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chromosomal translocation t(9;11)(q34;q23) (acute myeloid leukemia, DAB2IP with MLL)
- chromosomal translocation t(9;11)(q34;q23) involving DAB2IP with MLL is found in a patient with acute myeloid leukemia
- gives rise to a MLL-DAB2IP fusion protein lacking the PH domain (putative)
Properties
GENERAL: t(9;11)(q34;q23)
RELATED: histone-lysine N-methyltransferase 2A
disabled homolog 2-interacting protein
FORM: t(9;11)(q34;q23) DAB2IP with MLL
LOCUS: human chromosome-9 Q34
human chromosome-11 Q23
PATHOLOGY: acute myeloid leukemia (AML)
ABERRANT-GENE: disabled homolog 2-interacting protein
COMPARTMENT: cytoplasm
MOTIF: arginine-rich region {8-52}
MOTIF: arginine residue (SEVERAL)
PH domain {101-202}
MOTIF: alanine-rich region {112-117}
MOTIF: alanine residue (SEVERAL)
Breakpoint for translocation to form MLL- DAB2IP {172-173}
C2 domain {200-295}
MOTIF: binding site
FOR-BINDING-OF: phospholipid
Ca+2-binding site
ras-GAP domain
NAME: ras-GAP domain
SITE: 371-563
Ser phosphorylation site {S702}
alanine-rich region {867-870}
MOTIF: alanine residue (SEVERAL)
proline-rich region
SITE: 903-948
MOTIF: proline residue (SEVERAL)
coiled coil {1026-1159}
histone-lysine N-methyltransferase 2A
COMPARTMENT: cell nucleus
MOTIF: serine-rich region {17-102}
MOTIF: serine residue (SEVERAL)
glycine-rich region {137-143}
Ser phosphorylation site {S153}
A+T hook
SITE: 169-180
Ser phosphorylation site {S197}
A+T hook
SITE: 217-227
A+T hook
SITE: 301-309
Ser phosphorylation site {S518}
proline-rich region
SITE: 561-564
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 568-571
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S680}
Thr phosphorylation site {T840}
Ser phosphorylation site {S926}
Ser phosphorylation site {S1056}
Zinc finger
NAME: Zinc finger
SITE: 1147-1195
EFFECTOR-BOUND: Zn+2
breakpoint {1334-1335}
breakpoint {1362-1363}
MOTIF: breakpoint {1362-1363}
breakpoint {1362}
breakpoint {1406-1407}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 1431-1482
EFFECTOR-BOUND: Zn+2
MOTIF: breakpoint {1444-1445}
breakpoint {1444-1445}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 1479-1533
EFFECTOR-BOUND: Zn+2
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 1566-1627
EFFECTOR-BOUND: Zn+2
Bromo; divergent {1703-1748}
Thr phosphorylation site {T1845}
Ser phosphorylation site {S1858}
FYR N-terminal {2018-2074}
Ser phosphorylation site {S2098}
Thr phosphorylation site {T2147}
Ser phosphorylation site {S2151}
Ser phosphorylation site {S2201}
Thr phosphorylation site {T2525}
proteolytic site {2666-2667}
proteolytic site {2718-2719}
9aaTAD {2847-2855}
Ser phosphorylation site {S2955}
Ser phosphorylation site {S3036}
Thr phosphorylation site {T3372}
Ser phosphorylation site {S3511}
Ser phosphorylation site {S3515}
FYR C-terminal {3666-3747}
arginine residue {3765}
SET domain {3829-3945}
MOTIF: binding site
SITE: 3839-3839
FOR-BINDING-OF: S-adenosylmethionine
binding site
SITE: 3841-3841
FOR-BINDING-OF: S-adenosylmethionine
binding site
SITE: 3883-3883
FOR-BINDING-OF: S-adenosylmethionine
S-adenosyl-L-methionine binding {3906-3907}
Zn+2-binding site
SITE: 3909-3909
post-SET domain {3953-3969}
MOTIF: Zn+2-binding site
SITE: 3957-3957
binding site
SITE: 3958-3958
FOR-BINDING-OF: S-adenosylmethionine
Zn+2-binding site
SITE: 3959-3959
Zn+2-binding site
SITE: 3964-3964
References
UniProt :accession Q5VWQ8