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

Gene

• Entrez ID: 10058
• Gene name: ATP binding cassette subfamily B member 6 (LAN 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 p

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
MIRT531711	hsa-miR-7113-5p	PAR-CLIP	22012620
MIRT1923590	hsa-miR-3677-5p	CLIP-seq
MIRT1923591	hsa-miR-3926	CLIP-seq
MIRT1923592	hsa-miR-3938	CLIP-seq
MIRT1923593	hsa-miR-4795-5p	CLIP-seq
MIRT1923594	hsa-miR-548s	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165065	hsa-miR-29a	CLIP-seq
MIRT2165066	hsa-miR-29b	CLIP-seq
MIRT2165067	hsa-miR-29c	CLIP-seq
MIRT2165068	hsa-miR-3153	CLIP-seq
MIRT2165069	hsa-miR-4428	CLIP-seq
MIRT2165070	hsa-miR-621	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165071	hsa-miR-767-5p	CLIP-seq

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:17661442, PubMed:23792964, PubMed:27507172, PubM
• PDB: 3NH6, 3NH9, 3NHA, 3NHB, 7D7N, 7D7R, 7DNY, 7DNZ, 7EKL, 7EKM, 8FWK, 8K7B, 8K7C, 8YR3, 8YR4, 9DBQ
• 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