Sequence information
Variant position: 919 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1249 The length of the canonical sequence.
Location on the sequence:
RTNIQDNESTLEVTSLKYST
S PYLLEAASHLSPENFVEDEA
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 RTNIQDNESTLEVTSLKYSTS PYLLEAASHLSPENFVEDEA
Mouse EKCTKDNEPTLEVACLEDSTF TSVSESS-HQSPENSTE-EA
Chicken ----CSNEVFHVPLNSKEPSS ASQQEATIHLSPDVPVKSEE
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 – 1249
Fanconi anemia group J protein
Region
888 – 1063
Interaction with BRCA1
Modified residue
927 – 927
Phosphoserine
Modified residue
930 – 930
Phosphoserine
Literature citations
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
Cantor S.B.; Bell D.W.; Ganesan S.; Kass E.M.; Drapkin R.; Grossman S.; Wahrer D.C.R.; Sgroi D.C.; Lane W.S.; Haber D.A.; Livingston D.M.;
Cell 105:149-160(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 708-747; 765-790; 815-831; 1079-1085; 1169-1174 AND 1215-1225; FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH BRCA1; MUTAGENESIS OF LYS-52; VARIANTS BC ALA-47 AND ILE-299; VARIANTS ILE-193 AND PRO-919; IDENTIFICATION BY MASS SPECTROMETRY;
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] (ISOFORM 1); VARIANT PRO-919;
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
Litman R.; Peng M.; Jin Z.; Zhang F.; Zhang J.; Powell S.; Andreassen P.R.; Cantor S.B.;
Cancer Cell 8:255-265(2005)
Cited for: FUNCTION; VARIANT PRO-919; DISEASE;
No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22.
Luo L.; Lei H.; Du Q.; von Wachenfeldt A.; Kockum I.; Luthman H.; Vorechovsky I.; Lindblom A.;
Int. J. Cancer 98:638-639(2002)
Cited for: VARIANTS CYS-173 AND PRO-919;
No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.
Karppinen S.-M.; Vuosku J.; Heikkinen K.; Allinen M.; Winqvist R.;
Eur. J. Cancer 39:366-371(2003)
Cited for: VARIANTS PRO-919 AND LEU-1034;
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
Rutter J.L.; Smith A.M.; Davila M.R.; Sigurdson A.J.; Giusti R.M.; Pineda M.A.; Doody M.M.; Tucker M.A.; Greene M.H.; Zhang J.; Struewing J.P.;
Hum. Mutat. 22:121-128(2003)
Cited for: VARIANTS CYS-173; ILE-193; PRO-195; TRP-419; VAL-531; LEU-540; TYR-832; PRO-919 AND GLY-935;
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-919;
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.