EFHC1 and PAX6

Number of citations: 50 (PubMedID 32296183)
Data Source: BioGRID (two hybrid)

		EFHC1	PAX6
Name		EF-hand domain containing 1	paired box 6
Structure
GO Annotations	Cellular Component	Spindle Pole Cytoplasm Centrosome Spindle Cytoskeleton Axonemal Microtubule Cilium Axoneme Motile Cilium Sperm Flagellum Cell Projection Neuronal Cell Body Mitotic Spindle Axonemal A Tubule Inner Sheath	Chromatin Nucleus Nucleoplasm Cytoplasm Cytosol
	Molecular Function	Calcium Ion Binding Protein Binding Alpha-tubulin Binding	Transcription Cis-regulatory Region Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding RNA Polymerase II Core Promoter Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Transcription Coregulator Binding DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding DNA-binding Transcription Factor Activity RNA Binding Protein Binding Protein Kinase Binding Chromatin DNA Binding Ubiquitin Protein Ligase Binding Histone Acetyltransferase Binding Sequence-specific DNA Binding Co-SMAD Binding R-SMAD Binding HMG Box Domain Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Mitotic Cytokinesis Mitotic Spindle Organization Cerebral Cortex Cell Migration Flagellated Sperm Motility Regulation Of Cell Division Cilium-dependent Cell Motility	Negative Regulation Of Transcription By RNA Polymerase II Establishment Of Mitotic Spindle Orientation Blood Vessel Development Eye Development Cell Fate Determination Neuron Migration Positive Regulation Of Neuroblast Proliferation Lens Development In Camera-type Eye Regionalization Type B Pancreatic Cell Differentiation Pancreatic A Cell Development Chromatin Remodeling Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Smoothened Signaling Pathway Nervous System Development Neuroblast Proliferation Negative Regulation Of Neuroblast Proliferation Axonogenesis Axon Guidance Central Nervous System Development Brain Development Sensory Organ Development Salivary Gland Morphogenesis Visual Perception Cell Population Proliferation Response To Wounding Anatomical Structure Morphogenesis Regulation Of Asymmetric Cell Division Animal Organ Morphogenesis Dorsal/ventral Axis Specification Anterior/posterior Pattern Specification Dorsal/ventral Pattern Formation Gene Expression Regulation Of Gene Expression Positive Regulation Of Gene Expression Ventral Spinal Cord Development Pallium Development Oligodendrocyte Cell Fate Specification Cerebral Cortex Regionalization Forebrain Dorsal/ventral Pattern Formation Commitment Of Neuronal Cell To Specific Neuron Type In Forebrain Forebrain-midbrain Boundary Formation Telencephalon Regionalization Pituitary Gland Development Habenula Development Cerebral Cortex Development Signal Transduction Involved In Regulation Of Gene Expression Cell Differentiation Neuron Differentiation Keratinocyte Differentiation Regulation Of Cell Migration Epithelial Cell Differentiation Positive Regulation Of Epithelial Cell Differentiation Forebrain Development Lacrimal Gland Development Protein Localization To Organelle Eye Photoreceptor Cell Development Glucose Homeostasis Camera-type Eye Development Cell Fate Commitment Regulation Of Neuron Differentiation Negative Regulation Of Neuron Differentiation Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Timing Of Cell Differentiation Embryonic Camera-type Eye Morphogenesis Neuron Fate Commitment Astrocyte Differentiation Negative Regulation Of Epithelial Cell Proliferation Regulation Of Neurogenesis Negative Regulation Of Neurogenesis Nervous System Process Retina Development In Camera-type Eye Iris Morphogenesis Cornea Development In Camera-type Eye Neural Precursor Cell Proliferation Positive Regulation Of MiRNA Transcription Cellular Response To Leukemia Inhibitory Factor Negative Regulation Of Neural Precursor Cell Proliferation
Pathways		None	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 Formation of the anterior neural plate
Diseases		Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone	Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON) 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)
GWAS		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 )	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 )
Interacting Genes		68 interacting genes: AKT1 CACNA1E CALCOCO2 CFAP161 CHCHD3 CIMIP1 DOK7 EFHC2 EIF4ENIF1 FMR1 GADD45B GAS2L2 GOLGA2 HOMER3 IHO1 IKZF3 IMP3 ITGB3BP KCNJ5-AS1 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 YJU2B ZBED1	146 interacting genes: ACOT12 AIRIM AP1M1 APP ARIH2 ATP6V0D2 ATP6V1C2 BANP BCL2L15 BTG3 CATSPERT CBR1 CBS CCDC6 CCL26 CDK3 CDX2 CFAP298 CGGBP1 CHAF1A CIB3 CINP CKS1B CSNK2A1 CTNNA3 CXorf38 DHPS DIAPH1 DLG1 DNAAF19 DSCAM DYNLL1 EAF1 EFHC1 EIF1AD EN1 EP300 ESRRG FAM50B GAS2L2 GATD3 GCM2 GEMIN2 GPANK1 GRHL2 HGS HIPK2 HMBOX1 HMGB3 HNF1B 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 NFIC NFIX NFKBID NFYC NGLY1 NKIRAS2 PATJ PBX1 PCP4 PDE4C PICK1 PIN1 PKNOX1 POLR3C POLR3GL PPIL4 PRKAG1 PROX1 PSORS1C2 QRICH1 RANBP3 RAX RB1 RGS3 RNF111 RSPH1 SAE1 SEC14L4 SET SHANK3 SIGLEC6 SIM2 SIX3 SLC12A8 SMARCA4 SOD1 SOX10 SOX3 SPDYC SPG21 SRSF11 STAC SUMO1 SUMO3 SYNJ1 TBP TCP11L1 THOC1 TLK1 TLK2 TRAPPC6A TRIM11 TRIP10 TTC3 UBE2F UBE2K UBE3A UBXN2B UBXN7 USHBP1 USP16 USP25 VCX2 VSX2 WASHC3 WDR4 ZBED1 ZNF124 ZNF410
Entrez ID		114327	5080
HPRD ID		10583	06167
Ensembl ID		ENSG00000096093	ENSG00000007372
Uniprot IDs		B2CKC5 Q5JVL4	A0A1W2PQG7 A0A1W2PRA8 A0A1W2PSB5 D1KF47 F1T0F8 P26367 Q66SS1
PDB IDs		7UNG 8J07	2CUE 6PAX
GO Terms Enriched among Interactors		Protein Binding	Protein Binding Nucleus Chromatin Sequence-specific Double-stranded DNA Binding Positive Regulation Of Transcription By RNA Polymerase II DNA Binding Nucleoplasm DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Pattern Specification Process Eye Development Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Sensory Organ Development Identical Protein Binding Camera-type Eye Development Positive Regulation Of RNA Metabolic Process Regulation Of Transcription By RNA Polymerase II Anterior/posterior Pattern Specification Sequence-specific DNA Binding Protein Localization To Microtubule Negative Regulation Of Transcription By RNA Polymerase II Regionalization PML Body DNA-binding Transcription Factor Activity Positive Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Negative Regulation Of RNA Metabolic Process Regulation Of RNA Metabolic Process Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Biosynthetic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Gland Development Regulation Of Nucleobase-containing Compound Metabolic Process Protein Polymerization TRNA Methyltransferase Activator Activity Positive Regulation Of Macromolecule Metabolic Process Cytosol Positive Regulation Of Metabolic Process Embryonic Morphogenesis Mitotic Spindle Astral Microtubule End Brain Development Ubiquitin Binding Regulation Of Gene Expression Neuron Differentiation Lens Induction In Camera-type Eye