| 2280 | Cav1 | caveolin 1 | ENCODES a protein that exhibits kinase binding; nitric-oxide synthase binding; receptor serine/threonine kinase binding; INVOLVED IN animal organ regeneration; cellular response to hypoxia; cellular response to mechanical stimulus; PARTICIPATES IN transforming growth factor-beta signaling pathway; i nsulin signaling pathway; platelet-derived growth factor signaling pathway; ASSOCIATED WITH Acute Lung Injury; alcohol-associated liver disease; atherosclerosis; FOUND IN basal plasma membrane; caveola; cell surface; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-ethoxyethanol | 4 | 46606538 | 46639616 | Rat | 842 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 619568 | CAV1 | caveolin 1 | The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] | 7 | 116525009 | 116561185 | Human | 957 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1553438 | Cav1 | caveolin 1, caveolae protein | Enables several functions, including enzyme binding activity; oxysterol binding activity; and protein heterodimerization activity. Involved in several processes, including negative regulation of programmed cell death; regulation of heart contraction; and regulation of macromolecule metabolic process . Acts upstream of with a negative effect on lactation. Acts upstream of or within several processes, including blood vessel diameter maintenance; blood vessel morphogenesis; and negative regulation of signal transduction. Located in several cellular components, including acrosomal membrane; caveola; and perinuclear region of cytoplasm. Part of caveolar macromolecular signaling complex. Colocalizes with focal adhesion. Is expressed in several structures, including cardiovascular system; cerebral cortex; lung; paraxial mesenchyme; and tooth. Used to study Alzheimer's disease; breast cancer; and hypertrophic cardiomyopathy. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); lipodystrophy (multiple); primary open angle glaucoma; primary pulmonary hypertension; and systemic scleroderma (multiple). Orthologous to human CAV1 (caveolin 1). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 17306387 | 17341323 | Mouse | 1090 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9046719 | Cav1 | caveolin 1 | ENCODES a protein that exhibits ATPase binding (ortholog); enzyme binding (ortholog); identical protein binding (ortholog); INVOLVED IN angiogenesis (ortholog); angiotensin-activated signaling pathway (ortholog); animal organ regeneration (ortholog); PARTICIPATES IN insulin signaling pathway; platel et-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN acrosomal membrane (ortholog); apical plasma membrane (ortholog); basal plasma membrane (ortholog) | NW_004955432 | 22258262 | 22292403 | Chinchilla | 385 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11965308 | CAV1 | caveolin 1 | ENCODES a protein that exhibits kinase binding (ortholog); nitric-oxide synthase binding (ortholog); nitric-oxide synthase inhibitor activity (ortholog); INVOLVED IN angiogenesis (ortholog); animal organ regeneration (ortholog); basement membrane organization (ortholog); PARTICIPATES IN insulin sign aling pathway; platelet-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN apical plasma membrane (ortholog); basal plasma membrane (ortholog); basolateral plasma membrane (ortholog) | 7 | 108497125 | 108533090 | Bonobo | 372 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12250353 | CAV1 | caveolin 1 | ENCODES a protein that exhibits kinase binding (ortholog); nitric-oxide synthase binding (ortholog); nitric-oxide synthase inhibitor activity (ortholog); INVOLVED IN caveola assembly; protein localization to basolateral plasma membrane; protein localization to plasma membrane raft; PARTICIPATES IN i nsulin signaling pathway; platelet-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN caveola; exocytic vesicle; apical plasma membrane (ortholog); INTERACTS WITH bisphenol A; mocetinostat | 14 | 55458934 | 55494563 | Dog | 324 | symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12588602 | Cav1 | caveolin 1 | ENCODES a protein that exhibits kinase binding (ortholog); nitric-oxide synthase binding (ortholog); nitric-oxide synthase inhibitor activity (ortholog); INVOLVED IN angiogenesis (ortholog); animal organ regeneration (ortholog); basement membrane organization (ortholog); PARTICIPATES IN insulin sign aling pathway; platelet-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN apical plasma membrane (ortholog); basal plasma membrane (ortholog); basolateral plasma membrane (ortholog) | NW_004936589 | 2504235 | 2536778 | Squirrel | 372 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13875882 | CAV1 | caveolin 1 | ENCODES a protein that exhibits kinase binding (ortholog); nitric-oxide synthase binding (ortholog); nitric-oxide synthase inhibitor activity (ortholog); INVOLVED IN angiogenesis (ortholog); animal organ regeneration (ortholog); basement membrane organization (ortholog); PARTICIPATES IN insulin sign aling pathway; platelet-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN caveola; plasma membrane; apical plasma membrane (ortholog); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; 3,3',4,4'-tetrachlorobiphenyl; quercetin | | | | Pig | 387 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 18638604 | CAV1 | caveolin 1 | ENCODES a protein that exhibits kinase binding (ortholog); nitric-oxide synthase binding (ortholog); nitric-oxide synthase inhibitor activity (ortholog); INVOLVED IN angiogenesis (ortholog); animal organ regeneration (ortholog); basement membrane organization (ortholog); PARTICIPATES IN insulin sign aling pathway; platelet-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN apical plasma membrane (ortholog); basal plasma membrane (ortholog); basolateral plasma membrane (ortholog) | | | | Green Monkey | 372 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18902136 | Cav1 | caveolin 1 | ENCODES a protein that exhibits ATPase binding (ortholog); enzyme binding (ortholog); identical protein binding (ortholog); INVOLVED IN angiogenesis (ortholog); angiotensin-activated signaling pathway (ortholog); animal organ regeneration (ortholog); PARTICIPATES IN insulin signaling pathway; platel et-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN acrosomal membrane (ortholog); apical plasma membrane (ortholog); basal plasma membrane (ortholog) | | | | Naked Mole-Rat | 369 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155247694 | cav1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625944759 | Cav1 | caveolin 1 | ENCODES a protein that exhibits ATPase binding (ortholog); enzyme binding (ortholog); identical protein binding (ortholog); INVOLVED IN angiogenesis (ortholog); angiotensin-activated signaling pathway (ortholog); animal organ regeneration (ortholog); PARTICIPATES IN insulin signaling pathway; platel et-derived growth factor signaling pathway; reverse cholesterol transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acoustic neuroma (ortholog); Acute Lung Injury (ortholog); FOUND IN acrosomal membrane (ortholog); apical plasma membrane (ortholog); basal plasma membrane (ortholog) | | | | Black Rat | 385 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155252799 | cav1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155243928 | cav1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1550302 | Cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | Enables enzyme binding activity and voltage-gated calcium channel activity involved in cardiac muscle cell action potential. Involved in positive regulation of adenylate cyclase activity. Acts upstream of or within several processes, including adult walking behavior; regulation of blood circulation; and secretion by cell. Located in several cellular components, including T-tubule; Z disc; and dendritic shaft. Part of caveolar macromolecular signaling complex and voltage-gated calcium channel complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and heart. Used to study Timothy syndrome. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 118564201 | 119174345 | Mouse | 632 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 731993 | Cacna1f | calcium channel, voltage-dependent, alpha 1F subunit | Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including intracellular calcium ion homeostasis; neuron projection morphogenesis; and visual perception. Predicted to be located in membrane; perikaryon; and photoreceptor outer segment. Predicted to be par t of voltage-gated calcium channel complex. Is expressed in cerebellum and hippocampus. Used to study congenital stationary night blindness 2A. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F). [provided by Alliance of Genome Resources, Jul 2025] | X | 7473342 | 7501435 | Mouse | 192 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 733918 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alim entary system; central nervous system; eye; genitourinary system; and hindlimb musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 135980549 | 136047268 | Mouse | 312 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 10268 | CACNA1C | calcium voltage-gated channel subunit alpha1 C | This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium c hannel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] | 12 | 1970780 | 2697950 | Human | 2796 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 735457 | CACNA1D | calcium voltage-gated channel subunit alpha1 D | Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed o f alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] | 3 | 53494611 | 53813733 | Human | 378 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 735458 | Cacna1d | calcium channel, voltage-dependent, L type, alpha 1D subunit | This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart de fects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014] | 14 | 29761898 | 30213113 | Mouse | 383 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 731992 | CACNA1F | calcium voltage-gated channel subunit alpha1 F | This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Muta tions in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013] | X | 49205063 | 49233340 | Human | 354 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736857 | CACNA1S | calcium voltage-gated channel subunit alpha1 S | This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] | 1 | 201039512 | 201112426 | Human | 621 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 9006776 | Rap1gap2 | RAP1 GTPase activating protein 2 | ENCODES a protein that exhibits GTPase activator activity (ortholog); INVOLVED IN negative regulation of neuron projection development (ortholog); regulation of cell size (ortholog); FOUND IN centrosome (ortholog); cytoplasm (ortholog); cytosol (ortholog) | NW_004955481 | 296411 | 537490 | Chinchilla | 13 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 70973 | Cacna1d | calcium voltage-gated channel subunit alpha1 D | ENCODES a protein that exhibits ankyrin binding; PDZ domain binding; voltage-gated calcium channel activity; INVOLVED IN calcium ion import; calcium ion transport; calcium-mediated signaling; PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; Alzheimer's disease p athway; ASSOCIATED WITH Alcohol Withdrawal Seizures; Drug-Induced Dyskinesia; Fetal Growth Retardation; FOUND IN apical plasma membrane; cell surface; dendrite membrane; INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 17beta-estradiol | 16 | 5233682 | 5527549 | Rat | 299 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 12109004 | CACNA1C | calcium voltage-gated channel subunit alpha1 C | ENCODES a protein that exhibits alpha-actinin binding (ortholog); enzyme binding (ortholog); high voltage-gated calcium channel activity (ortholog); INVOLVED IN adult walking behavior (ortholog); axon development (ortholog); calcium ion import (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH acute stress disorder (ortholog); alcohol dependence (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); axon cytoplasm (ortholog); basal pole of outer hair cell (ortholog) | 27 | 44007363 | 44748251 | Dog | 268 | old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 2245 | Cacna1c | calcium voltage-gated channel subunit alpha1 C | ENCODES a protein that exhibits high voltage-gated calcium channel activity; protein domain specific binding; protein phosphatase 2A binding; INVOLVED IN axon development; calcium ion import; calcium ion transmembrane transport via high voltage-gated calcium channel; PARTICIPATES IN acebutolol pharm acodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH abnormal social play behavior; abnormal vocalization; cognitive inflexibility; ASSOCIATED WITH alcohol dependence; Fetal Growth Retardation; acute stress disorder (ortholog); FOUND IN axon; cell surface; dendrite; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 2,4,6-trinitrobenzenesulfonic acid | 4 | 153431169 | 154051932 | Rat | 521 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 70983 | Cacna1s | calcium voltage-gated channel subunit alpha1 S | ENCODES a protein that exhibits high voltage-gated calcium channel activity; voltage-gated calcium channel activity; molecular function activator activity (ortholog); INVOLVED IN calcium ion transport; response to caloric restriction; cellular response to caffeine (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; Alzheimer's disease pathway; ASSOCIATED WITH nephrotoxicity; Sepsis; cataract (ortholog); FOUND IN dendritic spine head; sarcolemma; voltage-gated calcium channel complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil | 13 | 50045668 | 50115903 | Rat | 198 | old_gene_name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1343513 | CAMP | cathelicidin antimicrobial peptide | This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The protein plays an important role in innate immunity defense against viruses. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2021] | 3 | 48223495 | 48225485 | Human | 209 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1320469 | CHODL | chondrolectin | This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] | 21 | 17917340 | 18267370 | Human | 82 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 737096 | TNFSF15 | TNF superfamily member 15 | The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] | 9 | 114784635 | 114806039 | Human | 168 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1343117 | CAV2 | caveolin 2 | The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] | 7 | 116499738 | 116508541 | Human | 273 | description | gene, protein-coding, REVIEWED [RefSeq] |
