Reviewed, UniProtKB/Swiss-Prot Q9NP58 (ABCB6_HUMAN)

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family B member 6, mitochondrial
Alternative name(s):
    Mitochondrial ABC transporter 3
      Short name=Mt-ABC transporter 3
    Ubiquitously-expressed mammalian ABC half transporter
    P-glycoprotein-related protein

Gene names

Name:	ABCB6
Synonyms:	MTABC3, PRP, UMAT

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	842 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. Ref.1 Ref.8
Subunit structure	Homodimer. Ref.8
Subcellular location	Mitochondrion outer membrane; Multi-pass membrane protein.
Tissue specificity	Widely expressed. Highest expression in heart and skeletal muscles. Ref.1
Developmental stage	Highly expressed in fetal liver. Ref.8
Induction	Up-regulated by cellular porphyrins (at protein level). Ref.8
Miscellaneous	Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. [View classification] Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain.
Sequence caution	The sequence AAH43423.1 differs from that shown. Reason: Miscellaneous discrepancy. Intron retention. The sequence BAD18782.1 differs from that shown. Reason: Erroneous termination at position 168. Translated as Trp. The sequence BAD92291.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimeric cDNA.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cellular iron ion homeostasis Non-traceable author statement. Source: UniProtKB transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	ATP-binding cassette (ABC) transporter complex Ref.2 Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrial outer membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Ref.1 Inferred from direct assay. Source: MGI 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 1 (identifier: Q9NP58-1)

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 2 (identifier: Q9NP58-4)

The sequence of this isoform differs from the canonical sequence as follows:
     183-228: Missing.

Note: Ref.4 (BAB71347) sequence differs from that shown due to splicing through aberrant splice sites.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 842	842	ATP-binding cassette sub-family B member 6, mitochondrial		PRO_0000000248
Regions
	Transmembrane	27 – 47	21	Potential
	Transmembrane	73 – 93	21	Potential
	Transmembrane	107 – 127	21	Potential
	Transmembrane	148 – 168	21	Potential
	Transmembrane	186 – 206	21	Potential
	Transmembrane	265 – 285	21	Potential
	Transmembrane	376 – 396	21	Potential
	Transmembrane	409 – 431	23	Potential
	Transmembrane	502 – 522	21	Potential
	Transmembrane	530 – 550	21	Potential
	Domain	265 – 556	292	ABC transmembrane type-1
	Domain	590 – 824	235	ABC transporter
	Nucleotide binding	623 – 630	8	ATP Potential
Natural variations
	Alternative sequence	183 – 228	46	Missing in isoform 2.		VSP_021973
	Natural variant	69	1	R → G in a breast cancer sample; somatic mutation. Ref.10		VAR_035732
	Natural variant	293	1	L → V: dbSNP rs13018440.		VAR_047552
	Natural variant	648	1	R → Q: dbSNP rs13402964.		VAR_029749
Experimental info
	Sequence conflict	170	1	S → N in AAG33618. Ref.2
	Sequence conflict	320	1	T → S in BAD18782. Ref.4
	Sequence conflict	413	1	F → S in BAD18782. Ref.4
	Sequence conflict	616	1	G → E in BAD18782. Ref.4
	Sequence conflict	638	1	R → L in BAD18782. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: E63A7D59DCE5B9ED	FASTA	842	93,886
	10 20 30 40 50 60 MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC RRRERPAGAD 70 80 90 100 110 120 SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG APLPSYLLLA SVLESLAGAC 130 140 150 160 170 180 GLWLLVVERS QARQRLAMGI WIKFRHSPGL LLLWTVAFAA ENLALVSWNS PQWWWARADL 190 200 210 220 230 240 GQQVQFSLWV LRYVVSGGLF VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR 250 260 270 280 290 300 DFGRKLRLLS GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN 310 320 330 340 350 360 SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF SHLHELSLRW 370 380 390 400 410 420 HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII GIIYFSMFFN AWFGLIVFLC 430 440 450 460 470 480 MSLYLTLTIV VTEWRTKFRR AMNTQENATR ARAVDSLLNF ETVKYYNAES YEVERYREAI 490 500 510 520 530 540 IKYQGLEWKS SASLVLLNQT QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL 550 560 570 580 590 600 YMPLNWFGTY YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA 610 620 630 640 650 660 DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID GQDISQVTQA 670 680 690 700 710 720 SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA QAAGIHDAIM AFPEGYRTQV 730 740 750 760 770 780 GERGLKLSGG EKQRVAIART ILKAPGIILL DEATSALDTS NERAIQASLA KVCANRTTIV 790 800 810 820 830 840 VAHRLSTVVN ADQILVIKDG CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM ER
	Isoform 2. Checksum: A72DFA31D8C77FFE	FASTA	796	88,600
	10 20 30 40 50 60 MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC RRRERPAGAD 70 80 90 100 110 120 SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG APLPSYLLLA SVLESLAGAC 130 140 150 160 170 180 GLWLLVVERS QARQRLAMGI WIKFRHSPGL LLLWTVAFAA ENLALVSWNS PQWWWARADL 190 200 210 220 230 240 GQQVRSAAQQ STWRDFGRKL RLLSGYLWPR GSPALQLVVL ICLGLMGLER ALNVLVPIFY 250 260 270 280 290 300 RNIVNLLTEK APWNSLAWTV TSYVFLKFLQ GGGTGSTGFV SNLRTFLWIR VQQFTSRRVE 310 320 330 340 350 360 LLIFSHLHEL SLRWHLGRRT GEVLRIADRG TSSVTGLLSY LVFNVIPTLA DIIIGIIYFS 370 380 390 400 410 420 MFFNAWFGLI VFLCMSLYLT LTIVVTEWRT KFRRAMNTQE NATRARAVDS LLNFETVKYY 430 440 450 460 470 480 NAESYEVERY REAIIKYQGL EWKSSASLVL LNQTQNLVIG LGLLAGSLLC AYFVTEQKLQ 490 500 510 520 530 540 VGDYVLFGTY IIQLYMPLNW FGTYYRMIQT NFIDMENMFD LLKEETEVKD LPGAGPLRFQ 550 560 570 580 590 600 KGRIEFENVH FSYADGRETL QDVSFTVMPG QTLALVGPSG AGKSTILRLL FRFYDISSGC 610 620 630 640 650 660 IRIDGQDISQ VTQASLRSHI GVVPQDTVLF NDTIADNIRY GRVTAGNDEV EAAAQAAGIH 670 680 690 700 710 720 DAIMAFPEGY RTQVGERGLK LSGGEKQRVA IARTILKAPG IILLDEATSA LDTSNERAIQ 730 740 750 760 770 780 ASLAKVCANR TTIVVAHRLS TVVNADQILV IKDGCIVERG RHEALLSRGG VYADMWQLQQ 790 GQEETSEDTK PQTMER

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis." Mitsuhashi N., Miki T., Senbongi H., Yokoi N., Yano H., Miyazaki M., Nakajima N., Iwanaga T., Yokoyama Y., Shibata T., Seino S. J. Biol. Chem. 275:17536-17540(2000) [PubMed: 10837493] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[2]	"Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6." Emadi-Konjin H.-P., Zhang H., Anandan V., Sun D., Schuetz J.D., Furuya K.N. Biochim. Biophys. Acta 1574:117-130(2002) [PubMed: 11955620] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-229. Tissue: Colon and Liver.
[3]	"Subcellular localization of the ABC transporter umat." Hirsch-Ernst K.I., Schaefer A., Ernst B.-P., Schmitz-Salue C., Awuah D., Kahl G.F. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 112-842 (ISOFORM 1). Tissue: Hepatoma and Neuroepithelium.
[5]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[6]	"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 1). Tissue: Brain.
[7]	Yu W., Gibbs R.A. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-842 (ISOFORM 1). Tissue: Brain.
[8]	"Identification of a mammalian mitochondrial porphyrin transporter." Krishnamurthy P.C., Du G., Fukuda Y., Sun D., Sampath J., Mercer K.E., Wang J., Sosa-Pineda B., Murti K.G., Schuetz J.D. Nature 443:586-589(2006) [PubMed: 17006453] [Abstract] Cited for: FUNCTION, DEVELOPMENTAL STAGE, INDUCTION BY CELLULAR PORPHYRINS, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH HEMIN.
[9]	"Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6." Kurashima-Ito K., Ikeya T., Senbongi H., Tochio H., Mikawa T., Shibata T., Ito Y. J. Biomol. NMR 35:53-71(2006) [PubMed: 16791740] [Abstract] Cited for: STRUCTURE BY NMR OF 558-842 IN COMPLEX WITH ADP.
[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] GLY-69.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB039371 Genomic DNA. Translation: BAA96733.1. AF076775 mRNA. Translation: AAF75107.1. AF308472 mRNA. Translation: AAG33617.1. Different initiation. AF308473 Genomic DNA. Translation: AAG33618.1. Different initiation. AJ289233 mRNA. Translation: CAB95766.2. AK057026 mRNA. Translation: BAB71347.1. Sequence problems. AK172812 mRNA. Translation: BAD18782.1. Sequence problems. AB209054 mRNA. Translation: BAD92291.1. Sequence problems. BC000559 mRNA. Translation: AAH00559.1. BC043423 mRNA. Translation: AAH43423.1. Sequence problems. AF070598 mRNA. Translation: AAC28653.1.
IPI	IPI00065486. IPI00742677.
RefSeq	NP_005680.1.
UniGene	Hs.107911 Hs.715222
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NP58. 2 interactions.
STRING	Q9NP58.
Protein family/group databases
TCDB	3.A.1.210.6. ATP-binding cassette (ABC) superfamily.
Proteomic databases
PRIDE	Q9NP58.
Genome annotation databases
Ensembl	ENST00000265316; ENSP00000265316; ENSG00000115657; Homo sapiens. [Genome view]
GeneID	10058.
KEGG	hsa:10058.
UCSC	uc002vkc.1. human.
Organism-specific databases
CTD	10058.
GeneCards	GC02M219782.
H-InvDB	HIX0002852. HIX0077803.
HGNC	HGNC:47. ABCB6.
MIM	605452. gene.
PharmGKB	PA24388.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NP58.
OMA	CMSLYLI
OrthoDB	EOG9K9DZP
Gene expression databases
CleanEx	HS_ABCB6.
Genevestigator	Q9NP58.
GermOnline	ENSG00000115657. 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	38003.
SOURCE	Search...

Entry information

Entry name

ABCB6_HUMAN

Accession

Primary (citable) accession number: Q9NP58
Secondary accession number(s): O75542 , Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6, Q9HAQ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	October 1, 2000
Last modified:	November 24, 2009
This is version 95 of the entry and version 1 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.