• Gene id: 10058

Gene Summary

• Gene Symbol: ABCB6   Gene   UCSC   Ensembl
• Aliases: ABC, LAN, MTABC3, PRP, umat
• Gene name: ATP binding cassette subfamily B member 6 (Langereis blood group)
• Alternate names: ATP-binding cassette sub-family B member 6, mitochondrial, ATP-binding cassette half-transporter, ATP-binding cassette sub-family B member 6, ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group), P-glycoprotein-related protein, mitoch,
• Gene location: 2q35 (219218957: 219209771)     Exons: 19     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 617737

Protein Summary

• Protein general information: Q9NP58  
  • Name: ATP binding cassette sub family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt ABC transporter 3) (P glycoprotein related protein) (Ubiquitously expressed mammalian ABC half transporter)
  • Length: 842  
  • Mass: 93886
  • Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium. {ECO
• Sequence:

  MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRISPYVL
  QLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGL
  LLLWTVAFAAENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDV
  ERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWN
  SLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADR
  GTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLCMSLYLTLTIVVTEWRTKFRRAMNTQENATR
  ARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKL
  QVGDYVLFGTYIIQLYMPLNWFGTYYRMIQTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYA
  DGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQASLRSHIGVVPQDTVL
  FNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQVGERGLKLSGGEKQRVAIARTILKAPGIILL
  DEATSALDTSNERAIQASLAKVCANRTTIVVAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQ
  QGQEETSEDTKPQTMER

• Structural information:
  • Protein Domains: (265..55-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (590..82-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR032410  IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 3NH6 3NH9 3NHA 3NHB
  • PDBsum: 3NH6 3NH9 3NHA 3NHB
  • STRING: ENSP00000265316
• Other Databases: GeneCards:  ABCB6  Malacards:  ABCB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005740	mitochondrial envelope	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035351	heme transmembrane transport	IEA	biological process
GO:0035351	heme transmembrane transport	IEA	biological process
GO:0015886	heme transport	IDA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015562	efflux transmembrane transporter activity	IDA	molecular function
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0020037	heme binding	IDA	molecular function
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	NOT|cellular component
GO:0043190	ATP-binding cassette (ABC) transporter complex	NAS	cellular component
GO:0015886	heme transport	IMP	biological process
GO:0015439	ATPase-coupled heme transmembrane transporter activity	IMP	molecular function
GO:0006879	cellular iron ion homeostasis	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0015886	heme transport	IBA	biological process
GO:0015439	ATPase-coupled heme transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0005774	vacuolar membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0043588	skin development	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005740	mitochondrial envelope	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035351	heme transmembrane transport	IEA	biological process
GO:0035351	heme transmembrane transport	IEA	biological process
GO:0015886	heme transport	IDA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015562	efflux transmembrane transporter activity	IDA	molecular function
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0020037	heme binding	IDA	molecular function
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	NOT|cellular component
GO:0043190	ATP-binding cassette (ABC) transporter complex	NAS	cellular component
GO:0015886	heme transport	IMP	biological process
GO:0015439	ATPase-coupled heme transmembrane transporter activity	IMP	molecular function
GO:0006879	cellular iron ion homeostasis	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0015886	heme transport	IBA	biological process
GO:0015439	ATPase-coupled heme transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0005774	vacuolar membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0043588	skin development	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Hereditary stomatocytosis	KEGG:H00232
Familial pseudohyperkalemia	KEGG:H02001
Dyschromatosis universalis hereditaria	KEGG:H02350
Microphthalmia	KEGG:H01027
Hereditary stomatocytosis	KEGG:H00232
Familial pseudohyperkalemia	KEGG:H02001
Dyschromatosis universalis hereditaria	KEGG:H02350
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq