MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
2VAY	1.94	Calmodulin complexed with CaV1.1 IQ peptide
6B27	1.73	Crystal structure of human STAC2 Tandem SH3 Domains (296-411) in complex with a CaV1.1 II-III loop peptide

GO term

GO ontology	GO term	GO description
Biological Process	GO:0098703	calcium ion import across plasma membrane
Biological Process	GO:0070588	calcium ion transmembrane transport
Biological Process	GO:0006816	calcium ion transport
Biological Process	GO:0071313	cellular response to caffeine
Biological Process	GO:0007029	endoplasmic reticulum organization
Biological Process	GO:0002074	extraocular skeletal muscle development
Biological Process	GO:0006936	muscle contraction
Biological Process	GO:0007520	myoblast fusion
Biological Process	GO:0007528	neuromuscular junction development
Biological Process	GO:0045933	positive regulation of muscle contraction
Biological Process	GO:0034765	regulation of monoatomic ion transmembrane transport
Biological Process	GO:0043501	skeletal muscle adaptation
Biological Process	GO:0048741	skeletal muscle fiber development
Biological Process	GO:0001501	skeletal system development
Biological Process	GO:0006941	striated muscle contraction
Molecular Function	GO:0005516	calmodulin binding
Molecular Function	GO:0008331	high voltage-gated calcium channel activity
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0140677	molecular function activator activity
Molecular Function	GO:0036094	small molecule binding
Molecular Function	GO:0005245	voltage-gated calcium channel activity
Cellular Component	GO:0031674	I band
Cellular Component	GO:1990454	L-type voltage-gated calcium channel complex
Cellular Component	GO:0030315	T-tubule
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0016529	sarcoplasmic reticulum
Cellular Component	GO:0005891	voltage-gated calcium channel complex

InterPro / Pfam

InterPro	InterPro name
IPR002077	Voltage-dependent calcium channel, alpha-1 subunit
IPR005446	Voltage-dependent calcium channel, L-type, alpha-1 subunit
IPR005450	Voltage-dependent calcium channel, L-type, alpha-1S subunit
IPR005821	Ion transport domain
IPR014873	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
IPR027359	Voltage-dependent channel domain superfamily
IPR031649	Voltage-dependent L-type calcium channel, IQ-associated domain

Pfam	Pfam name
PF00520	Ion transport protein
PF08763	Voltage gated calcium channel IQ domain
PF16905	Voltage-dependent L-type calcium channel, IQ-associated

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-419037	NCAM1 interactions	Leaf	R-HSA-1266738	Developmental Biology

Subcellular location

Location	ECO term	Pubmed
Cell membrane, sarcolemma, T-tubule	ECO:0000250

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000016	Urinary retention
HP:0000218	High palate
HP:0000597	Ophthalmoparesis
HP:0000602	Ophthalmoplegia
HP:0000836	Hyperthyroidism
HP:0000853	Goiter
HP:0000975	Hyperhidrosis
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001324	Muscle weakness
HP:0001337	Tremor
HP:0001513	Obesity
HP:0001649	Tachycardia
HP:0001657	Prolonged QT interval
HP:0001663	Ventricular fibrillation
HP:0001722	High-output congestive heart failure
HP:0001824	Weight loss
HP:0001919	Acute kidney injury
HP:0001942	Metabolic acidosis
HP:0001945	Fever
HP:0001962	Palpitations
HP:0002019	Constipation
HP:0002047	Malignant hyperthermia
HP:0002153	Hyperkalemia
HP:0002203	Respiratory paralysis
HP:0002445	Tetraplegia
HP:0002486	Myotonia
HP:0002650	Scoliosis
HP:0002789	Tachypnea
HP:0002900	Hypokalemia
HP:0002905	Hyperphosphatemia
HP:0002913	Myoglobinuria
HP:0002917	Hypomagnesemia
HP:0003011	Abnormality of the musculature
HP:0003134	Abnormality of peripheral nerve conduction
HP:0003198	Myopathy
HP:0003201	Rhabdomyolysis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003256	Abnormality of the coagulation cascade
HP:0003327	Axial muscle weakness
HP:0003394	Muscle spasm
HP:0003457	EMG abnormality
HP:0003470	Paralysis
HP:0003552	Muscle stiffness
HP:0003557	Increased variability in muscle fiber diameter
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003694	Late-onset proximal muscle weakness
HP:0003745	Sporadic
HP:0003752	Episodic flaccid weakness
HP:0003768	Periodic paralysis
HP:0003829	Typified by incomplete penetrance
HP:0004303	Abnormal muscle fiber morphology
HP:0004755	Supraventricular tachycardia
HP:0004756	Ventricular tachycardia
HP:0005165	Shortened PR interval
HP:0006554	Acute hepatic failure
HP:0006670	Impaired myocardial contractility
HP:0006682	Premature ventricular contraction
HP:0007340	Lower limb muscle weakness
HP:0008153	Periodic hypokalemic paresis
HP:0008180	Mildly elevated creatine kinase
HP:0008256	Adrenocortical adenoma
HP:0008285	Transient hypophosphatemia
HP:0008331	Elevated creatine kinase after exercise
HP:0008942	Acute rhabdomyolysis
HP:0008978	Necrotizing myopathy
HP:0009020	Exercise-induced muscle fatigue
HP:0009045	Exercise-induced rhabdomyolysis
HP:0011463	Childhood onset
HP:0011706	Second degree atrioventricular block
HP:0011784	Thyrotoxicosis with diffuse goiter
HP:0011785	Thyrotoxicosis with toxic multinodular goiter
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
HP:0011964	Intermittent painful muscle spasms
HP:0011968	Feeding difficulties
HP:0011998	Postprandial hyperglycemia
HP:0012240	Increased intramyocellular lipid droplets
HP:0012364	Decreased urinary potassium
HP:0012416	Hypercapnia
HP:0012548	Fatty replacement of skeletal muscle
HP:0012726	Episodic hypokalemia
HP:0030196	Fatigable weakness of respiratory muscles
HP:0030674	Antenatal onset
HP:0031320	Cardiomyocyte mitochondrial proliferation
HP:0100297	Increased endomysial connective tissue
HP:0100647	Graves disease
HP:3000005	Abnormality of masseter muscle

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
skeletal muscle	myocytes	High	Enhanced
testis	preleptotene spermatocytes	Medium	Enhanced
testis	spermatogonia cells	Medium	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
rhabdomyolysis	MONDO:0005290	M62	chapter13, Diseases of the musculoskeletal system and connective tissue
thyrotoxic periodic paralysis, susceptibility to, 1	MONDO:0008570	G72	chapter6, Diseases of the nervous system	OMIM:188580
malignant hyperthermia, susceptibility to, 5	MONDO:0011163	T88	chapter19, Injury, poisoning and certain other consequences of external causes	OMIM:601887
periodic paralysis with transient compartment-like syndrome	MONDO:0018344	G72	chapter6, Diseases of the nervous system		Orphanet:397755
hypokalemic periodic paralysis, type 1	MONDO:0042979	G72	chapter6, Diseases of the nervous system	OMIM:170400

Summary of Q13698

Gene: CACNA1S, CACH1, CACN1, CACNL1A3
Protein: Voltage-dependent L-type calcium channel subunit alpha-1S

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q13698

Gene: CACNA1S, CACH1, CACN1, CACNL1A3 Protein: Voltage-dependent L-type calcium channel subunit alpha-1S

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: CACNA1S, CACH1, CACN1, CACNL1A3
Protein: Voltage-dependent L-type calcium channel subunit alpha-1S