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chromosomal translocation t8p11:13q12 (stem cell leukemia lymphoma syndrome)
- chromosomal translocation t(8;13)(p11;q12) involving ZMYM2 with FGFR1 may be a cause of stem cell leukemia lymphoma syndrome
Properties
GENERAL: chromosomal translocation
FORM: t8p11:13q12
LOCUS: human chromosome-8 P11
human chromosome-13 Q12
PATHOLOGY: stem cell leukemia lymphoma syndrome
ABERRANT-GENE: zinc finger MYM-type protein 2
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S305}
Zinc finger
NAME: Zinc finger
SITE: 352-386
EFFECTOR-BOUND: Zn+2
MOTIF: Ser phosphorylation site {S362}
Zinc finger
NAME: Zinc finger
SITE: 398-436
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 445-480
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 491-549
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 559-597
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 605-652
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 660-694
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 701-740
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 747-781
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S838}
breakpoint {913-914}
FGF receptor-1
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-21}
immunoglobulin superfamily domain {25-119}
MOTIF: cysteine residue {C55}
MODIFICATION: cysteine residue {C101}
N-glycosylation site {N77}
cysteine residue {C101}
MODIFICATION: cysteine residue {C55}
N-glycosylation site {N117}
immunoglobulin superfamily domain {158-246}
MOTIF: binding site
SITE: 160-177
FOR-BINDING-OF: heparin
cysteine residue {C178}
MODIFICATION: cysteine residue {C230}
N-glycosylation site {N227}
cysteine residue {C230}
MODIFICATION: cysteine residue {C178}
N-glycosylation site {N240}
immunoglobulin superfamily domain {255-357}
MOTIF: N-glycosylation site {N264}
cysteine residue {C277}
MODIFICATION: cysteine residue {C341}
N-glycosylation site {N296}
N-glycosylation site {N317}
N-glycosylation site {N330}
cysteine residue {C341}
MODIFICATION: cysteine residue {C277}
transmembrane domain {377-397}
breakpoint {428-429}
kinase domain
SITE: 478-767
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 484-492
ATP-binding site
NAME: ATP-binding site
SITE: 514-514
aspartate residue {D623}
Tyr phosphorylation site {Y653}
Tyr phosphorylation site {Y654}
tyrosine residue {766}
Tyr phosphorylation site {Y766}
References
UniProt :accession Q9UBW7