ENSG00000153113


Homo sapiens

Features
Gene ID: ENSG00000153113
  
Biological name :CAST
  
Synonyms : calpastatin / CAST / P20810
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q15
Gene start: 96525267
Gene end: 96779595
  
Corresponding Affymetrix probe sets: 1564010_at (Human Genome U133 Plus 2.0 Array)   207467_x_at (Human Genome U133 Plus 2.0 Array)   208908_s_at (Human Genome U133 Plus 2.0 Array)   212580_at (Human Genome U133 Plus 2.0 Array)   212586_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422466
Ensembl peptide - ENSP00000422325
Ensembl peptide - ENSP00000422612
Ensembl peptide - ENSP00000432878
Ensembl peptide - ENSP00000427195
Ensembl peptide - ENSP00000427092
Ensembl peptide - ENSP00000426946
Ensembl peptide - ENSP00000426422
Ensembl peptide - ENSP00000425787
Ensembl peptide - ENSP00000425721
Ensembl peptide - ENSP00000425670
Ensembl peptide - ENSP00000424160
Ensembl peptide - ENSP00000423846
Ensembl peptide - ENSP00000423638
Ensembl peptide - ENSP00000422957
Ensembl peptide - ENSP00000422951
Ensembl peptide - ENSP00000422929
Ensembl peptide - ENSP00000422831
Ensembl peptide - ENSP00000422807
Ensembl peptide - ENSP00000422677
Ensembl peptide - ENSP00000312523
Ensembl peptide - ENSP00000320319
Ensembl peptide - ENSP00000339914
Ensembl peptide - ENSP00000343421
Ensembl peptide - ENSP00000379157
Ensembl peptide - ENSP00000379158
Ensembl peptide - ENSP00000396558
Ensembl peptide - ENSP00000412374
Ensembl peptide - ENSP00000421130
Ensembl peptide - ENSP00000421230
Ensembl peptide - ENSP00000422176
NCBI entrez gene - 831     See in Manteia.
OMIM - 114090
RefSeq - XM_017009932
RefSeq - XM_006714702
RefSeq - XM_006714703
RefSeq - XM_006714704
RefSeq - XM_006714705
RefSeq - XM_006714706
RefSeq - XM_006714707
RefSeq - XM_006714708
RefSeq - XM_006714709
RefSeq - XM_006714710
RefSeq - XM_006714711
RefSeq - XM_006714712
RefSeq - XM_006714713
RefSeq - XM_006714714
RefSeq - XM_006714715
RefSeq - XM_011543654
RefSeq - XM_011543655
RefSeq - XM_011543656
RefSeq - XM_011543657
RefSeq - XM_011543658
RefSeq - XM_017009911
RefSeq - XM_017009912
RefSeq - XM_017009913
RefSeq - XM_017009914
RefSeq - XM_017009915
RefSeq - XM_017009916
RefSeq - XM_017009917
RefSeq - XM_017009918
RefSeq - XM_017009919
RefSeq - XM_017009920
RefSeq - XM_017009921
RefSeq - XM_017009922
RefSeq - XM_017009923
RefSeq - XM_017009924
RefSeq - XM_017009925
RefSeq - XM_017009926
RefSeq - XM_017009927
RefSeq - XM_017009928
RefSeq - XM_017009929
RefSeq - XM_017009930
RefSeq - XM_017009931
RefSeq - NM_001042440
RefSeq - NM_001042442
RefSeq - NM_001042443
RefSeq - NM_001042444
RefSeq - NM_001190442
RefSeq - NM_001284212
RefSeq - NM_001284213
RefSeq - NM_001330627
RefSeq - NM_001330628
RefSeq - NM_001330632
RefSeq - NM_001330633
RefSeq - NM_173060
RefSeq - XM_006714696
RefSeq - XM_006714697
RefSeq - XM_006714698
RefSeq - XM_006714699
RefSeq - XM_006714700
RefSeq - XM_006714701
RefSeq Peptide - NP_001271142
RefSeq Peptide - NP_001317556
RefSeq Peptide - NP_001317557
RefSeq Peptide - NP_001317560
RefSeq Peptide - NP_001317561
RefSeq Peptide - NP_001317562
RefSeq Peptide - NP_001741
RefSeq Peptide - NP_775083
RefSeq Peptide - NP_001177371
RefSeq Peptide - NP_001271141
RefSeq Peptide - NP_001035905
RefSeq Peptide - NP_001035907
RefSeq Peptide - NP_001035908
RefSeq Peptide - NP_001035909
RefSeq Peptide - NP_001035910
swissprot - A0A0C4DGD1
swissprot - A0A0C4DGB5
swissprot - F8W7E0
swissprot - H0Y7F0
swissprot - H0Y944
swissprot - E9PSG1
swissprot - H0YA91
swissprot - H0YD33
swissprot - P20810
swissprot - A0A0A0MR45
swissprot - H0Y9H6
swissprot - E9PDE4
swissprot - E9PCH5
swissprot - E7EVY3
swissprot - E7ES10
swissprot - E7EQK6
swissprot - E7EQA0
swissprot - E7EQ12
swissprot - E7EN75
swissprot - D6RGF7
swissprot - D6RC54
swissprot - D6RBZ8
swissprot - D6RBR1
swissprot - D6RAA8
swissprot - B7Z574
Ensembl - ENSG00000153113
  
Related genetic diseases (OMIM): 616295 - Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295
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
 castENSDARG00000058693Danio rerio
 CASTENSGALG00000014682Gallus gallus
 CastENSMUSG00000021585Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001259  Proteinase inhibitor I27, calpastatin
 IPR026998  Calpastatin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0097340 inhibition of cysteine-type endopeptidase activity IMP
 biological_processGO:2000675 negative regulation of type B pancreatic cell apoptotic process IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0004866 endopeptidase inhibitor activity TAS
 molecular_functionGO:0004869 cysteine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0010859 calcium-dependent cysteine-type endopeptidase inhibitor activity IMP
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimers disease models


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001820 Leukonychia 
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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 HP:0030318 Angular cheilitis "A type of inflammation of the lips involving one or both of the corners of the mouth." [HPO:probinson]
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 HP:0040189 Scaling skin "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000126247 CAPNS1 / P04632 / calpain small subunit 1  / complex / reaction
 ENSG00000256812 CAPNS2 / Q96L46 / calpain small subunit 2  / reaction / complex
 ENSG00000162909 CAPN2 / P17655 / calpain 2  / complex / reaction
 ENSG00000014216 CAPN1 / P07384 / calpain 1  / reaction / complex






 

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