Details for: ABCB6

Gene ID: 10058

Symbol: ABCB6

Ensembl ID: ENSG00000115657

Description: ATP binding cassette subfamily B member 6 (LAN blood group)

Associated with

Other Information

Genular Protein ID: 3684814406

Symbol: ABCB6_HUMAN

Name: P-glycoprotein-related protein

UniProtKB Accession Codes:

Q9NP58 O75542 Q49A66 Q59GQ5 Q6ZME6 Q96ME8 Q9HAQ6 Q9HAQ7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 50 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 EMDB 6 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 13 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 16 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10837493

Title: MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis.

PubMed ID: 10837493

DOI: 10.1074/jbc.275.23.17536

PubMed ID: 11955620

Title: Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6.

PubMed ID: 11955620

DOI: 10.1016/s0167-4781(01)00340-2

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17006453

Title: Identification of a mammalian mitochondrial porphyrin transporter.

PubMed ID: 17006453

DOI: 10.1038/nature05125

PubMed ID: 17661442

Title: Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane.

PubMed ID: 17661442

DOI: 10.1021/bi700015m

PubMed ID: 18279659

Title: Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus.

PubMed ID: 18279659

DOI: 10.1016/j.bbrc.2008.02.027

PubMed ID: 21199866

Title: Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.

PubMed ID: 21199866

DOI: 10.1074/jbc.m110.174516

PubMed ID: 21266531

Title: The ATP-binding cassette transporter ABCB6 is induced by arsenic and protects against arsenic cytotoxicity.

PubMed ID: 21266531

DOI: 10.1093/toxsci/kfr008

PubMed ID: 22655043

Title: Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes.

PubMed ID: 22655043

DOI: 10.1371/journal.pone.0037378

PubMed ID: 22226084

Title: ABCB6 mutations cause ocular coloboma.

PubMed ID: 22226084

DOI: 10.1016/j.ajhg.2011.11.026

PubMed ID: 22246506

Title: ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis.

PubMed ID: 22246506

DOI: 10.1038/ng.1069

PubMed ID: 23180570

Title: Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

PubMed ID: 23180570

DOI: 10.1002/ajh.23357

PubMed ID: 23792964

Title: Efficient purification and reconstitution of ATP binding cassette transporter B6 (ABCB6) for functional and structural studies.

PubMed ID: 23792964

DOI: 10.1074/jbc.m113.485284

PubMed ID: 25202056

Title: Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.

PubMed ID: 25202056

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25627919

Title: Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein.

PubMed ID: 25627919

DOI: 10.1042/bj20141085

PubMed ID: 29940187

Title: ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation.

PubMed ID: 29940187

DOI: 10.1016/j.jmb.2018.06.033

PubMed ID: 31053883

Title: The human ABCB6 protein is the functional homologue of HMT-1 proteins mediating cadmium detoxification.

PubMed ID: 31053883

DOI: 10.1007/s00018-019-03105-5

PubMed ID: 24947683

Title: Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

PubMed ID: 24947683

DOI: 10.1111/trf.12757

PubMed ID: 16791740

Title: Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6.

PubMed ID: 16791740

DOI: 10.1007/s10858-006-9000-6

PubMed ID: 20823549

Title: Structures of the nucleotide-binding domain of the human ABCB6 transporter and its complexes with nucleotides.

PubMed ID: 20823549

DOI: 10.1107/s0907444910028593

PubMed ID: 33007128

Title: Cryo-electron microscopy structure of human ABCB6 transporter.

PubMed ID: 33007128

DOI: 10.1002/pro.3960

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 23519333

Title: Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

PubMed ID: 23519333

DOI: 10.1038/jid.2013.145

PubMed ID: 24224009

Title: Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

PubMed ID: 24224009

DOI: 10.1371/journal.pone.0079808

PubMed ID: 25288164

Title: Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

PubMed ID: 25288164

DOI: 10.1016/j.jdermsci.2014.08.015

PubMed ID: 24498303

Title: Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

PubMed ID: 24498303

DOI: 10.1371/journal.pone.0087250

PubMed ID: 27507172

Title: The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

PubMed ID: 27507172

DOI: 10.1038/ncomms12353

Sequence Information:

  • Length: 842
  • Mass: 93886
  • Checksum: E63A7D59DCE5B9ED
  • Sequence:
    • MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC RRRERPAGAD 
SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG APLPSYLLLA SVLESLAGAC 
GLWLLVVERS QARQRLAMGI WIKFRHSPGL LLLWTVAFAA ENLALVSWNS PQWWWARADL 
GQQVQFSLWV LRYVVSGGLF VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR 
DFGRKLRLLS GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN 
SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF SHLHELSLRW 
HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII GIIYFSMFFN AWFGLIVFLC 
MSLYLTLTIV VTEWRTKFRR AMNTQENATR ARAVDSLLNF ETVKYYNAES YEVERYREAI 
IKYQGLEWKS SASLVLLNQT QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL 
YMPLNWFGTY YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA 
DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID GQDISQVTQA 
SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA QAAGIHDAIM AFPEGYRTQV 
GERGLKLSGG EKQRVAIART ILKAPGIILL DEATSALDTS NERAIQASLA KVCANRTTIV 
VAHRLSTVVN ADQILVIKDG CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM 
ER

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.