ABCB6

ABCB6
Identifiers
Aliases	ABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group)
External IDs	OMIM: 605452; MGI: 1921354; GeneCards: ABCB6
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3NH6, 3NH9, 3NHA, 3NHB
Enzyme activity
Gene location (Human)
Chr.	Chromosome 2 (human)
End	219,218,994 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,157,036 bp
RNA expression pattern
	Top expressed in
	right ovary; ; right hemisphere of cerebellum; ; left ovary; ; right lobe of thyroid gland; ; nucleus accumbens; ; hypothalamus; ; left testis; ; right frontal lobe; ; left lobe of thyroid gland; ; caudate nucleus;
	Top expressed in
	bone marrow; ; spermatocyte; ; proximal tubule; ; liver; ; spermatid; ; white adipose tissue; ; right kidney; ; human kidney; ; muscle of thigh; ; morula;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	10058
	74104
	ENSG00000115657
	ENSMUSG00000026198
	Q9NP58
	Q9DC29
	NM_005689; NM_001349828
	NM_023732
	NP_005680; NP_001336757
	NP_076221
	Wikidata
View/Edit Human	View/Edit Mouse

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

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. The protein also carries the Lan antigen, which defines the Lan blood group system.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000115657 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026198 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 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.
↑ Bocchini CA (2015). "#111600 - BLOOD GROUP, LANGEREIS SYSTEM; LAN". Online Mendelian Inheritance in Man. Retrieved 16 May 2020.

External links

ABCB6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
ABCB6 human gene location in the UCSC Genome Browser.
ABCB6 human gene details in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: Q9NP58 (ATP-binding cassette sub-family B member 6, mitochondrial) at the PDBe-KB.

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

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000115657 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid8894702-5] 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.

[pmid9110174-6] 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.

[pmid23519333-7] 1 2 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.

[omim2015-8] Bocchini CA (2015). "#111600 - BLOOD GROUP, LANGEREIS SYSTEM; LAN". Online Mendelian Inheritance in Man. Retrieved 16 May 2020.

v t e Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
see also ABC transporter disorders

ABCB6

See also

References

Further reading

External links