ENSG00000101439


Homo sapiens

Features
Gene ID: ENSG00000101439
  
Biological name :CST3
  
Synonyms : CST3 / cystatin C / P01034
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p11.21
Gene start: 23626706
Gene end: 23638473
  
Corresponding Affymetrix probe sets: 201360_at (Human Genome U133 Plus 2.0 Array)   230343_at (Human Genome U133 Plus 2.0 Array)   237623_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366124
Ensembl peptide - ENSP00000381448
Ensembl peptide - ENSP00000381446
NCBI entrez gene - 1471     See in Manteia.
OMIM - 604312
RefSeq - NM_000099
RefSeq - NM_001288614
RefSeq Peptide - NP_000090
RefSeq Peptide - NP_001275543
swissprot - A0A0K0K1J1
swissprot - P01034
Ensembl - ENSG00000101439
  
Related genetic diseases (OMIM): 105150 - Cerebral amyloid angiopathy, 105150
  611953 - {Macular degeneration, age-related, 11}, 611953
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cst3ENSDARG00000007795Danio rerio
 zgc:163030ENSDARG00000069192Danio rerio
 CST3ENSGALG00000028520Gallus gallus
 Cst3ENSMUSG00000027447Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CST2 / P09228 / cystatin SAENSG0000017036957
CST4 / P01036 / cystatin SENSG0000010144155
CST1 / P01037 / cystatin SNENSG0000017037355
CST5 / P28325 / cystatin DENSG0000017036750
CST6 / Q15828 / cystatin E/MENSG0000017531534
CST7 / O76096 / cystatin FENSG0000007798430


Protein motifs (from Interpro)
Interpro ID Name
 IPR000010  Cystatin domain
 IPR018073  Proteinase inhibitor I25, cystatin, conserved site
 IPR027214  Cystatin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001775 cell activation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006952 defense response IDA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007431 salivary gland development IEA
 biological_processGO:0007566 embryo implantation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0009743 response to carbohydrate IEA
 biological_processGO:0010035 response to inorganic substance IEA
 biological_processGO:0010466 negative regulation of peptidase activity IDA
 biological_processGO:0010711 negative regulation of collagen catabolic process IEP
 biological_processGO:0010716 negative regulation of extracellular matrix disassembly IEP
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0034103 regulation of tissue remodeling IEP
 biological_processGO:0034599 cellular response to oxidative stress IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042747 circadian sleep/wake cycle, REM sleep IEA
 biological_processGO:0043067 regulation of programmed cell death IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045740 positive regulation of DNA replication IEA
 biological_processGO:0045861 negative regulation of proteolysis IDA
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0060009 Sertoli cell development IEA
 biological_processGO:0060311 negative regulation of elastin catabolic process IMP
 biological_processGO:0060313 negative regulation of blood vessel remodeling IEP
 biological_processGO:0060548 negative regulation of cell death IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0097435 supramolecular fiber organization IGI
 biological_processGO:2000117 negative regulation of cysteine-type endopeptidase activity IBA
 cellular_componentGO:0005576 extracellular region IMP
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005771 multivesicular body IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043292 contractile fiber IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0001540 amyloid-beta binding IPI
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004866 endopeptidase inhibitor activity IDA
 molecular_functionGO:0004869 cysteine-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0001297 Stroke 
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 HP:0001342 Cerebral hemorrhage "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators]
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 HP:0002170 Intracranial hemorrhage "A hemorrhage (bleeding) occuring within the skull." [HPO:curators]
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 HP:0003216 Generalized amyloid deposition 
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 HP:0011970 Cerebral amyloid angiopathy "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520]
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 HP:0100613 Death in early adulthood 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101439 CST3 / P01034 / cystatin C  / -






 

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