ENSG00000014216


Homo sapiens

Features
Gene ID: ENSG00000014216
  
Biological name :CAPN1
  
Synonyms : calpain 1 / CAPN1 / P07384
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.1
Gene start: 65180566
Gene end: 65212006
  
Corresponding Affymetrix probe sets: 200752_s_at (Human Genome U133 Plus 2.0 Array)   232012_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431793
Ensembl peptide - ENSP00000431984
Ensembl peptide - ENSP00000436693
Ensembl peptide - ENSP00000436002
Ensembl peptide - ENSP00000435847
Ensembl peptide - ENSP00000435272
Ensembl peptide - ENSP00000435198
Ensembl peptide - ENSP00000435092
Ensembl peptide - ENSP00000434176
Ensembl peptide - ENSP00000433823
Ensembl peptide - ENSP00000433366
Ensembl peptide - ENSP00000432512
Ensembl peptide - ENSP00000279247
Ensembl peptide - ENSP00000431172
Ensembl peptide - ENSP00000431528
Ensembl peptide - ENSP00000431686
NCBI entrez gene - 823     See in Manteia.
OMIM - 114220
RefSeq - NM_001198869
RefSeq - NM_005186
RefSeq - NM_001198868
RefSeq - XM_006718698
RefSeq - XM_011545292
RefSeq Peptide - NP_001185797
RefSeq Peptide - NP_001185798
RefSeq Peptide - NP_005177
swissprot - E9PJA6
swissprot - E9PSA6
swissprot - P07384
swissprot - E9PIA9
swissprot - E9PRM1
swissprot - E9PQB3
swissprot - E9PMC6
swissprot - E9PLX0
swissprot - E9PLC9
swissprot - E9PL37
swissprot - E9PJJ3
Ensembl - ENSG00000014216
  
Related genetic diseases (OMIM): 616907 - Spastic paraplegia 76, autosomal recessive, 616907
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
 CAPN1ENSDARG00000055338Danio rerio
 zgc:55262ENSDARG00000045199Danio rerio
 Capn1ENSMUSG00000024942Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CAPN2 / P17655 / calpain 2ENSG0000016290962
CAPN8 / A6NHC0 / calpain 8ENSG0000020369757
CAPN11 / Q9UMQ6 / calpain 11ENSG0000013722554
CAPN3 / P20807 / calpain 3ENSG0000009252953
CAPN9 / O14815 / calpain 9ENSG0000013577352
CAPN12 / Q6ZSI9 / calpain 12ENSG0000018247243
A8MX76 / CAPN14 / calpain 14ENSG0000021471136
CAPN13 / Q6MZZ7 / calpain 13ENSG0000016294932
CAPN5 / O15484 / calpain 5ENSG0000014926030
CAPN6 / Q9Y6Q1 / calpain 6ENSG0000007727427


Protein motifs (from Interpro)
Interpro ID Name
 IPR000169  Cysteine peptidase, cysteine active site
 IPR001300  Peptidase C2, calpain, catalytic domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022682  Peptidase C2, calpain, large subunit, domain III
 IPR022683  Peptidase C2, calpain, domain III
 IPR022684  Peptidase C2, calpain family
 IPR029643  Calpain-1
 IPR033883  Calpain subdomain III
 IPR036213  Calpain large subunit, domain III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0016241 regulation of macroautophagy NAS
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0032801 receptor catabolic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0050790 regulation of catalytic activity IDA
 biological_processGO:0060056 mammary gland involution IEA
 biological_processGO:0070268 cornification TAS
 biological_processGO:0097264 self proteolysis IDA
 biological_processGO:2000310 regulation of NMDA receptor activity TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0004175 endopeptidase activity TAS
 molecular_functionGO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Neutrophil degranulation
Formation of the cornified envelope
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:0000009 Functional abnormality of the bladder 
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 HP:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001310 Dysmetria 
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 HP:0001761 Pes cavus 
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 HP:0002061 Lower limb spasticity 
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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 HP:0002070 Limb ataxia 
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 HP:0002395 Lower limb hyperreflexia 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003390 Sensory axonal neuropathy "An axonal neuropathy of peripheral sensory nerves." [HPO:curators]
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0007350 Hyperreflexia in upper limbs 
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 HP:0008081 Valgus foot deformity 
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 HP:0009830 Peripheral neuropathy "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators]
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 HP:0011448 Ankle clonus "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000126247 CAPNS1 / P04632 / calpain small subunit 1  / complex
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / reaction
 ENSG00000256812 CAPNS2 / Q96L46 / calpain small subunit 2  / complex
 ENSG00000176749 CDK5R1 / Q15078 / cyclin dependent kinase 5 regulatory subunit 1  / reaction
 ENSG00000143631 FLG / P20930 / filaggrin  / reaction
 ENSG00000153113 CAST / P20810 / calpastatin  / complex / reaction






 

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