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Q9NP58 (ABCB6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family B member 6, mitochondrial
Alternative name(s):
Mitochondrial ABC transporter 3
Short name=Mt-ABC transporter 3
P-glycoprotein-related protein
Ubiquitously-expressed mammalian ABC half transporter
Gene names
Name:ABCB6
Synonyms:MTABC3, PRP, UMAT
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length842 AA.
Sequence statusComplete.
Protein existenceEvidence 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 Ref.1 Ref.8.

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 AAG33617.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAG33618.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH43423.1 differs from that shown. Reason: 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: Chimeric cDNA.

Isoform 2: The sequence BAB71347.1 differs from that shown. Reason: splicing through aberrant splice sites

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 842842ATP-binding cassette sub-family B member 6, mitochondrial
PRO_0000000248

Regions

Transmembrane27 – 4721Helical; Potential
Transmembrane73 – 9321Helical; Potential
Transmembrane107 – 12721Helical; Potential
Transmembrane148 – 16821Helical; Potential
Transmembrane186 – 20621Helical; Potential
Transmembrane265 – 28521Helical; Potential
Transmembrane376 – 39621Helical; Potential
Transmembrane409 – 43123Helical; Potential
Transmembrane502 – 52221Helical; Potential
Transmembrane530 – 55021Helical; Potential
Domain265 – 556292ABC transmembrane type-1
Domain590 – 824235ABC transporter
Nucleotide binding623 – 6308ATP Potential

Natural variations

Alternative sequence183 – 22846Missing in isoform 2.
VSP_021973
Natural variant691R → G in a breast cancer sample; somatic mutation. Ref.10
VAR_035732
Natural variant2931L → V.
Corresponds to variant rs13018440 [ dbSNP | Ensembl ].
VAR_047552
Natural variant3431R → Q.
Corresponds to variant rs60322991 [ dbSNP | Ensembl ].
VAR_060986
Natural variant6481R → Q.
Corresponds to variant rs13402964 [ dbSNP | Ensembl ].
VAR_029749

Experimental info

Sequence conflict1701S → N in AAG33618. Ref.2
Sequence conflict3201T → S in BAD18782. Ref.4
Sequence conflict4131F → S in BAD18782. Ref.4
Sequence conflict6161G → E in BAD18782. Ref.4
Sequence conflict6381R → L in BAD18782. Ref.4

Secondary structure

........................................ 842
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: E63A7D59DCE5B9ED

FASTA84293,886
        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 

« Hide

Isoform 2 [UniParc].

Checksum: A72DFA31D8C77FFE
Show »

FASTA79688,600

References

« Hide '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. 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: 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. 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: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-69.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
IPIIPI00065486.
IPI00742677.
RefSeqNP_005680.1. NM_005689.2.
UniGeneHs.107911.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3NH6X-ray2.00A558-842[»]
3NH9X-ray2.10A558-842[»]
3NHAX-ray2.10A558-842[»]
3NHBX-ray2.15A558-842[»]
ProteinModelPortalQ9NP58.
SMRQ9NP58. Positions 243-828.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9NP58. 2 interactions.
STRINGQ9NP58.

Protein family/group databases

TCDB3.A.1.210.6. ATP-binding cassette (ABC) superfamily.

Polymorphism databases

DMDM13123949.

Proteomic databases

PRIDEQ9NP58.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265316; ENSP00000265316; ENSG00000115657.
GeneID10058.
KEGGhsa:10058.
UCSCuc002vkc.1. human.

Organism-specific databases

CTD10058.
GeneCardsGC02M220038.
H-InvDBHIX0200271.
HGNCHGNC:47. ABCB6.
HPAHPA046723.
MIM605452. gene.
neXtProtNX_Q9NP58.
PharmGKBPA24388.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG16479.
GeneTreeENSGT00440000033373.
HOVERGENHBG080810.
InParanoidQ9NP58.
OMAYNAEGYE.
OrthoDBEOG45QHCP.
PhylomeDBQ9NP58.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ9NP58.
CleanExHS_ABCB6.
GenevestigatorQ9NP58.
GermOnlineENSG00000115657. Homo sapiens.

Family and domain databases

InterProIPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR017940. ABC_transporter_type1.
IPR001140. ABC_transptr_TM_dom.
IPR011527. ABC_transptrTM_dom_typ1.
IPR003593. ATPase_AAA+_core.
[Graphical view]
KOK05661.
PfamPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF90123. ABC_TM_1. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio38003.
SOURCESearch...

Entry information

Entry nameABCB6_HUMAN
AccessionPrimary (citable) accession number: Q9NP58
Secondary accession number(s): O75542 expand/collapse secondary AC list , Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6, Q9HAQ7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: October 1, 2000
Last modified: January 25, 2012
This is version 115 of the entry and version 1 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

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families