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PR00493

Identifier
BRSTCANCERI  [View Relations]  [View Alignment]  
Accession
PR00493
No. of Motifs
8
Creation Date
29-MAR-1996  (UPDATE 14-JUN-1999)
Title
Breast cancer type I susceptibility protein signature
Database References

PFAM; PF00533 BRCT
INTERPRO; IPR002378
Literature References
1. MIKI, Y., SWENSEN, J., SHATTUCK-EIDENS, D., FUTREAL, P.A., HARSHMAN, K.,
TAVTIGIAN, S., LIU, Q., COCHRAN, C., BENNETT, L.M., DING, W., BELL, R.,
ROSENTHAL, J., HUSSEY, C., TRAN, T., MCCLURE, M., FRYE, C., HATTIER, T.,
PHELPS, R., HAUGEN-STRANO, A., KATCHER, H., YAKUMO, K., GHOLAMI, Z.,
SHAFFER, D., STONE, S., BAYER, S., WRAY, C., BOGDEN, R., DAYANANTH, P.,
WARD, J., TONIN, P., NAROD, S., BRISTOW, P.K., NORRIS, F.H., HELVERING, L.,
MORRISON, P., ROSTECK, P., LAI, M., BARRETT, J.C., LEWIS, C., NEUHAUSEN, S.,
CANNON-ALBRIGHT, L., GODLGAR, D., WISEMAN, R., KAMB, A. AND SKOLNICK, M.H.
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
SCIENCE 266 66-71 (1994).

Documentation
Breast cancer is a common malignancy, affecting 1 in 8 women. A major
contributary factor in disease development lies in a positive family
history, a correlation that is striking for early-onset breast cancer.
Mutations in BRCA1 are believed to be responsible for 45% of inherited
breast cancer and more than 80% of inherited breast and ovarian cancer.
 
The BRCA1 gene is expressed in numerous tissues, including breast and
ovary, and encodes a predicted protein of 1863 amino acids [1]. The protein
contains an N-terminal zinc-finger domain, but otherwise appears unrelated
to currently known protein families. It is hoped that BRCA1 will both
facilitate early diagnosis of breast and ovarian cancer susceptibility, and  
provide a better understanding of breast cancer biology [1].
 
BRSTCANCERI is an 8-element fingerprint that provides a signature for
breast cancer type I susceptibility proteins. The fingerprint was derived
from an initial alignment of 6 sequences: the motifs were drawn from
conserved regions spanning virtually the full alignment length, focusing
on domains in which mutations have been linked to disease development. A
single iteration on OWL27.0 was required to reach convergence, no further
sequences being identified beyond the starting set. A single partial match
was also found, MMU33835, a fragment that matches motifs 3 and 4.
 
An update on SPTR37_9f identified a true set of 5 sequences, and 1
partial match.
Summary Information
   5 codes involving  8 elements
0 codes involving 7 elements
0 codes involving 6 elements
1 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
855555555
700000000
600000000
510001111
400000000
300000000
200000000
12345678
True Positives
BRC1_CANFA    BRC1_HUMAN    BRC1_MOUSE    O15129        
O54952
True Positive Partials
Codes involving 5 elements
Q92897
Sequence Titles
BRC1_CANFA  BREAST CANCER TYPE 1 SUSCEPTIBILITY PROTEIN HOMOLOG - CANIS FAMILIARIS (DOG). 
BRC1_HUMAN BREAST CANCER TYPE 1 SUSCEPTIBILITY PROTEIN - HOMO SAPIENS (HUMAN).
BRC1_MOUSE BREAST CANCER TYPE 1 SUSCEPTIBILITY PROTEIN HOMOLOG - MUS MUSCULUS (MOUSE).
O15129 BREAST AND OVARIAN CANCER SUSCEPTIBILITY PROTEIN SPLICE VARIANT - HOMO SAPIENS (HUMAN).
O54952 BRCA1 - RATTUS NORVEGICUS (RAT).

Q92897 BRCA1-DELTA11B (BREAST AND OVARIAN CANCER SUSCEPTIBILITY PROTEIN) - HOMO SAPIENS (HUMAN).
Scan History
OWL27_0    1  50   NSINGLE    
SPTR37_9f 2 50 NSINGLE
Initial Motifs
Motif 1  width=17
Element Seqn Id St Int Rpt
KKGPSQCPLCKNEITKR MMU31625 55 55 -
KKGPSQCPLCKNDITKR BRC1_HUMAN 55 55 -
KKGPSQCPLCKNEITKR MMU32446 55 55 -
KKGPSQCPLCKNEITKR MMU35641 55 55 -
KKGPSQCPLCKNEITKR MMU36475 55 55 -
KKGPSQCPLCKNDITKR A54652 55 55 -

Motif 2 width=21
Element Seqn Id St Int Rpt
TDRSEESTSVSLVPDTDYDTQ MMU32446 752 680 -
TDRSEESTSVSLVSDTDYDTQ MMU35641 752 680 -
TDRSEESTSVSLVPDTDYDTQ MMU36475 752 680 -
TERSVESSSISLVPGTDYGTQ A54652 760 688 -
TERSVESSSISLVPGTDYGTQ BRC1_HUMAN 760 688 -
TDRSEESTSVSLVSDTDYDTQ MMU31625 752 680 -

Motif 3 width=18
Element Seqn Id St Int Rpt
NNRGNACQEAGSGSIHEV MMU35641 1013 240 -
NNRGNACQEAGSGSIHEV MMU36475 1013 240 -
NIRENVFKEASSSNINEV A54652 1030 249 -
NIRENVFKEASSSNINEV BRC1_HUMAN 1030 249 -
NNRGNACQEAGSGSIHEV MMU31625 1013 240 -
NNRGNACQEAGSGSIHEV MMU32446 1013 240 -

Motif 4 width=21
Element Seqn Id St Int Rpt
SILRRESSRSPSPVTHASKSQ MMU36475 1143 112 -
SVQKGELSRSPSPFTHTHLAQ BRC1_HUMAN 1180 132 -
SVQKGELSRSPSPFTHTHLAQ A54652 1180 132 -
SILRRESSRSPSPVTHASKSQ MMU31625 1143 112 -
SILRRESSRSPSPVTHASKSQ MMU32446 1143 112 -
SILRRESSRSPSPVTHASKSQ MMU35641 1143 112 -

Motif 5 width=17
Element Seqn Id St Int Rpt
PSIISDSSALEDLRNPE A54652 1430 229 -
PSLLADPCALEDLPDLE MMU31625 1386 222 -
PSLLADPCALEDLPDLE MMU32446 1386 222 -
PSLLGDPCALEDLPVLE MMU35641 1386 222 -
PSLLADPCALEDLPDLE MMU36475 1386 222 -
PSIISDSSALEDLRNPE BRC1_HUMAN 1430 229 -

Motif 6 width=21
Element Seqn Id St Int Rpt
VSREKPELTASTERVNKRMSM BRC1_HUMAN 1632 185 -
VSKIKPELTSSEERADRDISM MMU31625 1575 172 -
VSKIKPELTSSEERADRDISM MMU32446 1575 172 -
VSKIKPELTSSEERADRDISM MMU35641 1575 172 -
VSKIKPELTSSEERADRDISM MMU36475 1575 172 -
VSREKPELTASTERVNKRMSM A54652 1632 185 -

Motif 7 width=21
Element Seqn Id St Int Rpt
RTLKYFLGIAGGKWIVSYSWV MMU31625 1642 46 -
RTLKYFLGIAGGKWIVSYSWV MMU32446 1642 46 -
RTLKYFLGIAGGKWIVSYSWV MMU35641 1642 46 -
RTLKYFLGIAGGKWIVSYSWV MMU36475 1642 46 -
RTLKYFLGIAGGKWVVSYFWV A54652 1699 46 -
RTLKYFLGIAGGKWVVSYFWV BRC1_HUMAN 1699 46 -

Motif 8 width=24
Element Seqn Id St Int Rpt
PFTNMPKDELERMLQLCGASVVKE MMU36475 1713 50 -
PFTNMPKDDLERMLQLCGASVVKE MMU35641 1713 50 -
PFTNMPTDQLEWMVQLCGASVVKE BRC1_HUMAN 1771 51 -
PFTNMPKDELERMLQLCGASVVKE MMU32446 1713 50 -
PFTNMPKDELERMLQLCGASVVKE MMU31625 1713 50 -
PFTNMPTDQLEWMVQLCGASVVKE A54652 1771 51 -
Final Motifs
Motif 1  width=17
Element Seqn Id St Int Rpt
KKGPSQCPLCKNDITKR BRC1_HUMAN 55 55 -
RKGPSQCPLCKNDITKR BRC1_CANFA 55 55 -
KKGPSQCPLCKNEITKR BRC1_MOUSE 55 55 -
SLETSLSVQLSNLGTVR O15129 76 76 -
KKGPSQCPLCKNEITKR O54952 55 55 -

Motif 2 width=21
Element Seqn Id St Int Rpt
TERSVESSSISLVPGTDYGTQ BRC1_HUMAN 760 688 -
TERSVESTSISLVLDTDYGTQ BRC1_CANFA 758 686 -
TDRSEESTSVSLVSDTDYDTQ BRC1_MOUSE 752 680 -
TERSVESSSISLVPGTDYGTQ O15129 689 596 -
TEPSEESTSVSLVPDTDYDTQ O54952 752 680 -

Motif 3 width=18
Element Seqn Id St Int Rpt
NIRENVFKEASSSNINEV BRC1_HUMAN 1030 249 -
NIRECASKEVGSSSVNEV BRC1_CANFA 1030 251 -
NNRGNACQEAGSGSIHEV BRC1_MOUSE 1013 240 -
NIRENVFKEASSSNINEV O15129 959 249 -
NNRGDACLEASSGSVIEV O54952 1014 241 -

Motif 4 width=21
Element Seqn Id St Int Rpt
SVQKGELSRSPSPFTHTHLAQ BRC1_HUMAN 1180 132 -
SVQSGEFSRSPSPSDHTRLAQ BRC1_CANFA 1181 133 -
SILRRESSRSPSPVTHASKSQ BRC1_MOUSE 1143 112 -
SVQKGELSRSPSPFTHTHLAQ O15129 1109 132 -
SVLRRESSRSPSPVTHASKSR O54952 1144 112 -

Motif 5 width=17
Element Seqn Id St Int Rpt
PSIISDSSALEDLRNPE BRC1_HUMAN 1430 229 -
PSLIADSCSPEDLLNPE BRC1_CANFA 1434 232 -
PSLLGDPCALEDLPVLE BRC1_MOUSE 1386 222 -
PSIISDSSALEDLRNPE O15129 1359 229 -
PCLPADPCALEDLPDPE O54952 1387 222 -

Motif 6 width=21
Element Seqn Id St Int Rpt
VSREKPELTASTERVNKRMSM BRC1_HUMAN 1632 185 -
VGIEKPEVISSTRGVNKRISM BRC1_CANFA 1635 184 -
VSKIKPELTSSEERADRDISM BRC1_MOUSE 1575 172 -
VSREKPELTASTERVNKRMSM O15129 1561 185 -
VSKIKPEVTSPKERAERDISM O54952 1578 174 -

Motif 7 width=21
Element Seqn Id St Int Rpt
RTLKYFLGIAGGKWVVSYFWV BRC1_HUMAN 1699 46 -
RTLKYFLGIAGGKWVVSYFWV BRC1_CANFA 1702 46 -
RTLKYFLGIAGGKWIVSYSWV BRC1_MOUSE 1642 46 -
RTLKYFLGIAGGKWVVSYFWV O15129 1628 46 -
RTLKYFLGIAGGKWIVSYSWV O54952 1645 46 -

Motif 8 width=24
Element Seqn Id St Int Rpt
PFTNMPTDQLEWMVQLCGASVVKE BRC1_HUMAN 1771 51 -
PFTNMPTDQLEWMVHLCGASVVKE BRC1_CANFA 1779 56 -
PFTNMPKDDLERMLQLCGASVVKE BRC1_MOUSE 1713 50 -
PFTNMPTDQLEWMVQLCGASVVKE O15129 1700 51 -
PFTNMPKDELERMLQLCGASVVKE O54952 1716 50 -