Sequence information
Variant position: 590 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 655 The length of the canonical sequence.
Location on the sequence:
YFSIPRYGFTALQHNEFLGQ
N FCPGLNATGNNPCNYATCTG
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 YFSIPRYGFTALQHNEFLGQN FC------------PGLNATGNNPC--NYATCT---G
Rhesus macaque YFSIPRYGFTALQHNEFLGQN FC------------PGLNAT
Mouse YFSIPRYGFTALQYNEFLGQE FC------------PGFNVT
Rat YFSIPRYGFTALQHNEFLGQE FC------------PGLNVT
Pig YFSIPRYGFSALQYNEFLGQN FC------------PGLNVT
Bovine YLSIPRYGYAALQHNEFLGQN FC------------PGLNVT
Slime mold WISPIKYAFEGLMSNEHHGLI YSCDDSETIPPRNTPNFELP
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 – 655
Broad substrate specificity ATP-binding cassette transporter ABCG2
Topological domain
557 – 630
Extracellular
Domain
389 – 651
ABC transmembrane type-2
Glycosylation
596 – 596
N-linked (GlcNAc...) asparagine
Disulfide bond
603 – 603
Interchain
Alternative sequence
550 – 611
IFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGNNPCNYATCTGE -> VCWSISQPLHLGCHGFSTSAFHDMDLRLCSIMNFWDKTSAQDSMQQETILVTMQHVLAKNIW. In isoform 2.
Mutagenesis
583 – 583
H -> A. Strongly reduced binding to hemin but not to PPIX.
Mutagenesis
596 – 596
N -> Q. Loss of glycosylation.
Mutagenesis
603 – 603
C -> A. Strongly reduced binding to hemin but not to PPIX.
Mutagenesis
605 – 605
Y -> A. No effect on hemin binding.
Literature citations
Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine.
Zamber C.P.; Lamba J.K.; Yasuda K.; Farnum J.; Thummel K.; Schuetz J.D.; Schuetz E.G.;
Pharmacogenetics 13:19-28(2003)
Cited for: VARIANTS MET-12; LYS-141; LEU-206 AND TYR-590;
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.