P08246 · ELNE_HUMAN
- ProteinNeutrophil elastase
- GeneELANE
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids267 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022).
Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106).
Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).
Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106).
Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).
Catalytic activity
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 70 | Charge relay system | ||||
Sequence: H | ||||||
Active site | 117 | Charge relay system | ||||
Sequence: D | ||||||
Active site | 202 | 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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameNeutrophil elastase
- 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 accessionP08246
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localized in phagolysosomes following ingestion of E.coli by neutrophils.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Cyclic haematopoiesis (CH)
- Note
- DescriptionAutosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.
- See alsoMIM:162800
Natural variants in CH
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_070697 | 43 | F>L | in SCN1 and CH | |
VAR_070700 | 45 | V>L | in CH | |
VAR_070702 | 46 | S>F | in CH and SCN1; dbSNP:rs878855320 | |
VAR_070707 | 53 | H>Q | in CH | |
VAR_070715 | 61 | A>V | in SCN1 and CH; dbSNP:rs137854447 | |
VAR_070723 | 81 | R>P | in SCN1 and CH | |
VAR_070724 | 82 | V>M | in SCN1 and CH | |
VAR_070727 | 97 | Q>L | in CH | |
VAR_070731 | 104 | I>N | in CH | |
VAR_070733 | 120 | I>F | in SCN1 and CH; dbSNP:rs1131691520 | |
VAR_038619 | 126 | S>L | in SCN1 and CH; dbSNP:rs137854450 | |
VAR_038620 | 139 | P>L | in SCN1 and CH; dbSNP:rs137854448 | |
VAR_070746 | 143 | R>H | in CH; uncertain significance; dbSNP:rs200993994 | |
VAR_038622 | 190-199 | missing | in SCN1 and CH | |
VAR_070755 | 203 | G>C | in SCN1 and CH | |
VAR_070757 | 206 | L>F | in CH; dbSNP:rs137854446 | |
VAR_070760 | 209 | N>I | in CH | |
VAR_070761 | 210 | G>W | in CH | |
VAR_070763 | 220 | R>Q | in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445 |
Neutropenia, severe congenital 1, autosomal dominant (SCN1)
- Note
- DescriptionA disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
- See alsoMIM:202700
Natural variants in SCN1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_064512 | 25 | A>V | in SCN1; dbSNP:rs1396230082 | |
VAR_070696 | 42 | P>L | in SCN1 | |
VAR_070697 | 43 | F>L | in SCN1 and CH | |
VAR_070698 | 44 | M>R | in SCN1 | |
VAR_070699 | 45 | V>E | in SCN1 | |
VAR_070701 | 46 | S>C | in SCN1 | |
VAR_070702 | 46 | S>F | in CH and SCN1; dbSNP:rs878855320 | |
VAR_070703 | 47 | L>P | in SCN1; dbSNP:rs878855319 | |
VAR_070704 | 47 | L>R | in SCN1 | |
VAR_070705 | 49 | L>P | in SCN1 | |
VAR_070706 | 53 | H>L | in SCN1 | |
VAR_070708 | 53 | H>Y | in SCN1; dbSNP:rs1131691882 | |
VAR_070709 | 55 | C>S | in SCN1 | |
VAR_038609 | 55 | C>Y | in SCN1 | |
VAR_070710 | 56 | G>R | in SCN1 | |
VAR_070711 | 57 | A>S | in SCN1 | |
VAR_038610 | 57 | A>T | in SCN1 | |
VAR_070712 | 57 | A>V | in SCN1; dbSNP:rs1057520110 | |
VAR_070713 | 59 | L>P | in SCN1 | |
VAR_038611 | 60 | I>T | in SCN1 | |
VAR_070715 | 61 | A>V | in SCN1 and CH; dbSNP:rs137854447 | |
VAR_070716 | 65 | missing | in SCN1 | |
VAR_070717 | 66-70 | missing | in SCN1 | |
VAR_070718 | 67 | S>W | in SCN1 | |
VAR_070719 | 71 | C>F | in SCN1; dbSNP:rs878855315 | |
VAR_038612 | 71 | C>R | in SCN1; dbSNP:rs28931611 | |
VAR_038613 | 71 | C>S | in SCN1 | |
VAR_070720 | 71 | C>Y | in SCN1 | |
VAR_070721 | 72 | V>G | in SCN1 | |
VAR_070722 | 80 | V>G | in SCN1 | |
VAR_070723 | 81 | R>P | in SCN1 and CH | |
VAR_070724 | 82 | V>M | in SCN1 and CH | |
VAR_070725 | 84 | L>P | in SCN1; dbSNP:rs1064793108 | |
VAR_038614 | 85 | G>E | in SCN1 | |
VAR_070726 | 85 | G>R | in SCN1 | |
VAR_038615 | 98 | V>L | in SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs267606781 | |
VAR_070728 | 98 | V>M | in SCN1; dbSNP:rs267606781 | |
VAR_038616 | 101 | V>L | in SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs137854449 | |
VAR_038617 | 101 | V>M | in SCN1; dbSNP:rs137854449 | |
VAR_070729 | 103 | R>L | in SCN1; dbSNP:rs745455816 | |
VAR_070730 | 103 | R>P | in SCN1 | |
VAR_070733 | 120 | I>F | in SCN1 and CH; dbSNP:rs1131691520 | |
VAR_070734 | 120 | I>N | in SCN1 | |
VAR_070735 | 120 | I>S | in SCN1 | |
VAR_070736 | 121 | L>P | in SCN1 | |
VAR_070737 | 123 | L>H | in SCN1 | |
VAR_038618 | 123 | L>PQL | in SCN1 | |
VAR_070738 | 124 | N>I | in SCN1 | |
VAR_038619 | 126 | S>L | in SCN1 and CH; dbSNP:rs137854450 | |
VAR_070740 | 127 | A>D | in SCN1 | |
VAR_070741 | 127 | A>P | in SCN1 | |
VAR_070742 | 131 | A>T | in SCN1; uncertain significance; dbSNP:rs201729066 | |
VAR_070744 | 136 | A>D | in SCN1 | |
VAR_038620 | 139 | P>L | in SCN1 and CH; dbSNP:rs137854448 | |
VAR_070745 | 139 | P>R | in SCN1 | |
VAR_070747 | 151 | C>F | in SCN1; dbSNP:rs57246956 | |
VAR_038621 | 151 | C>S | in SCN1 | |
VAR_070748 | 151 | C>W | in SCN1 | |
VAR_070749 | 151 | C>Y | in SCN1; uncertain significance; dbSNP:rs57246956 | |
VAR_070750 | 152 | L>P | in SCN1 | |
VAR_070751 | 153 | A>D | in SCN1 | |
VAR_070752 | 153 | A>P | in SCN1 | |
VAR_070753 | 156 | W>C | in SCN1 | |
VAR_070754 | 156 | W>R | in SCN1 | |
VAR_064513 | 166 | A>T | in SCN1; the patient also carries mutation Lys-116 in G6PC3; dbSNP:rs201788817 | |
VAR_038622 | 190-199 | missing | in SCN1 and CH | |
VAR_070755 | 203 | G>C | in SCN1 and CH | |
VAR_070756 | 203 | G>R | in SCN1; dbSNP:rs201139487 | |
VAR_038623 | 205 | P>R | in SCN1; dbSNP:rs1555710077 | |
VAR_070758 | 206 | L>S | in SCN1 | |
VAR_070759 | 208 | C>G | in SCN1 | |
VAR_038624 | 210 | G>V | in SCN1 | |
VAR_070762 | 214 | G>E | in SCN1 | |
VAR_038625 | 214 | G>R | in SCN1; dbSNP:rs137854451 | |
VAR_070763 | 220 | R>Q | in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445 | |
VAR_070764 | 233 | A>P | in SCN1 | |
VAR_070765 | 235 | V>E | in SCN1 | |
VAR_070766 | 235 | V>G | in SCN1 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_064512 | 25 | in SCN1; dbSNP:rs1396230082 | |||
Sequence: A → V | ||||||
Natural variant | VAR_070696 | 42 | in SCN1 | |||
Sequence: P → L | ||||||
Natural variant | VAR_070697 | 43 | in SCN1 and CH | |||
Sequence: F → L | ||||||
Natural variant | VAR_070698 | 44 | in SCN1 | |||
Sequence: M → R | ||||||
Natural variant | VAR_070699 | 45 | in SCN1 | |||
Sequence: V → E | ||||||
Natural variant | VAR_070700 | 45 | in CH | |||
Sequence: V → L | ||||||
Natural variant | VAR_070701 | 46 | in SCN1 | |||
Sequence: S → C | ||||||
Natural variant | VAR_070702 | 46 | in CH and SCN1; dbSNP:rs878855320 | |||
Sequence: S → F | ||||||
Natural variant | VAR_070703 | 47 | in SCN1; dbSNP:rs878855319 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070704 | 47 | in SCN1 | |||
Sequence: L → R | ||||||
Natural variant | VAR_070705 | 49 | in SCN1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070706 | 53 | in SCN1 | |||
Sequence: H → L | ||||||
Natural variant | VAR_070707 | 53 | in CH | |||
Sequence: H → Q | ||||||
Natural variant | VAR_070708 | 53 | in SCN1; dbSNP:rs1131691882 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_070709 | 55 | in SCN1 | |||
Sequence: C → S | ||||||
Natural variant | VAR_038609 | 55 | in SCN1 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_070710 | 56 | in SCN1 | |||
Sequence: G → R | ||||||
Natural variant | VAR_070711 | 57 | in SCN1 | |||
Sequence: A → S | ||||||
Natural variant | VAR_038610 | 57 | in SCN1 | |||
Sequence: A → T | ||||||
Natural variant | VAR_070712 | 57 | in SCN1; dbSNP:rs1057520110 | |||
Sequence: A → V | ||||||
Natural variant | VAR_070713 | 59 | in SCN1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_038611 | 60 | in SCN1 | |||
Sequence: I → T | ||||||
Natural variant | VAR_070714 | 60-61 | ||||
Sequence: IA → R | ||||||
Natural variant | VAR_070715 | 61 | in SCN1 and CH; dbSNP:rs137854447 | |||
Sequence: A → V | ||||||
Natural variant | VAR_070716 | 65 | in SCN1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_070717 | 66-70 | in SCN1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_070718 | 67 | in SCN1 | |||
Sequence: S → W | ||||||
Natural variant | VAR_070719 | 71 | in SCN1; dbSNP:rs878855315 | |||
Sequence: C → F | ||||||
Natural variant | VAR_038612 | 71 | in SCN1; dbSNP:rs28931611 | |||
Sequence: C → R | ||||||
Natural variant | VAR_038613 | 71 | in SCN1 | |||
Sequence: C → S | ||||||
Natural variant | VAR_070720 | 71 | in SCN1 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_070721 | 72 | in SCN1 | |||
Sequence: V → G | ||||||
Natural variant | VAR_070722 | 80 | in SCN1 | |||
Sequence: V → G | ||||||
Natural variant | VAR_070723 | 81 | in SCN1 and CH | |||
Sequence: R → P | ||||||
Natural variant | VAR_070724 | 82 | in SCN1 and CH | |||
Sequence: V → M | ||||||
Natural variant | VAR_070725 | 84 | in SCN1; dbSNP:rs1064793108 | |||
Sequence: L → P | ||||||
Natural variant | VAR_038614 | 85 | in SCN1 | |||
Sequence: G → E | ||||||
Natural variant | VAR_070726 | 85 | in SCN1 | |||
Sequence: G → R | ||||||
Natural variant | VAR_070727 | 97 | in CH | |||
Sequence: Q → L | ||||||
Natural variant | VAR_038615 | 98 | in SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs267606781 | |||
Sequence: V → L | ||||||
Natural variant | VAR_070728 | 98 | in SCN1; dbSNP:rs267606781 | |||
Sequence: V → M | ||||||
Natural variant | VAR_038616 | 101 | in SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs137854449 | |||
Sequence: V → L | ||||||
Natural variant | VAR_038617 | 101 | in SCN1; dbSNP:rs137854449 | |||
Sequence: V → M | ||||||
Natural variant | VAR_070729 | 103 | in SCN1; dbSNP:rs745455816 | |||
Sequence: R → L | ||||||
Natural variant | VAR_070730 | 103 | in SCN1 | |||
Sequence: R → P | ||||||
Natural variant | VAR_070731 | 104 | in CH | |||
Sequence: I → N | ||||||
Natural variant | VAR_070732 | 118 | in dbSNP:rs1382122842 | |||
Sequence: I → V | ||||||
Natural variant | VAR_070733 | 120 | in SCN1 and CH; dbSNP:rs1131691520 | |||
Sequence: I → F | ||||||
Natural variant | VAR_070734 | 120 | in SCN1 | |||
Sequence: I → N | ||||||
Natural variant | VAR_070735 | 120 | in SCN1 | |||
Sequence: I → S | ||||||
Natural variant | VAR_070736 | 121 | in SCN1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070737 | 123 | in SCN1 | |||
Sequence: L → H | ||||||
Natural variant | VAR_038618 | 123 | in SCN1 | |||
Sequence: L → PQL | ||||||
Natural variant | VAR_070738 | 124 | in SCN1 | |||
Sequence: N → I | ||||||
Natural variant | VAR_070739 | 125 | in dbSNP:rs377698556 | |||
Sequence: G → R | ||||||
Natural variant | VAR_038619 | 126 | in SCN1 and CH; dbSNP:rs137854450 | |||
Sequence: S → L | ||||||
Natural variant | VAR_070740 | 127 | in SCN1 | |||
Sequence: A → D | ||||||
Natural variant | VAR_070741 | 127 | in SCN1 | |||
Sequence: A → P | ||||||
Natural variant | VAR_070742 | 131 | in SCN1; uncertain significance; dbSNP:rs201729066 | |||
Sequence: A → T | ||||||
Natural variant | VAR_070743 | 135 | in dbSNP:rs774457980 | |||
Sequence: V → M | ||||||
Natural variant | VAR_070744 | 136 | in SCN1 | |||
Sequence: A → D | ||||||
Natural variant | VAR_038620 | 139 | in SCN1 and CH; dbSNP:rs137854448 | |||
Sequence: P → L | ||||||
Natural variant | VAR_070745 | 139 | in SCN1 | |||
Sequence: P → R | ||||||
Natural variant | VAR_070746 | 143 | in CH; uncertain significance; dbSNP:rs200993994 | |||
Sequence: R → H | ||||||
Natural variant | VAR_070747 | 151 | in SCN1; dbSNP:rs57246956 | |||
Sequence: C → F | ||||||
Natural variant | VAR_038621 | 151 | in SCN1 | |||
Sequence: C → S | ||||||
Natural variant | VAR_070748 | 151 | in SCN1 | |||
Sequence: C → W | ||||||
Natural variant | VAR_070749 | 151 | in SCN1; uncertain significance; dbSNP:rs57246956 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_070750 | 152 | in SCN1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070751 | 153 | in SCN1 | |||
Sequence: A → D | ||||||
Natural variant | VAR_070752 | 153 | in SCN1 | |||
Sequence: A → P | ||||||
Natural variant | VAR_070753 | 156 | in SCN1 | |||
Sequence: W → C | ||||||
Natural variant | VAR_070754 | 156 | in SCN1 | |||
Sequence: W → R | ||||||
Natural variant | VAR_064513 | 166 | in SCN1; the patient also carries mutation Lys-116 in G6PC3; dbSNP:rs201788817 | |||
Sequence: A → T | ||||||
Natural variant | VAR_038622 | 190-199 | in SCN1 and CH | |||
Sequence: Missing | ||||||
Natural variant | VAR_070755 | 203 | in SCN1 and CH | |||
Sequence: G → C | ||||||
Natural variant | VAR_070756 | 203 | in SCN1; dbSNP:rs201139487 | |||
Sequence: G → R | ||||||
Natural variant | VAR_038623 | 205 | in SCN1; dbSNP:rs1555710077 | |||
Sequence: P → R | ||||||
Natural variant | VAR_070757 | 206 | in CH; dbSNP:rs137854446 | |||
Sequence: L → F | ||||||
Natural variant | VAR_070758 | 206 | in SCN1 | |||
Sequence: L → S | ||||||
Natural variant | VAR_070759 | 208 | in SCN1 | |||
Sequence: C → G | ||||||
Natural variant | VAR_070760 | 209 | in CH | |||
Sequence: N → I | ||||||
Natural variant | VAR_038624 | 210 | in SCN1 | |||
Sequence: G → V | ||||||
Natural variant | VAR_070761 | 210 | in CH | |||
Sequence: G → W | ||||||
Natural variant | VAR_070762 | 214 | in SCN1 | |||
Sequence: G → E | ||||||
Natural variant | VAR_038625 | 214 | in SCN1; dbSNP:rs137854451 | |||
Sequence: G → R | ||||||
Natural variant | VAR_019237 | 219 | in dbSNP:rs17216656 | |||
Sequence: V → I | ||||||
Natural variant | VAR_070763 | 220 | in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_070764 | 233 | in SCN1 | |||
Sequence: A → P | ||||||
Natural variant | VAR_070765 | 235 | in SCN1 | |||
Sequence: V → E | ||||||
Natural variant | VAR_070766 | 235 | in SCN1 | |||
Sequence: V → G | ||||||
Natural variant | VAR_019238 | 257 | in dbSNP:rs17216663 | |||
Sequence: P → L | ||||||
Natural variant | VAR_019239 | 262 | found in patients with severe congenital or cyclic neutropenia; dbSNP:rs17216670 | |||
Sequence: P → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 849 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, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-27 | |||||
Sequence: MTLGRRLACLFLACVLPALLLGGTALA | ||||||
Propeptide | PRO_0000027703 | 28-29 | ||||
Sequence: SE | ||||||
Chain | PRO_0000027704 | 30-267 | Neutrophil elastase | |||
Sequence: IVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH | ||||||
Disulfide bond | 55↔71 | |||||
Sequence: CGATLIAPNFVMSAAHC | ||||||
Glycosylation | 88 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 124 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 151↔208 | |||||
Sequence: CLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVC | ||||||
Glycosylation | 173 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 181↔187 | |||||
Sequence: CRRSNVC | ||||||
Disulfide bond | 198↔223 | |||||
Sequence: CFGDSGSPLVCNGLIHGIASFVRGGC |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with NOTCH2NL.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
XENO | P08246 | Col17a1 Q07563 | 2 | EBI-986345, EBI-6251005 | |
XENO | P08246 | S P0DTC2 | 2 | EBI-986345, EBI-25474821 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 30-247 | Peptidase S1 | ||||
Sequence: IVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVNWIDSIIQ |
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.
- Length267
- Mass (Da)28,518
- Last updated1988-08-01 v1
- Checksum3F7610DC33CAA4B9
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y00477 EMBL· GenBank· DDBJ | CAA68537.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20203 EMBL· GenBank· DDBJ | AAA36359.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20199 EMBL· GenBank· DDBJ | AAA36359.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20200 EMBL· GenBank· DDBJ | AAA36359.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20201 EMBL· GenBank· DDBJ | AAA36359.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M34379 EMBL· GenBank· DDBJ | AAA36173.1 EMBL· GenBank· DDBJ | mRNA | ||
AY596461 EMBL· GenBank· DDBJ | AAS89303.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC074816 EMBL· GenBank· DDBJ | AAH74816.1 EMBL· GenBank· DDBJ | mRNA | ||
BC074817 EMBL· GenBank· DDBJ | AAH74817.1 EMBL· GenBank· DDBJ | mRNA | ||
D00187 EMBL· GenBank· DDBJ | BAA00128.1 EMBL· GenBank· DDBJ | mRNA | ||
X05875 EMBL· GenBank· DDBJ | CAA29299.1 EMBL· GenBank· DDBJ | mRNA | ||
X05875 EMBL· GenBank· DDBJ | CAA29300.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
J03545 EMBL· GenBank· DDBJ | AAA52378.1 EMBL· GenBank· DDBJ | mRNA | ||
M27783 EMBL· GenBank· DDBJ | AAA35792.1 EMBL· GenBank· DDBJ | mRNA |