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PR00494

Identifier
FANCONICGENE  [View Relations]  [View Alignment]  
Accession
PR00494
No. of Motifs
9
Creation Date
26-JAN-1996  (UPDATE 07-JUN-1999)
Title
Fanconi anaemia group C protein signature
Database References

INTERPRO; IPR000686
Literature References
1. STRATHDEE, C.A., GAVISH, H., SHANNON, W.R. AND BUCHWALD, M.
Cloning of cDNAs for Fanconi's anaemia by functional complementation.
NATURE 356 763-767 (1992).
 
2. GIBSON, R.A., BUCHWALD, M., ROBERTS, R.G. AND MATHEW, C.G.
Characterisation of the exon structure of the Fanconi anaemia group
C gene by vectorette PCR.
HUM.MOL.GENET. 2(1) 35-38 (1993).
 
3. WALSH, C.E., NIENHUIS, A.W., SAMULSKI, R.J., BROWN, M.G., MILLER, J.L.,
YOUNG, N.S. AND LIU, J.M. 
Phenotypic correction of Fanconi anemia in human hematopoietic cells
with a recombinant adeno-associated virus vector.
J.CLIN.INVEST. 94 1440-1448 (1994).
 
4. YOUSSOUFIAN, H.
Localization of Fanconi anemia C protein to the cytoplasm of
mammalian cells.
PROC.NATL.ACAD.SCI.U.S.A. 91 7975-7979 (1994).

Documentation
Fanconi anaemia (FA) [1-3] is a recessive inherited disease characterised by
defective DNA repair. FA cells are sensitive to DNA cross-linking agents
that cause chromosomal instability and cell death. The disease is manifested
clinically by progressive pancytopenia, variable physical anomalies, and
predisposition to malignancy [3]. Four complementation groups have been
identified, designated A to D. The gene for group C (FACC) has been cloned.
Expression of the FACC cDNA corrects the phenotypic defect of FA(C) cells,
resulting in normalized cell growth in the presence of DNA cross-linking
agents such as mitomycin C (MMC) [3]. Gene transfer of the FACC gene should
provide a survival advantage to transduced hematopoietic cells, suggesting
that FA might be an ideal candidate for gene therapy [3].
 
The function of the FACC gene is not known. Immunofluorescence and sub-
cellular fractionation studies of human cell lines, and COS-7 cells 
transiently expressing human FACC, showed the protein to be located
primarily in the cytoplasm [4]. Yet, placement of a nuclear localisation
signal at the N-terminus of FACC directed the hybrid protein to the nuclei
of transfected COS-7 cells. Such findings suggest an indirect role for FACC
in regulating DNA repair in this group of Fanconi anaemia [4]. 
 
FANCONICGENE is a 9-element fingerprint that provides a signature for
Fanconi anaemia group C gene product. The fingerprint was derived from
an initial alignment of 3 sequences: the motifs were drawn from conserved
regions spanning the full alignment length. Two iterations on OWL26.3 were
required to reach convergence, at which point a true set comprising 4
sequences was identified.
 
An update on SPTR37_9f identified a true set of 4 sequences.
Summary Information
4 codes involving  9 elements
0 codes involving 8 elements
0 codes involving 7 elements
0 codes involving 6 elements
0 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
9444444444
8000000000
7000000000
6000000000
5000000000
4000000000
3000000000
2000000000
123456789
True Positives
FACC_HUMAN    FACC_MOUSE    O19104        O35870        
Sequence Titles
FACC_HUMAN  FANCONI ANEMIA GROUP C PROTEIN (FACC PROTEIN) - HOMO SAPIENS (HUMAN). 
FACC_MOUSE FANCONI ANEMIA GROUP C PROTEIN HOMOLOG (FACC PROTEIN) - MUS MUSCULUS (MOUSE).
O19104 FANCONI ANEMIA GROUP C PROTEIN - BOS TAURUS (BOVINE).
O35870 FANCONI ANEMIA GROUP C PROTEIN - RATTUS NORVEGICUS (RAT).
Scan History
OWL26_3    2  100  NSINGLE    
SPTR37_9f 2 6 NSINGLE
Initial Motifs
Motif 1  width=22
Element Seqn Id St Int Rpt
CLHVAQFQEFLRKMYEALKEMD S21733 35 35 -
CLHVAQFQEFLRKMYEALKEMD HUMFA14 35 35 -
CLHLSGFQEFLRQMYEILKEMD MUSFACC 35 35 -

Motif 2 width=18
Element Seqn Id St Int Rpt
ESQKILIWCLCCLINKEP S21733 85 28 -
ESQKILIWCLCCLINKEP HUMFA14 85 28 -
ESQKIVIWCLCCLMNKEP MUSFACC 85 28 -

Motif 3 width=23
Element Seqn Id St Int Rpt
IDYYPGLLKNMVLSLASELRENH S21733 143 40 -
IDYYPGLLKNMVLSLASELRENH HUMFA14 143 40 -
IDYYPSLLKNMVLSLVSELRESH MUSFACC 144 41 -

Motif 4 width=20
Element Seqn Id St Int Rpt
HGREPQEILQPEFFEAVNEA S21733 207 41 -
HGREPQEILQPEFFEAVNEA HUMFA14 207 41 -
HGHEPQEVLAPEFFEAVNEA MUSFACC 208 41 -

Motif 5 width=20
Element Seqn Id St Int Rpt
LWLRHLPSLEKAMLHLFEKL S21733 242 15 -
LWLRHLPSLEKAMLHLFEKL HUMFA14 242 15 -
LWFRHLPSLEKATLHLFEKL MUSFACC 243 15 -

Motif 6 width=20
Element Seqn Id St Int Rpt
FALKTYFPYTSPSLAMVLLQ S21733 335 73 -
FALKTYFPYTSPSLAMVLLQ HUMFA14 334 72 -
FALRTYFPYGAPCLAAALSQ MUSFACC 336 73 -

Motif 7 width=17
Element Seqn Id St Int Rpt
PFESWFLFIHFGGWAEM S21733 390 35 -
PFESWFLFIHFGGWAEM HUMFA14 389 35 -
PFESWFLFVHFGGWVDL MUSFACC 391 35 -

Motif 8 width=20
Element Seqn Id St Int Rpt
AEPPTALLWLLAFYYGPRDG S21733 416 9 -
AEPPTALLWLLAFYYGPRDG HUMFA14 415 9 -
AEPPAGLLWLLVFYYSPQDG MUSFACC 418 10 -

Motif 9 width=20
Element Seqn Id St Int Rpt
RHLLLNFLLWAPGGHTIAWD S21733 487 51 -
RHLLLNFLLWAPGGHTIAWD HUMFA14 487 52 -
RRLLLSLLLWTPEGHAIVWE MUSFACC 490 52 -
Final Motifs
Motif 1  width=22
Element Seqn Id St Int Rpt
CLHLSGFQEFLRQMYEILKEMD FACC_MOUSE 35 35 -
CLHLSRFQEFLRQMYELLKEMD O35870 35 35 -
CLHVAQFQEFLRKMYEALKEMD FACC_HUMAN 35 35 -
CLHLPQFQEFLRRMYETLKEMD O19104 35 35 -

Motif 2 width=18
Element Seqn Id St Int Rpt
ESQKIVIWCLCCLMNKEP FACC_MOUSE 85 28 -
ESQKIVIWCLCCLMNKAP O35870 85 28 -
ESQKILIWCLCCLINKEP FACC_HUMAN 85 28 -
ESPKILIWCLCCLIKKDP O19104 85 28 -

Motif 3 width=23
Element Seqn Id St Int Rpt
IDYYPSLLKNMVLSLVSELRESH FACC_MOUSE 144 41 -
IDYYPSLLKNMVLSLVSELRGSH O35870 144 41 -
IDYYPGLLKNMVLSLASELRENH FACC_HUMAN 143 40 -
TDYYPGLLKNMVLSLVSELRENH O19104 144 41 -

Motif 4 width=20
Element Seqn Id St Int Rpt
HGHEPQEVLAPEFFEAVNEA FACC_MOUSE 208 41 -
HGHEPQEVLSAEFFEAVTEA O35870 208 41 -
HGREPQEILQPEFFEAVNEA FACC_HUMAN 207 41 -
HGHEPQEVLCPEFFDAVNEA O19104 207 40 -

Motif 5 width=20
Element Seqn Id St Int Rpt
LWFRHLPSLEKATLHLFEKL FACC_MOUSE 243 15 -
LWFRHLPSLEKATLHLFEKL O35870 243 15 -
LWLRHLPSLEKAMLHLFEKL FACC_HUMAN 242 15 -
LWLRHLPSLENTMLHLLEKL O19104 242 15 -

Motif 6 width=20
Element Seqn Id St Int Rpt
FALRTYFPYGAPCLAAALSQ FACC_MOUSE 336 73 -
FALKTYFPYSAPCLTAALSQ O35870 336 73 -
FALKTYFPYTSPSLAMVLLQ FACC_HUMAN 335 73 -
FALKTYFPYASPALVMVLLQ O19104 336 74 -

Motif 7 width=17
Element Seqn Id St Int Rpt
PFESWFLFVHFGGWVDL FACC_MOUSE 391 35 -
PFESWFLFVHFGGWVDL O35870 391 35 -
PFESWFLFIHFGGWAEM FACC_HUMAN 390 35 -
PFESWFLFVHFGGWADI O19104 389 33 -

Motif 8 width=20
Element Seqn Id St Int Rpt
AEPPAGLLWLLVFYYSPQDG FACC_MOUSE 418 10 -
AEPPAGLLWLLVFYYSPQDR O35870 418 10 -
AEPPTALLWLLAFYYGPRDG FACC_HUMAN 416 9 -
AEPPEALLWLLAFSCSPGAG O19104 417 11 -

Motif 9 width=20
Element Seqn Id St Int Rpt
RRLLLSLLLWTPEGHAIVWE FACC_MOUSE 490 52 -
RRLLLSLLFWTPEGHAIVWE O35870 489 51 -
RHLLLNFLLWAPGGHTIAWD FACC_HUMAN 488 52 -
RRLLLHFLLWAPGGHTIARE O19104 490 53 -