ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))

Gene

• Entrez ID: 10058
• Gene name: ATP binding cassette subfamily B member 6 (Langereis blood group)
• Gene symbol: ABCB6
• Synonyms: ABC, LAN, MTABC3, PRP, umat
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148211042	C>T	Pathogenic	Missense variant, coding sequence variant
rs148458820	C>T	Affects	Coding sequence variant, stop gained
rs149202834	G>A	Affects	Missense variant, coding sequence variant, intron variant
rs376664522	G>A	Affects	Coding sequence variant, stop gained
rs387906908	AT>-	Affects	Coding sequence variant, frameshift variant
rs387906909	AG>-	Affects	Coding sequence variant, frameshift variant
rs387906911	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514756	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514757	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514758	C>T	Pathogenic	Coding sequence variant, missense variant
rs754667801	C>T	Pathogenic	Missense variant, coding sequence variant
rs764893806	G>A	Pathogenic	Coding sequence variant, missense variant
rs765925019	GATCCGC>-,GATCCGCGATCCGC	Affects	Frameshift variant, coding sequence variant
rs796065353	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs879255549	C>T	Affects	Splice acceptor variant
rs1559234527	A>C	Affects	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023567	hsa-miR-1-3p	Proteomics	18668040
MIRT029048	hsa-miR-26b-5p	Microarray	19088304
MIRT531711	hsa-miR-7113-5p	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005524	Function	ATP binding	IDA	10837493
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	10837493
GO:0005739	Component	Mitochondrion	IDA	18279659
GO:0005740	Component	Mitochondrial envelope	IDA	10837493
GO:0005741	Component	Mitochondrial outer membrane	IDA	17006453
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005768	Component	Endosome	ISS
GO:0005774	Component	Vacuolar membrane	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	22226084
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18279659, 22226084
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	17661442
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IDA	17006453
GO:0006879	Process	Cellular iron ion homeostasis	NAS	11977179
GO:0007420	Process	Brain development	IMP	22100072
GO:0010008	Component	Endosome membrane	IEA
GO:0015439	Function	ABC-type heme transporter activity	IBA	21873635
GO:0015439	Function	ABC-type heme transporter activity	IMP	17006453
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	17661442
GO:0015886	Process	Heme transport	IBA	21873635
GO:0015886	Process	Heme transport	IDA	17661442
GO:0015886	Process	Heme transport	IMP	17006453
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016887	Function	ATPase activity	IEA
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	17006453
GO:0031307	Component	Integral component of mitochondrial outer membrane	IDA	17661442
GO:0035351	Process	Heme transmembrane transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	NAS	11955620
GO:0043588	Process	Skin development	IMP	22100072
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 605452
• HGNC: 47
• e!Ensembl: ENSG00000115657

Protein

• UniProt ID: Q9NP58
• Protein name: ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)
• Protein function: ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:33007128, PubMed:27507172, PubMed:17661442, PubMed:23792964). May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turns may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydrazine stress (PubMed:17006453, PubMed:10837493, PubMed:23792964, PubMed:33007128). May also play a key role in the early steps of melanogenesis producing PMEL amyloid fibrils (PubMed:29940187). In vitro, it confers to cells a resistance to toxic metal such as arsenic and cadmium and against chemotherapeutics agent such as 5-fluorouracil, SN-38 and vincristin (PubMed:25202056, PubMed:21266531, PubMed:31053883). In addition may play a role in the transition metal homeostasis (By similarity).
• PDB: 3NH6, 3NH9, 3NHA, 3NHB, 7D7N, 7D7R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16185	MTABC_N	6 → 255	Mitochondrial ABC-transporter N-terminal five TM region	Family
  PF00664	ABC_membrane	265 → 544	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	606 → 755	ABC transporter	Domain

• Sequence:

  MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGAD
  SLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGAC
  GLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADL
  GQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDVERSQVRSAAQQSTWR
  DFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWN
  SLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRW
  HLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC
  MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAI
  IKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQL
  YMPLNWFGTYYRMIQTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYA
  DGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQA
  SLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQV
  GERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIV
  VAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTM
  ER

• Sequence length: 842