P00995 · ISK1_HUMAN
- ProteinSerine protease inhibitor Kazal-type 1
- GeneSPINK1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173).
In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity).
In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity).
In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 41-42 | Reactive bond for trypsin | ||||
Sequence: KI | ||||||
Site | 43-44 | Necessary for sperm binding | ||||
Sequence: YD |
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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Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSerine protease inhibitor Kazal-type 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP00995
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Pancreatitis, hereditary (PCTT)
- Note
- DescriptionA disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.
- See alsoMIM:167800
Natural variants in PCTT
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_032011 | 12 | L>F | in PCTT; benign; dbSNP:rs35877720 | |
VAR_011688 | 14 | L>P | in PCTT; dbSNP:rs104893939 | |
VAR_011689 | 34 | N>S | in PCTT and TCP; associated with disease susceptibility; risk factor also for acute pancreatitis; may confer susceptibility to fibrocalculous pancreatic diabetes; dbSNP:rs17107315 |
Tropical calcific pancreatitis (TCP)
- Note
- DescriptionIdiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer.
- See alsoMIM:608189
Natural variants in TCP
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_011689 | 34 | N>S | in PCTT and TCP; associated with disease susceptibility; risk factor also for acute pancreatitis; may confer susceptibility to fibrocalculous pancreatic diabetes; dbSNP:rs17107315 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_032011 | 12 | in PCTT; benign; dbSNP:rs35877720 | |||
Sequence: L → F | ||||||
Natural variant | VAR_011688 | 14 | in PCTT; dbSNP:rs104893939 | |||
Sequence: L → P | ||||||
Natural variant | VAR_011689 | 34 | in PCTT and TCP; associated with disease susceptibility; risk factor also for acute pancreatitis; may confer susceptibility to fibrocalculous pancreatic diabetes; dbSNP:rs17107315 | |||
Sequence: N → S | ||||||
Natural variant | VAR_011690 | 55 | in dbSNP:rs111966833 | |||
Sequence: P → S | ||||||
Natural variant | VAR_032012 | 67 | in dbSNP:rs35523678 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 111 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-23 | |||||
Sequence: MKVTGIFLLSALALLSLSGNTGA | ||||||
Chain | PRO_0000016557 | 24-79 | Serine protease inhibitor Kazal-type 1 | |||
Sequence: DSLGREAKCYNELNGCTKIYDPVCGTDGNTYPNECVLCFENRKRQTSILIQKSGPC | ||||||
Disulfide bond | 32↔61 | |||||
Sequence: CYNELNGCTKIYDPVCGTDGNTYPNECVLC | ||||||
Disulfide bond | 39↔58 | |||||
Sequence: CTKIYDPVCGTDGNTYPNEC | ||||||
Disulfide bond | 47↔79 | |||||
Sequence: CGTDGNTYPNECVLCFENRKRQTSILIQKSGPC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P00995 | ASPH Q12797-6 | 3 | EBI-8054204, EBI-12092171 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 26-79 | Kazal-like | ||||
Sequence: LGREAKCYNELNGCTKIYDPVCGTDGNTYPNECVLCFENRKRQTSILIQKSGPC |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length79
- Mass (Da)8,507
- Last updated1989-07-01 v2
- Checksum3583C8196952EB3A
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
D6RIU5 | D6RIU5_HUMAN | SPINK1 | 65 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 44 | in Ref. 6; AA sequence and 7; AA sequence | ||||
Sequence: D → N | ||||||
Sequence conflict | 52 | in Ref. 6; AA sequence | ||||
Sequence: N → D | ||||||
Sequence conflict | 64 | in Ref. 3; CAA68697 | ||||
Sequence: N → G |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M20530 EMBL· GenBank· DDBJ | AAA36522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M22971 EMBL· GenBank· DDBJ | AAA36522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20528 EMBL· GenBank· DDBJ | AAA36522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M20529 EMBL· GenBank· DDBJ | AAA36522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y00705 EMBL· GenBank· DDBJ | CAA68697.1 EMBL· GenBank· DDBJ | mRNA | ||
M11949 EMBL· GenBank· DDBJ | AAA36521.1 EMBL· GenBank· DDBJ | mRNA | ||
AF286028 EMBL· GenBank· DDBJ | AAG00531.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC025790 EMBL· GenBank· DDBJ | AAH25790.1 EMBL· GenBank· DDBJ | mRNA |