ABCB6

Protein-coding gene in the species Homo sapiens
ABCB6
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3NH6, 3NH9, 3NHA, 3NHB

Identifiers
AliasesABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group)
External IDsOMIM: 605452 MGI: 1921354 HomoloGene: 11375 GeneCards: ABCB6
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ABCB6
Genomic location for ABCB6
Band2q35Start219,209,772 bp[1]
End219,218,994 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for ABCB6
Genomic location for ABCB6
Band1|1 C4Start75,148,361 bp[2]
End75,157,036 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of thyroid gland

  • nucleus accumbens

  • hypothalamus

  • left lobe of thyroid gland

  • caudate nucleus

  • Brodmann area 9

  • putamen

  • anterior pituitary

  • gastrocnemius muscle

  • hippocampus proper
Top expressed in
  • bone marrow

  • spermatocyte

  • proximal tubule

  • liver

  • spermatid

  • white adipose tissue

  • kidney

  • morula

  • quadriceps femoris muscle

  • duodenum
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • ATPase-coupled transmembrane transporter activity
  • nucleotide binding
  • heme transmembrane transporter activity
  • ABC-type heme transporter activity
  • ATPase activity
  • heme binding
  • efflux transmembrane transporter activity
  • ATP binding
Cellular component
  • integral component of membrane
  • endosome
  • Golgi apparatus
  • endoplasmic reticulum membrane
  • membrane
  • ATP-binding cassette (ABC) transporter complex
  • Golgi membrane
  • plasma membrane
  • integral component of mitochondrial outer membrane
  • mitochondrial outer membrane
  • endoplasmic reticulum
  • mitochondrion
  • mitochondrial envelope
  • endosome membrane
  • extracellular exosome
  • nucleoplasm
  • cytosol
  • vacuolar membrane
Biological process
  • porphyrin-containing compound biosynthetic process
  • heme transport
  • brain development
  • transmembrane transport
  • skin development
  • cellular iron ion homeostasis
  • transport
  • heme transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10058

74104

Ensembl

ENSG00000115657

ENSMUSG00000026198

UniProt

Q9NP58

Q9DC29

RefSeq (mRNA)

NM_005689
NM_001349828

NM_023732

RefSeq (protein)

NP_005680
NP_001336757

NP_076221

Location (UCSC)Chr 2: 219.21 – 219.22 MbChr 1: 75.15 – 75.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[5][6][7]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism.[7] The protein also carries the Lan antigen, which defines the Lan blood group system.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115657 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026198 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Allikmets R, Gerrard B, Hutchinson A, Dean M (Feb 1997). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database". Hum Mol Genet. 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702.
  6. ^ Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Jun 1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  7. ^ a b Zhang C, Li D, Zhang J, Chen X (Mar 2013). "Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria". J Invest Dermatol. 133 (9): 2221–8. doi:10.1038/jid.2013.145. PMID 23519333.
  8. ^ Bocchini CA (2015). "#111600 - BLOOD GROUP, LANGEREIS SYSTEM; LAN". Online Mendelian Inheritance in Man. Retrieved 16 May 2020.

Further reading

  • Paterson JK, Shukla S, Black CM, et al. (2007). "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane". Biochemistry. 46 (33): 9443–52. doi:10.1021/bi700015m. PMID 17661442.
  • Krishnamurthy PC, Du G, Fukuda Y, et al. (2006). "Identification of a mammalian mitochondrial porphyrin transporter". Nature. 443 (7111): 586–9. Bibcode:2006Natur.443..586K. doi:10.1038/nature05125. PMID 17006453. S2CID 4300410.
  • Kurashima-Ito K, Ikeya T, Senbongi H, et al. (2006). "Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6". J. Biomol. NMR. 35 (1): 53–71. doi:10.1007/s10858-006-9000-6. PMID 16791740. S2CID 42668666.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Visapää I, Fellman V, Lanyi L, Peltonen L (2002). "ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis". Am. J. Med. Genet. 109 (3): 202–5. doi:10.1002/ajmg.10331. PMID 11977179.
  • Emadi-Konjin HP, Zhang H, Anandan V, et al. (2002). "Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6". Biochim. Biophys. Acta. 1574 (2): 117–30. doi:10.1016/s0167-4781(01)00340-2. PMID 11955620.
  • Mitsuhashi N, Miki T, Senbongi H, et al. (2000). "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis". J. Biol. Chem. 275 (23): 17536–40. doi:10.1074/jbc.275.23.17536. PMID 10837493.
  • Furuya KN, Bradley G, Sun D, et al. (1997). "Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis". Cancer Res. 57 (17): 3708–16. PMID 9288777.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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