PAX6 and EFHC1

Data Source:
BioGRID (two hybrid)

		PAX6	EFHC1
Description		paired box 6	EF-hand domain containing 1
Image			No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm Cytosol	Spindle Pole Centrosome Axoneme Neuronal Cell Body Mitotic Spindle
	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	Calcium Ion Binding Protein Binding Protein C-terminus Binding Alpha-tubulin 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	Mitotic Cytokinesis Mitotic Spindle Organization Cerebral Cortex Cell Migration Regulation Of Cell Division Cilium-dependent Cell Motility
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
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)	Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
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)	Atopic march ( 26542096) Clozapine-induced myocarditis in schizophrenia ( 32066683) Mean platelet volume ( 27863252) Perceived intensity of glucose ( 31005972) Post bronchodilator FEV1/FVC ratio in COPD ( 26634245) White blood cell count ( 32888494)
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	67 interacting genes: C11orf45 C20orf85 CACNA1E CALCOCO2 CCDC130 CFAP161 CHCHD3 DOK7 EFHC2 EIF4ENIF1 FMR1 GADD45B GAS2L2 GOLGA2 HOMER3 IHO1 IKZF3 IMP3 ITGB3BP KCTD4 KRT15 KRT18 KRT75 LMO2 LRRC61 MAMDC2 MBD3L1 METTL27 MIIP MRNIP MTFR1L NQO2 NRIP3 NUP54 OIP5 PAX6 PBX1 PBX2 PMF1 PRR5L RCN1 REL RIMBP3 RNF125 SAPCD1 SELENOV SH3GLB2 SLAIN1 SNAI1 SORBS3 SPATA2 SYNGAP1 TCF4 TEKT1 TEX11 TLE5 TP53BP2 TRAF2 TRIP6 TRPM2 TSGA10IP TTC23L UBAP2 VBP1 WASF1 WHRN ZBED1
Entrez ID		5080	114327
HPRD ID		06167	10583
Ensembl ID		ENSG00000007372	ENSG00000096093
Uniprot IDs		A0A1W2PRA8 D1KF47 F1T0F8 P26367 Q66SS1	B2CKC5 Q5JVL4
PDB IDs		2CUE 6PAX
Enriched GO Terms of Interacting Partners?
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