Sequence information
Variant position: 848 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1503 The length of the canonical sequence.
Location on the sequence:
NGAIAEMGSYQELLQRKGAL
M CLLDQARQPGDRGEGETEPG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NGAIAEMGSYQELLQRKGALM CLLDQARQPGDRGEGETEPG
Mouse NGTIAEMGSYQDLLQRNGALV GLLDGARQPAG-----THDA
Rat NGTIAEMGSYQDLLHRNGALV GLLDGARQPAGEGEGEAHAA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1503
Multidrug resistance-associated protein 6
Topological domain
597 – 939
Cytoplasmic
Domain
629 – 853
ABC transporter 1
Alternative sequence
100 – 1503
Missing. In isoform 2.
Alternative sequence
806 – 871
TRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTST -> KQNLGPAPRTPEAPLQAGGPSLDARGPSSQSLRRTVPLQKPRQRFLWMTLTGQDGQQERTASNTAG. In isoform 3.
Helix
846 – 852
Literature citations
MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.
Belinsky M.G.; Kruh G.D.;
Br. J. Cancer 80:1342-1349(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-848;
Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.
Kool M.; van der Linden M.; de Haas M.; Baas F.; Borst P.;
Cancer Res. 59:175-182(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS TRP-64 AND VAL-848;
Identification of a new splice variant of the human ABCC6 transporter.
Armentano M.F.; Ostuni A.; Infantino V.; Iacobazzi V.; Castiglione Morelli M.A.; Bisaccia F.;
Biochem. Res. Int. 2008:912478-912478(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); VARIANTS VAL-319 AND VAL-848; ALTERNATIVE SPLICING;
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Loftus B.J.; Kim U.-J.; Sneddon V.P.; Kalush F.; Brandon R.; Fuhrmann J.; Mason T.; Crosby M.L.; Barnstead M.; Cronin L.; Mays A.D.; Cao Y.; Xu R.X.; Kang H.-L.; Mitchell S.; Eichler E.E.; Harris P.C.; Venter J.C.; Adams M.D.;
Genomics 60:295-308(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS TRP-64 AND VAL-848;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS ALA-614; GLN-632 AND VAL-848;
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
Ramsay M.; Greenberg T.; Lombard Z.; Labrum R.; Lubbe S.; Aron S.; Marais A.S.; Terry S.; Bercovitch L.; Viljoen D.;
J. Dermatol. Sci. 54:198-204(2009)
Cited for: VARIANTS PXE GLN-518; PRO-726; GLN-1138; ARG-1302; PRO-1335 AND CYS-1339; VARIANTS THR-78; GLY-265; MET-417; ALA-614; GLN-632; LEU-724; VAL-742; VAL-848 AND ILE-946;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.