chromosomal translocation t(5;17)(q33;p11.2) (juvenile myelomonocytic leukemia)

chromosomal translocation t(5;17)(q33;p11.2) involving SPECC1 with PDGFRB may be a cause of juvenile myelomonocytic leukemia

Properties

GENERAL: chromosomal translocation RELATED: AML-M4; acute myelomonocytic leukemia FORM: t(5;17)(q33;p11.2) LOCUS: human chromosome-5 Q33 human chromosome-17 P11.2 PATHOLOGY: AML-M4; acute myelomonocytic leukemia ABERRANT-GENE: sperm antigen with calponin homology & coiled-coil domains 1 COMPARTMENT: cell nucleus MOTIF: serine-rich region {260-372} MOTIF: serine residue (SEVERAL) coiled coil {579-773} calponin homology domain NAME: calponin homology domain SITE: 962-1064 PDGF receptor-beta CONFIGURATION: dimer COMPARTMENT: plasma membrane STATE: active state MOTIF: ligand-binding site glycosylation site immunoglobulin superfamily domain (4) transmembrane domain Tyr phosphorylation site MOTIF-SEQUENCE: YIYV kinase domain SITE: KD1 MOTIF: ATP-binding site NAME: ATP-binding site Tyr phosphorylation site {Y740} MOTIF-SEQUENCE: YMDM Tyr phosphorylation site {Y751} MOTIF-SEQUENCE: YVPM Tyr phosphorylation site {Y857} MOTIF-SEQUENCE: YMAP kinase domain SITE: KD2 MOTIF: ATP-binding site NAME: ATP-binding site Tyr phosphorylation site MOTIF-SEQUENCE: YTAVQP Tyr phosphorylation site {Y1021} MOTIF-SEQUENCE: YIIPLP

References

UniProt :accession Q9BS16