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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q31.2
Chromosome location (bp)
116524994 - 116561179
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May act as a scaffolding protein within caveolar membranes 1. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae 2. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner 3. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation 4....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hypertensive diseases Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000139[Golgi membrane] GO:0000165[MAPK cascade] GO:0001525[angiogenesis] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001935[endothelial cell proliferation] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001960[negative regulation of cytokine-mediated signaling pathway] GO:0002026[regulation of the force of heart contraction] GO:0002067[glandular epithelial cell differentiation] GO:0002080[acrosomal membrane] GO:0002095[caveolar macromolecular signaling complex] GO:0002931[response to ischemia] GO:0003057[regulation of the force of heart contraction by chemical signal] GO:0005102[signaling receptor binding] GO:0005113[patched binding] GO:0005515[protein binding] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005811[lipid droplet] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0005925[focal adhesion] GO:0005929[cilium] GO:0005938[cell cortex] GO:0006641[triglyceride metabolic process] GO:0006809[nitric oxide biosynthetic process] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0006940[regulation of smooth muscle contraction] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0007519[skeletal muscle tissue development] GO:0007595[lactation] GO:0008104[protein localization] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009617[response to bacterium] GO:0009968[negative regulation of signal transduction] GO:0010524[positive regulation of calcium ion transport into cytosol] GO:0010608[post-transcriptional regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0010875[positive regulation of cholesterol efflux] GO:0015031[protein transport] GO:0015485[cholesterol binding] GO:0016020[membrane] GO:0016050[vesicle organization] GO:0016323[basolateral plasma membrane] GO:0016324[apical plasma membrane] GO:0016504[peptidase activator activity] GO:0019065[receptor-mediated endocytosis of virus by host cell] GO:0019217[regulation of fatty acid metabolic process] GO:0019221[cytokine-mediated signaling pathway] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0019915[lipid storage] GO:0030154[cell differentiation] GO:0030193[regulation of blood coagulation] GO:0030301[cholesterol transport] GO:0030335[positive regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030666[endocytic vesicle membrane] GO:0030674[protein-macromolecule adaptor activity] GO:0030857[negative regulation of epithelial cell differentiation] GO:0030879[mammary gland development] GO:0031267[small GTPase binding] GO:0031295[T cell costimulation] GO:0031397[negative regulation of protein ubiquitination] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031623[receptor internalization] GO:0031901[early endosome membrane] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0032507[maintenance of protein location in cell] GO:0032570[response to progesterone] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0033484[nitric oxide homeostasis] GO:0034141[positive regulation of toll-like receptor 3 signaling pathway] GO:0038016[insulin receptor internalization] GO:0042310[vasoconstriction] GO:0042383[sarcolemma] GO:0042532[negative regulation of tyrosine phosphorylation of STAT protein] GO:0042632[cholesterol homeostasis] GO:0042802[identical protein binding] GO:0043085[positive regulation of catalytic activity] GO:0043407[negative regulation of MAP kinase activity] GO:0043409[negative regulation of MAPK cascade] GO:0043627[response to estrogen] GO:0044325[transmembrane transporter binding] GO:0044860[protein localization to plasma membrane raft] GO:0044877[protein-containing complex binding] GO:0045019[negative regulation of nitric oxide biosynthetic process] GO:0045121[membrane raft] GO:0045907[positive regulation of vasoconstriction] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0046716[muscle cell cellular homeostasis] GO:0046982[protein heterodimerization activity] GO:0048144[fibroblast proliferation] GO:0048147[negative regulation of fibroblast proliferation] GO:0048471[perinuclear region of cytoplasm] GO:0048550[negative regulation of pinocytosis] GO:0050998[nitric-oxide synthase binding] GO:0051001[negative regulation of nitric-oxide synthase activity] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051117[ATPase binding] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0051592[response to calcium ion] GO:0051649[establishment of localization in cell] GO:0051899[membrane depolarization] GO:0052547[regulation of peptidase activity] GO:0055074[calcium ion homeostasis] GO:0060056[mammary gland involution] GO:0060090[molecular adaptor activity] GO:0060355[positive regulation of cell adhesion molecule production] GO:0060546[negative regulation of necroptotic process] GO:0061099[negative regulation of protein tyrosine kinase activity] GO:0070320[inward rectifier potassium channel inhibitor activity] GO:0070836[caveola assembly] GO:0071360[cellular response to exogenous dsRNA] GO:0071375[cellular response to peptide hormone stimulus] GO:0071455[cellular response to hyperoxia] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0071711[basement membrane organization] GO:0072584[caveolin-mediated endocytosis] GO:0086091[regulation of heart rate by cardiac conduction] GO:0086098[angiotensin-activated signaling pathway involved in heart process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097190[apoptotic signaling pathway] GO:0098903[regulation of membrane repolarization during action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900027[regulation of ruffle assembly] GO:1900085[negative regulation of peptidyl-tyrosine autophosphorylation] GO:1901380[negative regulation of potassium ion transmembrane transport] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1903361[protein localization to basolateral plasma membrane] GO:1903598[positive regulation of gap junction assembly] GO:1903609[negative regulation of inward rectifier potassium channel activity] GO:2000286[receptor internalization involved in canonical Wnt signaling pathway] GO:2000535[regulation of entry of bacterium into host cell] GO:2000811[negative regulation of anoikis] GO:2001238[positive regulation of extrinsic apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hypertensive diseases Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000139[Golgi membrane] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001937[negative regulation of endothelial cell proliferation] GO:0005102[signaling receptor binding] GO:0005113[patched binding] GO:0005515[protein binding] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005811[lipid droplet] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0005925[focal adhesion] GO:0006641[triglyceride metabolic process] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0006940[regulation of smooth muscle contraction] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] GO:0009267[cellular response to starvation] GO:0009617[response to bacterium] GO:0010524[positive regulation of calcium ion transport into cytosol] GO:0010875[positive regulation of cholesterol efflux] GO:0015485[cholesterol binding] GO:0016020[membrane] GO:0016050[vesicle organization] GO:0016504[peptidase activator activity] GO:0019065[receptor-mediated endocytosis of virus by host cell] GO:0019217[regulation of fatty acid metabolic process] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0019915[lipid storage] GO:0030154[cell differentiation] GO:0030193[regulation of blood coagulation] GO:0030301[cholesterol transport] GO:0030335[positive regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0030666[endocytic vesicle membrane] GO:0030857[negative regulation of epithelial cell differentiation] GO:0030879[mammary gland development] GO:0031267[small GTPase binding] GO:0031295[T cell costimulation] GO:0031397[negative regulation of protein ubiquitination] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031623[receptor internalization] GO:0031901[early endosome membrane] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0032507[maintenance of protein location in cell] GO:0032570[response to progesterone] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0033484[nitric oxide homeostasis] GO:0034141[positive regulation of toll-like receptor 3 signaling pathway] GO:0042383[sarcolemma] GO:0042632[cholesterol homeostasis] GO:0042802[identical protein binding] GO:0043085[positive regulation of catalytic activity] GO:0043409[negative regulation of MAPK cascade] GO:0043627[response to estrogen] GO:0044325[transmembrane transporter binding] GO:0044860[protein localization to plasma membrane raft] GO:0044877[protein-containing complex binding] GO:0045019[negative regulation of nitric oxide biosynthetic process] GO:0045121[membrane raft] GO:0045907[positive regulation of vasoconstriction] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0048471[perinuclear region of cytoplasm] GO:0048550[negative regulation of pinocytosis] GO:0050998[nitric-oxide synthase binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051117[ATPase binding] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0051592[response to calcium ion] GO:0051899[membrane depolarization] GO:0052547[regulation of peptidase activity] GO:0055074[calcium ion homeostasis] GO:0060056[mammary gland involution] GO:0060090[molecular adaptor activity] GO:0060355[positive regulation of cell adhesion molecule production] GO:0061099[negative regulation of protein tyrosine kinase activity] GO:0070320[inward rectifier potassium channel inhibitor activity] GO:0070836[caveola assembly] GO:0071360[cellular response to exogenous dsRNA] GO:0071375[cellular response to peptide hormone stimulus] GO:0071455[cellular response to hyperoxia] GO:0072584[caveolin-mediated endocytosis] GO:0086091[regulation of heart rate by cardiac conduction] GO:0086098[angiotensin-activated signaling pathway involved in heart process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097190[apoptotic signaling pathway] GO:0098903[regulation of membrane repolarization during action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900027[regulation of ruffle assembly] GO:1900085[negative regulation of peptidyl-tyrosine autophosphorylation] GO:1901380[negative regulation of potassium ion transmembrane transport] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1903361[protein localization to basolateral plasma membrane] GO:1903598[positive regulation of gap junction assembly] GO:1903609[negative regulation of inward rectifier potassium channel activity] GO:2000286[receptor internalization involved in canonical Wnt signaling pathway] GO:2000535[regulation of entry of bacterium into host cell] GO:2000811[negative regulation of anoikis] GO:2001238[positive regulation of extrinsic apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hypertensive diseases Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000139[Golgi membrane] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001937[negative regulation of endothelial cell proliferation] GO:0005102[signaling receptor binding] GO:0005113[patched binding] GO:0005515[protein binding] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005811[lipid droplet] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0005925[focal adhesion] GO:0006641[triglyceride metabolic process] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0006940[regulation of smooth muscle contraction] GO:0007519[skeletal muscle tissue development] GO:0008104[protein localization] GO:0009267[cellular response to starvation] GO:0009617[response to bacterium] GO:0010524[positive regulation of calcium ion transport into cytosol] GO:0010875[positive regulation of cholesterol efflux] GO:0015485[cholesterol binding] GO:0016020[membrane] GO:0016050[vesicle organization] GO:0016504[peptidase activator activity] GO:0019065[receptor-mediated endocytosis of virus by host cell] GO:0019217[regulation of fatty acid metabolic process] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0019915[lipid storage] GO:0030154[cell differentiation] GO:0030193[regulation of blood coagulation] GO:0030301[cholesterol transport] GO:0030335[positive regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0030666[endocytic vesicle membrane] GO:0030857[negative regulation of epithelial cell differentiation] GO:0030879[mammary gland development] GO:0031267[small GTPase binding] GO:0031295[T cell costimulation] GO:0031397[negative regulation of protein ubiquitination] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031623[receptor internalization] GO:0031901[early endosome membrane] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0032507[maintenance of protein location in cell] GO:0032570[response to progesterone] GO:0032991[protein-containing complex] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0033484[nitric oxide homeostasis] GO:0034141[positive regulation of toll-like receptor 3 signaling pathway] GO:0042383[sarcolemma] GO:0042632[cholesterol homeostasis] GO:0042802[identical protein binding] GO:0043085[positive regulation of catalytic activity] GO:0043409[negative regulation of MAPK cascade] GO:0043627[response to estrogen] GO:0044325[transmembrane transporter binding] GO:0044860[protein localization to plasma membrane raft] GO:0044877[protein-containing complex binding] GO:0045019[negative regulation of nitric oxide biosynthetic process] GO:0045121[membrane raft] GO:0045907[positive regulation of vasoconstriction] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0048471[perinuclear region of cytoplasm] GO:0048550[negative regulation of pinocytosis] GO:0050998[nitric-oxide synthase binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051117[ATPase binding] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0051592[response to calcium ion] GO:0051899[membrane depolarization] GO:0052547[regulation of peptidase activity] GO:0055074[calcium ion homeostasis] GO:0060056[mammary gland involution] GO:0060090[molecular adaptor activity] GO:0060355[positive regulation of cell adhesion molecule production] GO:0061099[negative regulation of protein tyrosine kinase activity] GO:0070320[inward rectifier potassium channel inhibitor activity] GO:0070836[caveola assembly] GO:0071360[cellular response to exogenous dsRNA] GO:0071375[cellular response to peptide hormone stimulus] GO:0071455[cellular response to hyperoxia] GO:0072584[caveolin-mediated endocytosis] GO:0086091[regulation of heart rate by cardiac conduction] GO:0086098[angiotensin-activated signaling pathway involved in heart process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097190[apoptotic signaling pathway] GO:0098903[regulation of membrane repolarization during action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900027[regulation of ruffle assembly] GO:1900085[negative regulation of peptidyl-tyrosine autophosphorylation] GO:1901380[negative regulation of potassium ion transmembrane transport] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1903361[protein localization to basolateral plasma membrane] GO:1903598[positive regulation of gap junction assembly] GO:1903609[negative regulation of inward rectifier potassium channel activity] GO:2000286[receptor internalization involved in canonical Wnt signaling pathway] GO:2000535[regulation of entry of bacterium into host cell] GO:2000811[negative regulation of anoikis] GO:2001238[positive regulation of extrinsic apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hypertensive diseases Congenital disorders of metabolism Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)