P08217 · CEL2A_HUMAN
- ProteinChymotrypsin-like elastase family member 2A
- GeneCELA2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids269 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Circulates in plasma and reduces platelet hyperactivation, triggers both insulin secretion and degradation, and increases insulin sensitivity.
Catalytic activity
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 73 | Charge relay system | ||||
Sequence: H | ||||||
Active site | 121 | Charge relay system | ||||
Sequence: D | ||||||
Active site | 216 | Charge relay system | ||||
Sequence: S |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Cellular Component | keratohyalin granule | |
Molecular Function | endopeptidase activity | |
Molecular Function | serine hydrolase activity | |
Molecular Function | serine-type endopeptidase activity | |
Biological Process | insulin catabolic process | |
Biological Process | proteolysis | |
Biological Process | regulation of insulin secretion | |
Biological Process | regulation of platelet aggregation | |
Biological Process | response to insulin |
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameChymotrypsin-like elastase family member 2A
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP08217
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Abdominal obesity-metabolic syndrome 4 (AOMS4)
- Note
- DescriptionA form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes.
- See alsoMIM:618620
Natural variants in AOMS4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083326 | 70 | T>M | in AOMS4; strongly decreased elastase activity; abolishes interaction with SERPINA1; impaired insulin degradation; increased platelet aggregation; dbSNP:rs372947070 | |
VAR_083327 | 85 | L>M | in AOMS4; uncertain significance; strongly decreased elastase activity; no effect on interaction with SERPINA1; no effect on insulin degradation; increased platelet aggregation; dbSNP:rs558493952 | |
VAR_083328 | 121 | D>N | in AOMS4; strongly decreased elastase activity; abolishes interaction with SERPINA1; increased levels in plasma; impaired insulin degradation; increased platelet aggregation; dbSNP:rs1352544800 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_083326 | 70 | in AOMS4; strongly decreased elastase activity; abolishes interaction with SERPINA1; impaired insulin degradation; increased platelet aggregation; dbSNP:rs372947070 | |||
Sequence: T → M | ||||||
Natural variant | VAR_083327 | 85 | in AOMS4; uncertain significance; strongly decreased elastase activity; no effect on interaction with SERPINA1; no effect on insulin degradation; increased platelet aggregation; dbSNP:rs558493952 | |||
Sequence: L → M | ||||||
Natural variant | VAR_083328 | 121 | in AOMS4; strongly decreased elastase activity; abolishes interaction with SERPINA1; increased levels in plasma; impaired insulin degradation; increased platelet aggregation; dbSNP:rs1352544800 | |||
Sequence: D → N | ||||||
Natural variant | VAR_051837 | 257 | in dbSNP:rs2303193 | |||
Sequence: N → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 348 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, propeptide, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-16 | |||||
Sequence: MIRTLLLSTLVAGALS | ||||||
Propeptide | PRO_0000027693 | 17-28 | Activation peptide | |||
Sequence: CGDPTYPPYVTR | ||||||
Chain | PRO_0000027694 | 29-269 | Chymotrypsin-like elastase family member 2A | |||
Sequence: VVGGEEARPNSWPWQVSLQYSSNGKWYHTCGGSLIANSWVLTAAHCISSSRTYRVGLGRHNLYVAESGSLAVSVSKIVVHKDWNSNQISKGNDIALLKLANPVSLTDKIQLACLPPAGTILPNNYPCYVTGWGRLQTNGAVPDVLQQGRLLVVDYATCSSSAWWGSSVKTSMICAGGDGVISSCNGDSGGPLNCQASDGRWQVHGIVSFGSRLGCNYYHKPSVFTRVSNYIDWINSVIANN | ||||||
Disulfide bond | 58↔74 | |||||
Sequence: CGGSLIANSWVLTAAHC | ||||||
Disulfide bond | 155↔222 | |||||
Sequence: CYVTGWGRLQTNGAVPDVLQQGRLLVVDYATCSSSAWWGSSVKTSMICAGGDGVISSCNGDSGGPLNC | ||||||
Disulfide bond | 186↔202 | |||||
Sequence: CSSSAWWGSSVKTSMIC | ||||||
Disulfide bond | 212↔243 | |||||
Sequence: CNGDSGGPLNCQASDGRWQVHGIVSFGSRLGC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in pancreas. Not detected in keratinocytes (PubMed:10620133).
Detected in exocrine secretions of the pancreas (at protein level). Also expressed in a small fraction of cells in pancreatic islets, adrenal cortex, intestinal glands and colonic lymphoid follicles (at protein level) (PubMed:31358993).
Detected in plasma (PubMed:31358993).
Detected in exocrine secretions of the pancreas (at protein level). Also expressed in a small fraction of cells in pancreatic islets, adrenal cortex, intestinal glands and colonic lymphoid follicles (at protein level) (PubMed:31358993).
Detected in plasma (PubMed:31358993).
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 29-267 | Peptidase S1 | ||||
Sequence: VVGGEEARPNSWPWQVSLQYSSNGKWYHTCGGSLIANSWVLTAAHCISSSRTYRVGLGRHNLYVAESGSLAVSVSKIVVHKDWNSNQISKGNDIALLKLANPVSLTDKIQLACLPPAGTILPNNYPCYVTGWGRLQTNGAVPDVLQQGRLLVVDYATCSSSAWWGSSVKTSMICAGGDGVISSCNGDSGGPLNCQASDGRWQVHGIVSFGSRLGCNYYHKPSVFTRVSNYIDWINSVIA |
Sequence similarities
Belongs to the peptidase S1 family. Elastase subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length269
- Mass (Da)28,888
- Last updated1988-08-01 v1
- ChecksumA2E05143EFF4987C
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 202 | in Ref. 3; BAA00165 | ||||
Sequence: C → V |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M16631 EMBL· GenBank· DDBJ | AAA52374.1 EMBL· GenBank· DDBJ | mRNA | ||
M16652 EMBL· GenBank· DDBJ | AAA52380.1 EMBL· GenBank· DDBJ | mRNA | ||
D00236 EMBL· GenBank· DDBJ | BAA00165.1 EMBL· GenBank· DDBJ | mRNA | ||
AK312198 EMBL· GenBank· DDBJ | BAG35131.1 EMBL· GenBank· DDBJ | mRNA | ||
AK056678 EMBL· GenBank· DDBJ | BAG51782.1 EMBL· GenBank· DDBJ | mRNA | ||
AL512883 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471167 EMBL· GenBank· DDBJ | EAW51727.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC007031 EMBL· GenBank· DDBJ | AAH07031.1 EMBL· GenBank· DDBJ | mRNA |