Sequence information
Variant position: 970 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1257 The length of the canonical sequence.
Location on the sequence:
TPEGMFIVFTAIAYGAMAIG
E TLVLAPEYSKAKSGAAHLFA
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 TPEGMFIVFTAIAYGAMAIGE TLVLA------PEYSKAKSGAAHLFA
Mouse MPEGMFIVFTAIAYGAMAIGE TLVWA------PEYSKAKAG
Slime mold VVQGNLSVGDLVLVNGLLFQI SLPLNFLGTVYREIKQSLVD
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 – 1257
ATP-binding cassette sub-family B member 5
Transmembrane
954 – 974
Helical
Domain
693 – 980
ABC transmembrane type-1 2
Alternative sequence
572 – 1257
Missing. In isoform 3.
Alternative sequence
577 – 1257
Missing. In isoform 2.
Literature citations
Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter.
Frank N.Y.; Pendse S.S.; Lapchak P.H.; Margaryan A.; Shlain D.; Doeing C.; Sayegh M.H.; Frank M.H.;
J. Biol. Chem. 278:47156-47165(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT LYS-970;
Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes.
Chen K.G.; Szakacs G.; Annereau J.-P.; Rouzaud F.; Liang X.-J.; Valencia J.C.; Nagineni C.N.; Hooks J.J.; Hearing V.J.; Gottesman M.M.;
Pigment Cell Res. 18:102-112(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANTS GLU-560 AND LYS-970; TISSUE SPECIFICITY;
Expression of human ABCB5 confers resistance to taxanes and anthracyclines.
Kawanobe T.; Kogure S.; Nakamura S.; Sato M.; Katayama K.; Mitsuhashi J.; Noguchi K.; Sugimoto Y.;
Biochem. Biophys. Res. Commun. 418:736-741(2012)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); FUNCTION; VARIANT LYS-970; CATALYTIC ACTIVITY;
Submission
Meij I.C.; van Aubel R.; Tammur J.; Dean M.; Russel F.G.; Allikmets R.; Cremers F.P.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANT LYS-970;
Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LYS-970;
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.