PAX6 and MITF

Data Source:
HPRD (in vivo)

		PAX6	MITF
Description		paired box 6	melanocyte inducing transcription factor
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm Cytosol	Chromatin Nucleus Nucleoplasm Cytoplasm Protein-containing Complex
	Molecular Function	Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Transcription Factor Binding Protein Kinase Binding Histone Acetyltransferase Binding R-SMAD Binding Sequence-specific Double-stranded DNA Binding	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific Chromatin Binding Protein Binding Protein Dimerization Activity E-box Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Blood Vessel Development Eye Development Pancreatic A Cell Development Regulation Of Transcription By RNA Polymerase II Central Nervous System Development Visual Perception Response To Wounding Animal Organ Morphogenesis Positive Regulation Of Gene Expression Ventral Spinal Cord Development Glucose Homeostasis Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Neuron Fate Commitment Anatomical Structure Development Negative Regulation Of Neurogenesis Iris Morphogenesis Cornea Development In Camera-type Eye Positive Regulation Of Core Promoter Binding	Negative Regulation Of Transcription By RNA Polymerase II Transcription, DNA-templated Regulation Of Transcription, DNA-templated Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Gene Expression Osteoclast Differentiation Melanocyte Differentiation Negative Regulation Of Cell Migration Regulation Of Cell Population Proliferation Camera-type Eye Development Canonical Wnt Signaling Pathway Involved In Negative Regulation Of Apoptotic Process Cell Fate Commitment Regulation Of Osteoclast Differentiation Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Bone Remodeling Protein-containing Complex Assembly Positive Regulation Of DNA-templated Transcription, Initiation Regulation Of RNA Biosynthetic Process
Pathways		Regulation of gene expression in beta cells Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Activation of anterior HOX genes in hindbrain development during early embryogenesis	SUMOylation of transcription factors
Drugs
Diseases		Aniridia Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP) Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)	Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA) Waardenburg syndrome (WS) Malignant melanoma
GWAS		anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Body mass index ( 22344219 28892062) Depression ( 29700475) Diastolic blood pressure ( 27841878) Feeling worry ( 29500382) General factor of neuroticism ( 30867560) Irritable mood ( 29500382) Major depressive disorder ( 27479909) Neurociticism ( 29500382) Optic disc area ( 28073927) Refractive error ( 32231278) Systolic blood pressure ( 27841878)	Apolipoprotein B levels ( 32203549) Blond vs. brown/black hair color ( 30531825) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Carotid intima media thickness x smoking interaction ( 32117412) Chronotype ( 30696823) Circulating fibroblast growth factor 23 levels ( 30217807) Coronary artery disease ( 33020668) Cortical surface area (MOSTest) ( 32665545) Cutaneous malignant melanoma ( 32341527) Hematocrit ( 32888494 27863252) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) LDL cholesterol levels ( 32203549) Low density lipoprotein cholesterol levels ( 32154731) Neutrophil count ( 32888494) Nevus count or cutaneous melanoma ( 32341527) Platelet count ( 32888494) Plateletcrit ( 32888494) Pulse pressure ( 27841878) QRS complex (12-leadsum) ( 27659466) Red blood cell count ( 32888494 27863252) Renal underexcretion gout ( 32238385) Severe influenza A (H1N1) infection ( 26379185) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 27841878) Triglyceride levels ( 32203549)
Interacting Genes		126 interacting genes: ACOT12 AP1M1 ARIH2 ATP6V0D2 ATP6V1C2 BANP BCL2L15 C1orf109 C2CD6 CCDC103 CCDC6 CCL26 CDK3 CDX2 CGGBP1 CHAF1A CIB3 CINP CKS1B CSNK2A1 CTNNA3 CXorf38 DHPS DIAPH1 DLG1 DYNLL1 EAF1 EFHC1 EIF1AD EN1 EP300 ESRRG FAM50B GAS2L2 GCM2 GEMIN2 GPANK1 GRHL2 HGS HIPK2 HMBOX1 HMGB3 HNRNPC HOMER3 HOXA1 HOXB1 HOXC8 HOXC9 IPO13 KANK2 KCTD7 KRTAP9-3 KRTAP9-8 LARP4 LHX2 LNPK LONRF1 LXN LYSMD1 MAFG MAPRE1 MFAP1 MID1 MIPOL1 MISP MITF MORN3 MRPL53 NCDN NFKBID NFYC NGLY1 NKIRAS2 PATJ PBX1 PDE4C PICK1 PIN1 PKNOX1 POLR3C POLR3GL PPIL4 PRKAG1 PROX1 PSORS1C2 QRICH1 RANBP3 RAX RB1 RGS3 RNF111 SAE1 SEC14L4 SET SHANK3 SIGLEC6 SIX3 SLC12A8 SMARCA4 SOX10 SOX3 SPDYC SPG21 SRSF11 STAC SUMO1 TBP TCP11L1 THOC1 TLK1 TLK2 TRAPPC6A TRIM11 TRIP10 UBE2F UBE2K UBE3A UBXN2B UBXN7 USHBP1 VCX2 VSX2 WASHC3 ZBED1 ZNF124 ZNF410	30 interacting genes: ADRB2 APP CTNNB1 EBP EP300 FBXO7 FOS GSK3B HINT1 HK3 LEF1 MAPK1 MAPK14 MARK3 OTX2 PATZ1 PAX3 PAX6 PIAS1 PIAS2 PIAS3 PSMD14 RPS6KA1 SPI1 STUB1 SUMO1 TFE3 TFEB TFEC UBE2I
Entrez ID		5080	4286
HPRD ID		06167	01138
Ensembl ID		ENSG00000007372	ENSG00000187098
Uniprot IDs		A0A1W2PRA8 D1KF47 F1T0F8 P26367 Q66SS1	A0A087WXU1 B4DNC7 O75030 Q8WYR3
PDB IDs		2CUE 6PAX	4C7N
Enriched GO Terms of Interacting Partners?
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