ERCC6L and HTT

Number of citations: 50 (PubMedID 23275563)
Data Source: BioGRID (two hybrid)

		ERCC6L	HTT
Name		ERCC excision repair 6 like, spindle assembly checkpoint helicase	huntingtin
Structure
GO Annotations	Cellular Component	Chromosome, Centromeric Region Kinetochore Chromosome Cytosol Membrane	Nucleus Nucleoplasm Cytoplasm Endosome Early Endosome Late Endosome Autophagosome Endoplasmic Reticulum Golgi Apparatus Centriole Cytosol Inclusion Body Axon Dendrite Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Protein-containing Complex Synapse Perinuclear Region Of Cytoplasm Presynaptic Cytosol Postsynaptic Cytosol
	Molecular Function	Nucleotide Binding DNA Binding Helicase Activity Protein Binding ATP Binding DNA Translocase Activity Hydrolase Activity ATP Hydrolysis Activity	P53 Binding Phosphoprotein Phosphatase Activity Protein Binding Profilin Binding Kinase Binding Heat Shock Protein Binding Dynactin Binding Identical Protein Binding Transmembrane Transporter Binding Dynein Intermediate Chain Binding Beta-tubulin Binding
	Biological Process	DNA Repair Cell Division	Establishment Of Mitotic Spindle Orientation Retrograde Vesicle-mediated Transport, Golgi To Endoplasmic Reticulum Apoptotic Process Microtubule-based Process Golgi Organization Central Nervous System Development Regulation Of Signal Transduction Neurogenesis Positive Regulation Of Inositol 1,4,5-trisphosphate-sensitive Calcium-release Channel Activity Protein Destabilization Vocal Learning Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Cilium Assembly Vesicle Transport Along Microtubule Synaptic Vesicle Transport Positive Regulation Of Mitophagy Positive Regulation Of Lipophagy Regulation Of CAMKK-AMPK Signaling Cascade Positive Regulation Of CAMKK-AMPK Signaling Cascade Positive Regulation Of Aggrephagy Negative Regulation Of Extrinsic Apoptotic Signaling Pathway
Pathways		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation	Regulation of MECP2 expression and activity
Drugs		None	Copper
Diseases		None	Huntington's disease (HD)
GWAS		Autism spectrum disorder ( 34069769 )	Age at first birth ( 34211149 ) Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) ( 32678081 ) Alcohol consumption ( 31358974 ) Estimated glomerular filtration rate ( 31152163 ) Frailty index ( 34431594 ) Hip circumference adjusted for BMI ( 34021172 ) Household income (MTAG) ( 31844048 ) Itch intensity from mosquito bite adjusted by bite size ( 28199695 ) Mean platelet volume ( 32888494 ) Monobrow ( 27182965 ) Myocardial infarction ( 33532862 ) Neutrophil count ( 32888494 ) Parental lifespan ( 30642433 ) Platelet count ( 32888494 ) Serum sulfate level ( 27412988 ) Tuberculosis ( 29036319 ) Type 2 diabetes ( 30297969 ) Walking pace ( 33128006 ) White blood cell count ( 32888494 ) Worry too long after an embarrassing experience ( 29500382 ) Worry/vulnerability (special factor of neuroticism) ( 30867560 )
Interacting Genes		6 interacting genes: CDK1 CFTR HTT LMO4 PLK1 ZDHHC17	111 interacting genes: AKT1 AMFR AP2A2 BDKRB1 CASP1 CASP3 CASP6 CBS CEP126 CHD3 CHUK CREBBP CRMP1 CTBP1 DLG4 DNALI1 DPPA4 DUSP10 ECH1 EGFR ELP1 ERCC6L ETV4 EVL F8A1 FEZ1 FICD FTL GAPDH GGA2 GIT1 GOLPH3L GPRASP2 GRB2 H2AP H3C10 HAP1 HEYL HIP1 HIP1R HOXC11 HOXC4 HSP90AA1 HSPA8 HYPK IFT20 IKBKB ING5 KAT2B MAGEA3 MAGEB18 MAGEB6 MAP3K10 MBD1 MED21 MED31 MID1 MRFAP1 MRFAP1L1 MTSS1 NCOR1 NUP58 OPTN OSTF1 PACSIN1 PDK2 PEX11B PFN2 PIAS1 PIAS4 PIK3R1 PML PPP2CA PRPF40A PRPF40B PSMC5 PSME4 RASA1 REST RHEB RNF20 RPS6KB1 SAP30 SETD2 SH3GL3 SH3GLB1 SIN3A SP1 SUMO1 SYMPK TACC1 TAF4 TBP TCERG1 TGM2 TP53 TPR TRAFD1 TRIP10 TTC23 TUBB UBAC1 UBE2E3 UBE2K UTP14A VCP XRCC6 ZDHHC17 ZFYVE19 ZNF451 ZNF655
Entrez ID		54821	3064
HPRD ID		10974	00883
Ensembl ID		ENSG00000186871	ENSG00000197386
Uniprot IDs		B5MDQ0 Q2NKX8	P42858
PDB IDs		5JNO	2LD0 2LD2 3IO4 3IO6 3IOR 3IOT 3IOU 3IOV 3IOW 3LRH 4FE8 4FEB 4FEC 4FED 4RAV 6EZ8 6N8C 6RMH 6X9O 6YEJ 7DXJ 7DXK 8R2O 8SAH 8VLX 8W15
GO Terms Enriched among Interactors		Mitotic Nuclear Membrane Disassembly Golgi Organization Microtubule Cytoskeleton Organization Involved In Mitosis Membrane Disassembly Nuclear Membrane Disassembly Golgi-associated Vesicle Membrane Protein Localization To Site Of Double-strand Break Mitotic G2 DNA Damage Checkpoint Signaling Chromosome Condensation Positive Regulation Of Ion Transmembrane Transporter Activity Positive Regulation Of Transporter Activity Establishment Of Mitotic Spindle Orientation Spindle Microtubule Establishment Of Mitotic Spindle Localization Establishment Of Spindle Orientation Nuclear Membrane Organization Centrosome Cycle Mitotic G2/M Transition Checkpoint G2/M Transition Of Mitotic Cell Cycle Cell Cycle G2/M Phase Transition Establishment Of Spindle Localization Protein Destabilization Spindle Localization Regulation Of Cellular Component Organization Negative Regulation Of Cell Cycle G2/M Phase Transition Pronuclear Fusion Mitotic DNA Integrity Checkpoint Signaling Microtubule Organizing Center Organization Negative Regulation Of G2/M Transition Of Mitotic Cell Cycle Microtubule Cytoskeleton Organization Positive Regulation Of Protein Localization Mitotic DNA Damage Checkpoint Signaling Regulation Of Transmembrane Transporter Activity Intracellularly ATP-gated Chloride Channel Activity Positive Regulation Of Voltage-gated Chloride Channel Activity Sec61 Translocon Complex Binding Regulation Of Monoatomic Ion Transmembrane Transporter Activity Perforant Pathway To Dendrate Granule Cell Synapse Organelle Localization Positive Regulation Of Protein Localization To Nucleus DNA Damage Checkpoint Signaling Protein Localization To Chromosome Mitotic DNA-templated DNA Replication Regulation Of G2/M Transition Of Mitotic Cell Cycle Regulation Of Sister Chromatid Segregation Cyclin B1-CDK1 Complex Cyclin A1-CDK1 Complex Regulation Of Programmed Cell Death Regulation Of Cell Cycle G2/M Phase Transition Cyclin A2-CDK1 Complex	Protein Binding Cellular Response To Stress Nucleoplasm Nucleus Identical Protein Binding Positive Regulation Of Cellular Component Biogenesis Cytoplasm Ubiquitin Protein Ligase Binding Regulation Of Signal Transduction Regulation Of Protein Stability Negative Regulation Of Metabolic Process Positive Regulation Of Cellular Component Organization Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Metabolic Process Regulation Of Programmed Cell Death Regulation Of Primary Metabolic Process Positive Regulation Of Protein-containing Complex Assembly Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Cell Communication Regulation Of Signaling Cytosol Regulation Of Cellular Component Organization Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Regulation Of Innate Immune Response Regulation Of Macromolecule Metabolic Process Regulation Of RNA Metabolic Process Negative Regulation Of RNA Metabolic Process Regulation Of Intracellular Signal Transduction Protein Modification Process Negative Regulation Of Macromolecule Metabolic Process Protein Stabilization RNA Polymerase II-specific DNA-binding Transcription Factor Binding Regulation Of Gene Expression Negative Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Transcription By RNA Polymerase II Transcription Corepressor Activity Positive Regulation Of Organelle Organization Interleukin-18-mediated Signaling Pathway Regulation Of Defense Response Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Biosynthetic Process Post-translational Protein Modification Transcription Coregulator Activity Regulation Of Cellular Response To Stress Protein-containing Complex Positive Regulation Of Metabolic Process