Annotations: 9C4U

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A	Menin	SMAD binding protein binding binding R-SMAD binding DNA binding sequence-specific DNA binding sequence-specific double-stranded DNA binding transcription cis-regulatory region binding double-stranded DNA binding nucleic acid binding transcription regulatory region nucleic acid binding phosphoprotein binding DNA secondary structure binding Y-form DNA binding SMAD binding protein binding binding R-SMAD binding DNA binding sequence-specific DNA binding sequence-specific double-stranded DNA binding transcription cis-regulatory region binding double-stranded DNA binding nucleic acid binding transcription regulatory region nucleic acid binding phosphoprotein binding DNA secondary structure binding Y-form DNA binding chromatin binding protein-macromolecule adaptor activity molecular adaptor activity four-way junction DNA binding	cellular response to stimulus cellular response to stress response to stimulus DNA damage response response to stress cellular process regulation of cellular process negative regulation of biological process RNA metabolic process regulation of primary metabolic process negative regulation of RNA biosynthetic process RNA biosynthetic process nucleobase-containing compound metabolic process DNA-templated transcription cellular response to stimulus cellular response to stress response to stimulus DNA damage response response to stress cellular process regulation of cellular process negative regulation of biological process RNA metabolic process regulation of primary metabolic process negative regulation of RNA biosynthetic process RNA biosynthetic process nucleobase-containing compound metabolic process DNA-templated transcription nucleic acid biosynthetic process regulation of RNA metabolic process negative regulation of cellular process negative regulation of nucleobase-containing compound metabolic process regulation of nucleobase-containing compound metabolic process regulation of RNA biosynthetic process negative regulation of macromolecule metabolic process regulation of biosynthetic process negative regulation of DNA-templated transcription regulation of biological process negative regulation of metabolic process biological regulation primary metabolic process regulation of macromolecule metabolic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process regulation of gene expression biosynthetic process negative regulation of biosynthetic process negative regulation of macromolecule biosynthetic process metabolic process regulation of macromolecule biosynthetic process macromolecule metabolic process regulation of DNA-templated transcription regulation of metabolic process negative regulation of RNA metabolic process positive regulation of biological process positive regulation of macromolecule biosynthetic process positive regulation of gene expression, epigenetic cellular component organization positive regulation of metabolic process transcription by RNA polymerase II positive regulation of biosynthetic process chromatin organization chromatin remodeling positive regulation of macromolecule metabolic process cellular component organization or biogenesis positive regulation of cellular process transcription initiation at RNA polymerase II promoter epigenetic regulation of gene expression DNA-templated transcription initiation positive regulation of gene expression transcription initiation-coupled chromatin remodeling negative regulation of DNA-binding transcription factor activity negative regulation of molecular function regulation of molecular function regulation of DNA-binding transcription factor activity positive regulation of cell communication cell surface receptor protein serine/threonine kinase signaling pathway positive regulation of signal transduction cellular response to growth factor stimulus signaling cellular response to transforming growth factor beta stimulus regulation of transmembrane receptor protein serine/threonine kinase signaling pathway regulation of signal transduction cell communication regulation of transforming growth factor beta receptor signaling pathway positive regulation of response to stimulus cellular response to endogenous stimulus signal transduction enzyme-linked receptor protein signaling pathway regulation of signaling cell surface receptor signaling pathway regulation of cellular response to transforming growth factor beta stimulus response to endogenous stimulus positive regulation of transforming growth factor beta receptor signaling pathway regulation of cellular response to growth factor stimulus positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of cellular response to transforming growth factor beta stimulus response to transforming growth factor beta regulation of response to stimulus transforming growth factor beta receptor signaling pathway regulation of cell communication response to growth factor transforming growth factor beta receptor superfamily signaling pathway positive regulation of signaling developmental process regulation of osteoblast differentiation multicellular organismal process regulation of developmental process cellular developmental process negative regulation of osteoblast differentiation negative regulation of developmental process regulation of cell differentiation osteoblast differentiation ossification cell differentiation negative regulation of cell differentiation negative regulation of cell cycle cell cycle regulation of cell cycle regulation of protein modification process regulation of protein phosphorylation negative regulation of phosphate metabolic process regulation of phosphate metabolic process phosphate-containing compound metabolic process negative regulation of protein modification process protein metabolic process protein modification process phosphorus metabolic process negative regulation of protein metabolic process protein phosphorylation phosphorylation regulation of protein metabolic process negative regulation of protein phosphorylation macromolecule modification negative regulation of phosphorus metabolic process regulation of phosphorylation regulation of phosphorus metabolic process negative regulation of phosphorylation regulation of catalytic activity negative regulation of catalytic activity regulation of transferase activity negative regulation of kinase activity negative regulation of transferase activity regulation of cyclin-dependent protein serine/threonine kinase activity regulation of kinase activity regulation of protein serine/threonine kinase activity negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of protein serine/threonine kinase activity negative regulation of cyclin-dependent protein kinase activity negative regulation of protein kinase activity regulation of protein kinase activity osteoblast development anatomical structure development cell development negative regulation of signaling negative regulation of intracellular signal transduction intracellular signal transduction negative regulation of cell communication negative regulation of JNK cascade regulation of intracellular signal transduction JNK cascade intracellular signaling cassette negative regulation of response to stimulus regulation of JNK cascade regulation of MAPK cascade negative regulation of signal transduction MAPK cascade negative regulation of MAPK cascade response to light stimulus response to radiation response to abiotic stimulus response to UV DNA metabolic process DNA repair negative regulation of cell population proliferation cell population proliferation regulation of cell population proliferation mononuclear cell differentiation lymphocyte activation lymphocyte differentiation cell activation involved in immune response CD4-positive, alpha-beta T cell differentiation CD4-positive, alpha-beta T cell differentiation involved in immune response alpha-beta T cell differentiation involved in immune response leukocyte activation alpha-beta T cell differentiation type 2 immune response T cell activation involved in immune response alpha-beta T cell activation involved in immune response T cell activation CD4-positive, alpha-beta T cell activation leukocyte activation involved in immune response alpha-beta T cell activation T-helper 2 cell differentiation T cell differentiation lymphocyte activation involved in immune response immune response T-helper cell differentiation hemopoiesis cell activation T cell differentiation involved in immune response immune effector process immune system process leukocyte differentiation response to ionizing radiation response to gamma radiation regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II positive regulation of DNA-templated transcription positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by RNA polymerase II positive regulation of RNA metabolic process positive regulation of RNA biosynthetic process	membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle cellular anatomical structure organelle lumen organelle nuclear lumen nuclear matrix protein-containing complex histone methyltransferase complex membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle cellular anatomical structure organelle lumen organelle nuclear lumen nuclear matrix protein-containing complex histone methyltransferase complex catalytic complex nuclear protein-containing complex transferase complex nucleoplasm methyltransferase complex cytoplasm cytosol MLL1/2 complex cell division site cell periphery cleavage furrow membrane plasma membrane plasma membrane region membraneless organelle intracellular membraneless organelle chromatin chromosome endomembrane system endoplasmic reticulum lumen endoplasmic reticulum transcription regulator complex transcription repressor complex chromosome, telomeric region chromosomal region MLL1 complex
B	Histone-lysine N-methyltransferase 2A	sequence-specific DNA binding DNA binding binding unmethylated CpG binding nucleic acid binding protein-lysine N-methyltransferase activity histone H3 methyltransferase activity catalytic activity, acting on a protein transferase activity, transferring one-carbon groups transferase activity S-adenosylmethionine-dependent methyltransferase activity histone methyltransferase activity histone H3K4 methyltransferase activity lysine N-methyltransferase activity sequence-specific DNA binding DNA binding binding unmethylated CpG binding nucleic acid binding protein-lysine N-methyltransferase activity histone H3 methyltransferase activity catalytic activity, acting on a protein transferase activity, transferring one-carbon groups transferase activity S-adenosylmethionine-dependent methyltransferase activity histone methyltransferase activity histone H3K4 methyltransferase activity lysine N-methyltransferase activity protein methyltransferase activity histone modifying activity N-methyltransferase activity methyltransferase activity catalytic activity histone H3K4 trimethyltransferase activity S-methyltransferase activity protein-cysteine methyltransferase activity histone H3K4 monomethyltransferase activity DNA secondary structure binding minor groove of adenine-thymine-rich DNA binding identical protein binding protein binding modification-dependent protein binding lysine-acetylated histone binding histone binding acetylation-dependent protein binding chromatin binding protein homodimerization activity protein dimerization activity cation binding transition metal ion binding zinc ion binding ion binding metal ion binding small molecule binding	regulation of cellular process positive regulation of biological process RNA metabolic process positive regulation of macromolecule biosynthetic process positive regulation of gene expression, epigenetic cellular component organization RNA biosynthetic process nucleobase-containing compound metabolic process positive regulation of metabolic process DNA-templated transcription nucleic acid biosynthetic process transcription by RNA polymerase II positive regulation of biosynthetic process chromatin organization regulation of cellular process positive regulation of biological process RNA metabolic process positive regulation of macromolecule biosynthetic process positive regulation of gene expression, epigenetic cellular component organization RNA biosynthetic process nucleobase-containing compound metabolic process positive regulation of metabolic process DNA-templated transcription nucleic acid biosynthetic process transcription by RNA polymerase II positive regulation of biosynthetic process chromatin organization chromatin remodeling positive regulation of macromolecule metabolic process cellular component organization or biogenesis positive regulation of cellular process transcription initiation at RNA polymerase II promoter regulation of biosynthetic process regulation of biological process epigenetic regulation of gene expression biological regulation primary metabolic process regulation of macromolecule metabolic process gene expression nucleobase-containing compound biosynthetic process macromolecule biosynthetic process nucleic acid metabolic process DNA-templated transcription initiation regulation of gene expression biosynthetic process positive regulation of gene expression transcription initiation-coupled chromatin remodeling regulation of macromolecule biosynthetic process metabolic process cellular process macromolecule metabolic process regulation of metabolic process behavior multicellular organismal process exploration behavior macromolecule modification protein metabolic process protein modification process multicellular organismal-level homeostasis homeostatic process homeostasis of number of cells within a tissue anatomical structure homeostasis tissue homeostasis homeostasis of number of cells methylation apoptotic process cell death programmed cell death response to stimulus response to potassium ion response to metal ion response to chemical rhythmic process circadian regulation of gene expression circadian rhythm developmental process cellular developmental process hemopoiesis animal organ development cell development embryo development multicellular organism development embryonic hemopoiesis cell differentiation anatomical structure development embryonic organ development immune system development spleen development immune system process hematopoietic or lymphoid organ development system development fibroblast proliferation cell population proliferation negative regulation of cell population proliferation negative regulation of biological process regulation of fibroblast proliferation regulation of cell population proliferation negative regulation of cellular process negative regulation of fibroblast proliferation definitive hemopoiesis positive regulation of DNA-templated transcription regulation of primary metabolic process regulation of RNA metabolic process regulation of nucleobase-containing compound metabolic process regulation of RNA biosynthetic process regulation of transcription by RNA polymerase II positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by RNA polymerase II positive regulation of RNA metabolic process positive regulation of RNA biosynthetic process regulation of DNA-templated transcription cellular component biogenesis cellular component assembly protein-containing complex organization protein-containing complex assembly cellular response to endogenous stimulus cellular response to growth factor stimulus response to transforming growth factor beta cellular response to transforming growth factor beta stimulus response to endogenous stimulus response to growth factor response to light stimulus system process learning learning or memory nervous system process visual learning visual behavior cognition associative learning response to radiation response to abiotic stimulus regulation of neuronal synaptic plasticity regulation of synaptic plasticity trans-synaptic signaling regulation of short-term neuronal synaptic plasticity regulation of signaling modulation of chemical synaptic transmission signaling cell-cell signaling chemical synaptic transmission cell communication synaptic signaling regulation of trans-synaptic signaling anterograde trans-synaptic signaling regulation of cell communication regulation of biological quality mononuclear cell differentiation lymphocyte activation lymphocyte differentiation cell activation involved in immune response CD4-positive, alpha-beta T cell differentiation CD4-positive, alpha-beta T cell differentiation involved in immune response alpha-beta T cell differentiation involved in immune response leukocyte activation alpha-beta T cell differentiation type 2 immune response T cell activation involved in immune response alpha-beta T cell activation involved in immune response T cell activation CD4-positive, alpha-beta T cell activation leukocyte activation involved in immune response alpha-beta T cell activation T-helper 2 cell differentiation T cell differentiation lymphocyte activation involved in immune response immune response T-helper cell differentiation cell activation T cell differentiation involved in immune response immune effector process leukocyte differentiation membrane depolarization regulation of membrane potential post-embryonic development anterior/posterior pattern specification pattern specification process regionalization regulation of cellular component organization negative regulation of DNA methylation-dependent heterochromatin formation negative regulation of heterochromatin formation negative regulation of chromatin organization negative regulation of macromolecule metabolic process regulation of heterochromatin formation regulation of chromatin organization heterochromatin formation negative regulation of cellular component organization negative regulation of metabolic process negative regulation of gene expression constitutive heterochromatin formation negative regulation of biosynthetic process negative regulation of macromolecule biosynthetic process DNA methylation-dependent constitutive heterochromatin formation negative regulation of gene expression, epigenetic	membrane-bounded organelle protein-containing complex histone methyltransferase complex intracellular anatomical structure catalytic complex nucleus membrane-enclosed lumen nuclear protein-containing complex intracellular membrane-bounded organelle transferase complex intracellular organelle lumen intracellular organelle cellular anatomical structure nucleoplasm membrane-bounded organelle protein-containing complex histone methyltransferase complex intracellular anatomical structure catalytic complex nucleus membrane-enclosed lumen nuclear protein-containing complex intracellular membrane-bounded organelle transferase complex intracellular organelle lumen intracellular organelle cellular anatomical structure nucleoplasm organelle lumen organelle methyltransferase complex nuclear lumen cytoplasm cytosol MLL1/2 complex MLL1 complex

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A	IPR007747	Menin	Family
B	IPR001965	Zinc finger, PHD-type	Domain
B	IPR046341	SET domain superfamily	Homologous Superfamily
B	IPR001214	SET domain	Domain
B	IPR044133	KMT2A, PHD domain 3	Domain
B	IPR003616	Post-SET domain	Domain
B	IPR034732	Extended PHD (ePHD) domain	Domain
B	IPR013083	Zinc finger, RING/FYVE/PHD-type	Homologous Superfamily
B	IPR036427	Bromodomain-like superfamily	Homologous Superfamily
B	IPR003888	FY-rich, N-terminal	Conserved Site
B	IPR001487	Bromodomain	Domain
B	IPR002857	Zinc finger, CXXC-type	Domain
B	IPR019787	Zinc finger, PHD-finger	Domain
B	IPR011011	Zinc finger, FYVE/PHD-type	Homologous Superfamily
B	IPR041958	KMT2A, ePHD domain	Domain
B	IPR047219	Histone-lysine N-methyltransferase 2A/2B, SET domain	Domain
B	IPR042025	KMT2A, PHD domain 2	Domain
B	IPR003889	FY-rich, C-terminal	Conserved Site
B	IPR016569	Methyltransferase, trithorax	Family
B	IPR042023	KMT2A, PHD domain 1	Domain

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A	Pharos: O00255	multiple endocrine neoplasia type 1 adrenal cortex carcinoma pancreatic insulinoma glucagonoma neuroendocrine neoplasm VIPoma prolactin-producing pituitary gland adenoma Zollinger-Ellison syndrome pancreatic cholera hyperparathyroidism 1 multiple endocrine neoplasia cancer gastrin-producing neuroendocrine tumor malignant pancreatic neoplasm non-functioning pituitary gland neoplasm multiple endocrine neoplasia type 1 adrenal cortex carcinoma pancreatic insulinoma glucagonoma neuroendocrine neoplasm VIPoma prolactin-producing pituitary gland adenoma Zollinger-Ellison syndrome pancreatic cholera hyperparathyroidism 1 multiple endocrine neoplasia cancer gastrin-producing neuroendocrine tumor malignant pancreatic neoplasm non-functioning pituitary gland neoplasm ACTH-independent macronodular adrenal hyperplasia parathyroid gland adenoma Carney complex hyperparathyroidism malignant mesothelioma neuroendocrine carcinoma pancreatic neoplasm adenoma attention deficit hyperactivity disorder, inattentive type familial isolated hyperparathyroidism lung cancer pancreatic endocrine carcinoma adrenal carcinoma pituitary gland adenoma gout malignant colon neoplasm
B	Pharos: Q03164	myeloid leukemia acute myeloid leukemia acute monocytic leukemia Wiedemann-Steiner syndrome transitional cell carcinoma urinary bladder cancer cancer Chromosome Aberrations acute biphenotypic leukemia adenocarcinoma leukemia chronic monocytic leukemia acute myelomonocytic leukemia M4 tubular adenocarcinoma prostate cancer myeloid leukemia acute myeloid leukemia acute monocytic leukemia Wiedemann-Steiner syndrome transitional cell carcinoma urinary bladder cancer cancer Chromosome Aberrations acute biphenotypic leukemia adenocarcinoma leukemia chronic monocytic leukemia acute myelomonocytic leukemia M4 tubular adenocarcinoma prostate cancer granular cell carcinoma small cell lung carcinoma lymphoid leukemia osteosarcoma Cornelia de Lange syndrome Pick disease cribriform carcinoma of breast gastric neoplasm small cell carcinoma spina bifida hereditary diffuse gastric adenocarcinoma tuberculosis urinary bladder neoplasm Alzheimer disease malignant ependymoma breast cancer medulloblastoma celiac disease ovarian cancer Cornelia de Lange syndrome 1 primitive neuroectodermal tumor psoriasis acute lymphoblastic leukemia glioblastoma hematologic disease subependymal giant cell astrocytoma intellectual disability astrocytic tumor bilineal acute myeloid leukemia malignant mesothelioma Burkitt lymphoma metabolic syndrome X childhood acute lymphoblastic leukemia oligodendroglioma congenital anemia pancreatic ductal adenocarcinoma cribriform carcinoma gastric cancer schizophrenia hepatocellular carcinoma acute undifferentiated leukemia large cell medulloblastoma X-linked mixed deafness with perilymphatic gusher atypical teratoid rhabdoid tumor brain glioma

Protein Modification Annotation

Modified Residue(s)
Chain	Residue(s)	Description
B	NH2	RESID: AA0081 , AA0083 , AA0084 , AA0086 , AA0087 , AA0088 , AA0090 , AA0091 , AA0092 , AA0093 , AA0095 , AA0096 , AA0097 , AA0098 , AA0099 , AA0100 PSI-MOD : L-alanine amide MOD:00090 , L-asparagine amide MOD:00092 , L-aspartic acid 1-amide MOD:00093 , L-glutamine amide MOD:00095 , L-glutamic acid 1-amide MOD:00096 , glycine amide MOD:00097 , L-isoleucine amide MOD:00099 , L-leucine amide MOD:00100 , L-lysine amide MOD:00101 , L-methionine amide MOD:00102 , L-proline amide MOD:00104 , L-serine amide MOD:00105 , L-threonine amide MOD:00106 , L-tryptophan amide MOD:00107 , L-tyrosine amide MOD:00108 , L-valine amide MOD:00109