Protein-coding gene in the species Homo sapiens
ABCB6 |
---|
![](//upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Protein_ABCB6_PDB_3NH6.png/250px-Protein_ABCB6_PDB_3NH6.png) |
Available structures |
---|
PDB | Ortholog search: PDBe RCSB |
---|
List of PDB id codes |
---|
3NH6, 3NH9, 3NHA, 3NHB |
|
|
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; HomoloGene: 11375; GeneCards: ABCB6; OMA:ABCB6 - orthologs |
---|
Gene location (Human) |
---|
![Chromosome 2 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Ideogram_human_chromosome_2.svg/300px-Ideogram_human_chromosome_2.svg.png) | Chr. | Chromosome 2 (human)[1] |
---|
| Band | 2q35 | Start | 219,209,772 bp[1] |
---|
End | 219,218,994 bp[1] |
---|
|
Gene location (Mouse) |
---|
![Chromosome 1 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Ideogram_house_mouse_chromosome_1.svg/260px-Ideogram_house_mouse_chromosome_1.svg.png) | Chr. | Chromosome 1 (mouse)[2] |
---|
| Band | 1|1 C4 | Start | 75,148,361 bp[2] |
---|
End | 75,157,036 bp[2] |
---|
|
RNA expression pattern |
---|
Bgee | Human | Mouse (ortholog) |
---|
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 |
|
---|
BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/c/c4/PBB_GE_ABCB6_203192_at_fs.png/250px-PBB_GE_ABCB6_203192_at_fs.png) | 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 |
---|
Species | Human | Mouse |
---|
Entrez | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (mRNA) | | |
---|
RefSeq (protein) | | |
---|
Location (UCSC) | Chr 2: 219.21 – 219.22 Mb | Chr 1: 75.15 – 75.16 Mb |
---|
PubMed search | [3] | [4] |
---|
|
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.[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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000115657 – Ensembl, May 2017
- ^ a b c 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.
- ^ 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.
- ^ 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.
A | |
---|
B | |
---|
C | |
---|
D | |
---|
E | |
---|
F | |
---|
G | |
---|
see also ABC transporter disorders |
![Stub icon](//upload.wikimedia.org/wikipedia/commons/thumb/0/08/Beta-2_adrenergic_receptor.png/30px-Beta-2_adrenergic_receptor.png) | This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |