genome view]
GeneID	23456.
KEGG	hsa:23456.
UCSC	uc001htp.2. human.
Organism-specific databases
CTD	23456.
GeneCards	GC01M227718.
H-InvDB	HIX0028493.
HGNC	HGNC:41. ABCB10.
MIM	605454. gene.
PharmGKB	PA24385.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9NRK6.
HOVERGEN	Q9NRK6.
OMA	KEMTEIE
OrthoDB	EOG97WR7R
Enzyme and pathway databases
BRENDA	3.6.3.43. 247.
Gene expression databases
ArrayExpress	Q9NRK6.
Bgee	Q9NRK6.
CleanEx	HS_ABCB10.
Genevestigator	Q9NRK6.
GermOnline	ENSG00000135776. 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	45747.
SOURCE	Search...

Entry information

Entry name

ABCBA_HUMAN

Accession

Primary (citable) accession number: Q9NRK6
Secondary accession number(s): Q13040, Q6P1Q8, Q9H3V0

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	April 3, 2007
Last modified:	November 24, 2009
This is version 82 of the entry and version 2 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.