Protein: Q9Y6X0

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
Q9Y6X0 (Uniprot) SETBP_HUMAN SETBP1 SET-binding protein human No
No associated function.
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0036211 protein modification process 201 GO:0006396 RNA processing 681 5.60e-03 3.14e-16
Module ID (MoonGO) GO ID (BP) GO Name
191 GO:0006355 regulation of transcription, DNA-templated
201 GO:0006464 cellular protein modification process
201 GO:0031325 positive regulation of cellular metabolic process
201 GO:0010604 positive regulation of macromolecule metabolic process
201 GO:0051173 positive regulation of nitrogen compound metabolic process
201 GO:0010646 regulation of cell communication
201 GO:0023051 regulation of signaling
201 GO:0006355 regulation of transcription, DNA-templated
201 GO:0007165 signal transduction
463 GO:0090304 nucleic acid metabolic process
463 GO:0060255 regulation of macromolecule metabolic process
654 GO:0010467 gene expression
654 GO:0019538 protein metabolic process
654 GO:0060255 regulation of macromolecule metabolic process
681 GO:0008380 RNA splicing
681 GO:0006397 mRNA processing
681 GO:0051252 regulation of RNA metabolic process
681 GO:0010468 regulation of gene expression
753 GO:0044267 cellular protein metabolic process
753 GO:0034654 nucleobase-containing compound biosynthetic process
753 GO:0031325 positive regulation of cellular metabolic process
753 GO:0010604 positive regulation of macromolecule metabolic process
753 GO:0051173 positive regulation of nitrogen compound metabolic process
753 GO:0031326 regulation of cellular biosynthetic process
753 GO:0019219 regulation of nucleobase-containing compound metabolic process
753 GO:0009966 regulation of signal transduction
Module ID (MoonGO) GO ID (CC) GO Name
191 GO:0031981 nuclear lumen
201 GO:0005829 cytosol
201 GO:0005654 nucleoplasm
463 GO:0005654 nucleoplasm
654 GO:0005654 nucleoplasm
681 GO:0005654 nucleoplasm
753 GO:0005634 nucleus
No results found.
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005634 nucleus IDA
GO:0005829 cytosol IDA
GO:0016604 nuclear body IDA
No pairs of PrOnto dissimilar CC GO terms found.
PMID Article Title
9455477 Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.
11231286 Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.
12168954 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
16177791 DNA sequence and analysis of human chromosome 18.
16959974 The consensus coding sequences of human breast and colorectal cancers.
19690332 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
20436468 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
23222956 Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
23628959 SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
23648668 SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.
23832011 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
23832012 Somatic SETBP1 mutations in myeloid malignancies.
23889083 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
25217958 Refining analyses of copy number variation identifies specific genes associated with developmental delay.
OMIM ID Disease Name
269150 Schinzel-Giedion midface retraction syndrome
601626 Leukemia, acute myelogenous
607785 Leukemia, juvenile myelomonocytic
608232 Leukemia, chronic myeloid, atypical
614286 Myelodysplastic syndrome
Domain Name Domain ID Source
AT_hook_DNA-bd_motif IPR017956 InterPro
AT_hook SM00384 SMART
T00063 T00063 PIR