CAPN1 Gene (Protein Coding)

Calpain 1

GC11P065198
GIFtS:
51
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiq... See more...

Aliases for CAPN1 Gene

Aliases for CAPN1 Gene

  • Calpain 1 2 3 5
  • Cell Proliferation-Inducing Gene 30 Protein 3 4
  • Calcium-Activated Neutral Proteinase 1 3 4
  • Calpain 1, (Mu/I) Large Subunit 2 3
  • Calpain-1 Catalytic Subunit 3 4
  • Calpain-1 Large Subunit 3 4
  • Micromolar-Calpain 3 4
  • Calpain Mu-Type 3 4
  • EC 3.4.22.52 4 52
  • CANP 1 3 4
  • CANPL1 3 4
  • MuCANP 3 4
  • Cell Proliferation-Inducing Protein 30 3
  • Calpain, Large Polypeptide L1 3
  • EC 3.4.22 52
  • CANP1 3
  • SPG76 3
  • CANP 3
  • MuCL 3

External Ids for CAPN1 Gene

Previous GeneCards Identifiers for CAPN1 Gene

  • GC11P067465
  • GC11P066630
  • GC11P064724
  • GC11P064705
  • GC11P064950
  • GC11P061278

Summaries for CAPN1 Gene

Entrez Gene Summary for CAPN1 Gene

  • The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for CAPN1 Gene

CAPN1 (Calpain 1) is a Protein Coding gene. Diseases associated with CAPN1 include Spastic Paraplegia 76, Autosomal Recessive and Spasticity. Among its related pathways are Innate Immune System and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN2.

UniProtKB/Swiss-Prot Summary for CAPN1 Gene

  • Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

Tocris Summary for CAPN1 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

Gene Wiki entry for CAPN1 Gene

Additional gene information for CAPN1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPN1 Gene

Genomics for CAPN1 Gene

GeneHancer (GH) Regulatory Elements for CAPN1 Gene

Promoters and enhancers for CAPN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN1

Top Transcription factor binding sites by QIAGEN in the CAPN1 gene promoter:
  • Gfi-1
  • ITF-2
  • LCR-F1
  • Lmo2
  • p300
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CAPN1 Gene

Genomic Locations for CAPN1 Gene
chr11:65,180,566-65,212,006
(GRCh38/hg38)
Size:
31,441 bases
Orientation:
Plus strand
chr11:64,948,037-64,979,477
(GRCh37/hg19)
Size:
31,441 bases
Orientation:
Plus strand

Genomic View for CAPN1 Gene

Genes around CAPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CAPN1 Gene

Proteins for CAPN1 Gene

Products:

  1. Antibody
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  • Protein details for CAPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07384-CAN1_HUMAN
    Recommended name:
    Calpain-1 catalytic subunit
    Protein Accession:
    P07384
    Secondary Accessions:
    • Q2TTR0
    • Q6DHV4

    Protein attributes for CAPN1 Gene

    Size:
    714 amino acids
    Molecular mass:
    81890 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Forms a heterodimer with a small (regulatory) subunit CAPNS1.

    Three dimensional structures from OCA and Proteopedia for CAPN1 Gene

neXtProt entry for CAPN1 Gene

Protein Expression for CAPN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CAPN1 Gene

P07384:
  • IFRKFDLDKSGSMSAYEMRMAIE
  • CLQSGTLF
  • IILKALERGSLLGCSIDISSVLDMEA
  • RNPWGEVEW
  • GSLLGCSI
  • LGDCWLLA
  • MEDGEFWMSFRDF
  • YEALSGG
  • ITPVYCTGVSAQVQK
  • LVKGHAY
  • FINLREV
  • VPSTFEPNK
  • GHAYSVTGAKQV
  • LETMFRFF
  • AGFKLNKKL
  • RESGCSF
  • SSKTYGIKWKRPTEL
  • TAGGCRN
  • RTDICQG
  • VDFDNFVCCLV
  • LEICNLTPD
  • DMEISVKEL
  • LRFFSEK
  • GATRTDI
  • REFTRLEICNLTPDALKS
  • ALMQKHRRRERR
  • GNEFWSALLEKAYAKVNGSYE
  • YAGIFHF
  • KLVFVHS
  • LLEKAYAK
  • NPQFKIRL
  • VVPSTFEPNKEGDF
  • EGFEDFTGG
  • EDFTGGV
  • RGSTAGGC
  • YVVVPSTFEPN
  • ESCRSMVNLMDRDGNGKLGLVEFNILWNRIRNYL
  • LLHRVVPHGQSFQ
  • FHFQLWQFG

Post-translational modifications for CAPN1 Gene

  • Undergoes calcium-induced successive autoproteolytic cleavages that generate a membrane-bound 78 kDa active form and an intracellular 75 kDa active form. Calpastatin reduces with high efficiency the transition from 78 kDa to 75 kDa calpain forms.
  • Ubiquitination at Lys20, Lys365, Lys398, Lys461, and Lys583
  • Modification sites at PhosphoSitePlus

Other Protein References for CAPN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CAPN1 Gene

Gene Families for CAPN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CAPN1 Gene

Blocks:
  • Calpain cysteine protease (C2) family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAPN1 Gene

GenScript: Design optimal peptide antigens:
  • Micromolar-calpain (CAN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07384

UniProtKB/Swiss-Prot:

CAN1_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN1: view

Function for CAPN1 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for CAPN1 Gene

UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Broad endopeptidase specificity.; EC=3.4.22.52; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by micromolar concentrations of calcium and inhibited by calpastatin.
GENATLAS Biochemistry:
calpain,large polypeptide L1,calcium dependent neutral cysteine proteinase,papain superfamily,mu type (not mutated in MEN1)

Enzyme Numbers (IUBMB) for CAPN1 Gene

Phenotypes From GWAS Catalog for CAPN1 Gene

Gene Ontology (GO) - Molecular Function for CAPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity TAS 17526495
GO:0005509 calcium ion binding IDA,IEA 9271093
GO:0005515 protein binding IPI 9407132
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CAPN1: view
genes like me logo Genes that share phenotypes with CAPN1: view

Human Phenotype Ontology for CAPN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAPN1 Gene

MGI Knock Outs for CAPN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN1

Clone Products

  • Addgene plasmids for CAPN1

No data available for Transcription Factor Targets and HOMER Transcription for CAPN1 Gene

Localization for CAPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN1 Gene

Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon Ca(2+) binding. In granular keratinocytes and in lower corneocytes, colocalizes with FLG and FLG2 (PubMed:21531719). {ECO:0000269 PubMed:21531719}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPN1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
mitochondrion 4
lysosome 4
cytoskeleton 3
nucleus 3
endoplasmic reticulum 2
endosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with CAPN1: view

Pathways & Interactions for CAPN1 Gene

genes like me logo Genes that share pathways with CAPN1: view

Pathways by source for CAPN1 Gene

1 Sino Biological pathway for CAPN1 Gene
1 Tocris pathway for CAPN1 Gene
7 Qiagen pathways for CAPN1 Gene
  • Alzheimers Disease Pathway
  • Calpain Protease Regulates Cellular Mechanics
  • Caspase Cascade
  • CDK5 Pathway
  • ERK Signaling
1 Cell Signaling Technology pathway for CAPN1 Gene
1 GeneTex pathway for CAPN1 Gene

SIGNOR curated interactions for CAPN1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CAPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis ISS,IEA --
GO:0008284 positive regulation of cell proliferation TAS 8702541
GO:0016241 regulation of macroautophagy NAS 17264674
GO:0022617 extracellular matrix disassembly TAS --
GO:0032801 receptor catabolic process IEA --
genes like me logo Genes that share ontologies with CAPN1: view

Drugs & Compounds for CAPN1 Gene

Products:

  1. Drug

(23) Drugs for CAPN1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
(2S)-4-METHYL-2-(3-PHENYLTHIOUREIDO)-N-((3S)-TETRAHYDRO-2-HYDROXY-3-FURANYL)PENTANAMIDE Experimental Pharma Target 0
4-[[(2S)-2-[[(2S)-3-Carboxy-2-hydroxypropanoyl]amino]-4-methylpentanoyl]amino]butyl-(diaminomethylidene)azanium Experimental Pharma Target 0
N-[(benzyloxy)carbonyl]-L-leucyl-N-[(1S)-3-fluoro-1-(4-hydroxybenzyl)-2-oxopropyl]-L-leucinamide Experimental Pharma Target 0
Calpeptin Pharma Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor 0

(9) Additional Compounds for CAPN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for CAPN1 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8

(7) ApexBio Compounds for CAPN1 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Calpain I/II inhibitor 123714-50-1
Calpain Inhibitor I, ALLN Calpain I/II/ B/L inhibitor 110044-82-1
Calpain Inhibitor II, ALLM Calpain inhibitor 136632-32-1
Calpeptin Ca2+-dependent protease,calpain inhibitor 117591-20-5
MDL 28170 Calpain and cathepsin B inhibitor, selective 88191-84-8
PD 150606 Non-peptide calpain inhibitor 179528-45-1
PD 151746 calpain inhibitor, cell-permeable 179461-52-0
genes like me logo Genes that share compounds with CAPN1: view

Drug Products

Transcripts for CAPN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CAPN1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN1

Clone Products

  • Addgene plasmids for CAPN1

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c ·
SP1:
SP2: - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5:
SP6: - - - - - - - - - - -
SP7: - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11:
SP12: - - - - - - - -
SP13: - - - -
SP14:
SP15: - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - -
SP18:
SP19:
SP20:
SP21: - - - - - -
SP22: -
SP23:

ExUns: 12d · 12e ^ 13a · 13b ^ 14a · 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5: - - - -
SP6:
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for CAPN1 Gene

GeneLoc Exon Structure for
CAPN1

Expression for CAPN1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPN1 Gene

mRNA expression in normal human tissues for CAPN1 Gene
mRNA expression by GTEx for CAPN1 GenemRNA expression by BioGPS for CAPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPN1 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAPN1 Gene



Protein tissue co-expression partners for CAPN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN1

SOURCE GeneReport for Unigene cluster for CAPN1 Gene:

Hs.502842

mRNA Expression by UniProt/SwissProt for CAPN1 Gene:

P07384-CAN1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CAPN1 Gene

  • Pancreas(4.6)
  • Nervous system(4.6)
  • Kidney(4.5)
  • Liver(4.5)
  • Intestine(3.7)
  • Lung(3.6)
  • Muscle(2.8)
  • Blood(2.5)
  • Eye(2.4)
  • Heart(2.4)
  • Stomach(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with CAPN1: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN1 Gene

Orthologs for CAPN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CAPN1 31 30
  • 99.3 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CAPN1 31 30
  • 91.75 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CAPN1 31 30
  • 90.9 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Capn1 17 31 30
  • 85.97 (n)
rat
(Rattus norvegicus)
 Mammalia Capn1 30
  • 85.74 (n)
oppossum
(Monodelphis domestica)
 Mammalia CAPN1 31
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CAPN1 31
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CAPN1 31 30
  • 77.92 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CAPN1 31
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia capn1 30
  • 69.61 (n)
African clawed frog
(Xenopus laevis)
 Amphibia capn1-prov 30
zebrafish
(Danio rerio)
 Actinopterygii CAPN1 (1 of 2) 31
  • 71 (a)
 OneToMany
zgc:55262 30
  • 68.04 (n)
CAPN1 (2 of 2) 31
  • 66 (a)
 OneToMany
Dr.17116 30
fruit fly
(Drosophila melanogaster)
 Insecta CalpA 32
  • 48 (a)
CalpB 32
  • 44 (a)
CalpC 32
  • 28 (a)
worm
(Caenorhabditis elegans)
 Secernentea clp-7 32
  • 47 (a)
clp-6 32
  • 43 (a)
clp-3 32
  • 37 (a)
Species where no ortholog for CAPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPN1 Gene

ENSEMBL:
Gene Tree for CAPN1 (if available)
TreeFam:
Gene Tree for CAPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPN1: view image

Paralogs for CAPN1 Gene

Paralogs for CAPN1 Gene

(13) SIMAP similar genes for CAPN1 Gene using alignment to 11 proteins:

  • CAN1_HUMAN
  • E9PIA9_HUMAN
  • E9PJA6_HUMAN
  • E9PJJ3_HUMAN
  • E9PL37_HUMAN
  • E9PLC9_HUMAN
  • E9PLX0_HUMAN
  • E9PMC6_HUMAN
  • E9PQB3_HUMAN
  • E9PRM1_HUMAN
  • E9PSA6_HUMAN
genes like me logo Genes that share paralogs with CAPN1: view

Variants for CAPN1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
617483 Pathogenic: Spastic paraplegia 76, autosomal recessive 65,183,473(+) G/A SPLICE_ACCEPTOR_VARIANT
710004 Benign: not provided 65,185,943(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
711379 Likely Benign: not provided 65,185,979(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
717352 Benign: not provided 65,210,013(+) C/T INTRON_VARIANT
720350 Benign: not provided 65,182,860(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CAPN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CAPN1 Gene

Variant ID Type Subtype PubMed ID
nsv1070043 CNV deletion 25765185
nsv1136131 CNV deletion 24896259
nsv509418 CNV insertion 20534489
nsv526181 CNV gain 19592680
nsv832190 CNV loss 17160897

Variation tolerance for CAPN1 Gene

Residual Variation Intolerance Score: 62.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPN1 Gene

Human Gene Mutation Database (HGMD)
CAPN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN1 Gene

Disorders for CAPN1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CAPN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 76, autosomal recessive
  • spg76
spasticity
paraplegia
  • paraplegia, lower
nuclear senile cataract
  • senile nuclear cataract
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search CAPN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAN1_HUMAN
  • Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:27153400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CAPN1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAPN1: view

No data available for Genatlas for CAPN1 Gene

Publications for CAPN1 Gene

  1. Complete amino acid sequence of the large subunit of the low-Ca2+-requiring form of human Ca2+-activated neutral protease (muCANP) deduced from its cDNA sequence. (PMID: 3017764) Aoki K … Suzuki K (FEBS letters 1986) 2 3 4 54
  2. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. (PMID: 27153400) Gan-Or Z … Ouled Amar Bencheikh B (American journal of human genetics 2016) 3 4 54
  3. Deimination of human filaggrin-2 promotes its proteolysis by calpain 1. (PMID: 21531719) Hsu CY … Simon M (The Journal of biological chemistry 2011) 3 4 54
  4. Calpain-mediated activation of NO synthase in human neuroblastoma SK-N-BE cells. (PMID: 19457105) Averna M … Melloni E (Journal of neurochemistry 2009) 3 23 54
  5. Platelet sarcoplasmic endoplasmic reticulum Ca2+-ATPase and mu-calpain activity are altered in type 2 diabetes mellitus and restored by rosiglitazone. (PMID: 18071073) Randriamboavonjy V … Fleming I (Circulation 2008) 3 23 54

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