ABCB6

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

ABCB6
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) Chr. Chromosome 2 (human)[1] Band 2q35 Start 219,209,772 bp[1] End 219,218,994 bp[1]
Gene location (Mouse) 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 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 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 Mb Chr 1: 75.15 – 75.16 Mb PubMed search [3] [4]
Wikidata
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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

• ATP-binding cassette transporter