Aliases for CAPN1 Gene
Aliases for CAPN1 Gene
External Ids for CAPN1 Gene
- HGNC: 1476
- Entrez Gene: 823
- Ensembl: ENSG00000014216
- OMIM: 114220
- UniProtKB: P07384
Previous GeneCards Identifiers for CAPN1 Gene
- GC11P067465
- GC11P066630
- GC11P064724
- GC11P064705
- GC11P064950
- GC11P061278
Summaries 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 Focal Adhesion and B Cell Receptor Signaling Pathway (sino). 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 for CAPN1 Gene
-
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
-
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.
Additional gene information for CAPN1 Gene
- Monarch Initiative
- Search for CAPN1 at DataMed
- Search for CAPN1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the CAPN1 gene promoter:
-
- p300
- PPAR-gamma2
- Gfi-1
- Lmo2
- LCR-F1
- PPAR-gamma1
- SREBP-1c
- SREBP-1b
- SREBP-1a
- ITF-2
Regulatory Element Products
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:
-
- 11q13.1 by Entrez Gene
- 11q13.1 by HGNC
- 11q13.1 by Ensembl
CAPN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CAPN1 Gene
Proteins for CAPN1 Gene
-
Protein details for CAPN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P07384-CAN1_HUMAN
- Recommended name:
- Calpain-1 catalytic subunit
- Protein Accession:
- P07384
- 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.
Protein Expression for CAPN1 Gene
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 Lys583, Lys461, Lys398, and Lys365
- Modification sites at PhosphoSitePlus
Other Protein References for CAPN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CAPN1
- Novus Biologicals Antibodies for CAPN1
-
Abcam antibodies for CAPN1
- Invitrogen Antibodies for CAPN1
- GeneTex CAPN1 Antibody for CAPN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAPN1
Protein Products
-
OriGene Purified Proteins for CAPN1
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN1
- Origene Custom Protein Services for CAPN1
- ProSpec Recombinant Proteins for CAPN1
- GeneTex Proteins for CAPN1
-
Abcam proteins for CAPN1
Assay Products
-
Abcam assays for CAPN1
No data available for DME Specific Peptides for CAPN1 Gene
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
Suggested Antigen Peptide Sequences for CAPN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P07384- Family:
-
- Belongs to the peptidase C2 family.
Function for CAPN1 Gene
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:
- Broad endopeptidase specificity.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | TAS | -- |
| GO:0004198 | calcium-dependent cysteine-type endopeptidase activity | IEA,TAS | 17526495 |
| GO:0005509 | calcium ion binding | IDA,IEA | 9271093 |
| GO:0005515 | protein binding | IPI | 9407132 |
| GO:0008233 | peptidase activity | IEA | -- |
Phenotypes for CAPN1 Gene
- MGI mutant phenotypes for CAPN1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CAPN1:
-
- Increased HPV18 LCR reporter activity
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased ionizing radiation sensitivity
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAPN1
-
CRISPR Products
-
OriGene CRISPR knockouts for CAPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN1
- genomics-online: gRNA clones - Search results for 143 available CAPNL1 gene related products
- Overview of 143 available CAPNL1 gene related products
- Applied Biological Materials CRISPR for CAPN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN1
- GenScript: Design CRISPR guide RNA sequences for CAPN1
miRNA for CAPN1 Gene
- miRTarBase miRNAs that target CAPN1
-
- hsa-mir-1-3p (MIRT023560)
- hsa-mir-34a-5p (MIRT025341)
- hsa-mir-140-5p (MIRT267872)
- hsa-mir-487a-5p (MIRT267873)
- hsa-mir-487b-5p (MIRT267874)
- hsa-mir-1205 (MIRT267875)
- hsa-mir-4460 (MIRT267876)
- hsa-mir-203b-5p (MIRT267877)
- hsa-mir-6718-5p (MIRT267879)
- hsa-mir-6811-5p (MIRT538724)
- hsa-mir-6511b-5p (MIRT538725)
- hsa-mir-6809-5p (MIRT538726)
- hsa-mir-4708-3p (MIRT538727)
- hsa-mir-17-3p (MIRT538728)
- hsa-mir-1184 (MIRT538729)
- hsa-mir-3158-5p (MIRT538730)
- hsa-mir-4742-5p (MIRT538731)
- hsa-mir-1249-5p (MIRT736420)
- hsa-mir-1321 (MIRT737316)
- hsa-mir-1343-5p (MIRT737452)
- hsa-mir-140-3p (MIRT737567)
- hsa-mir-149-3p (MIRT737705)
- hsa-mir-151a-5p (MIRT737840)
- hsa-mir-151b (MIRT737855)
- hsa-mir-3173-3p (MIRT740608)
- hsa-mir-3177-3p (MIRT740702)
- hsa-mir-3188 (MIRT740935)
- hsa-mir-4419a (MIRT744167)
- hsa-mir-4445-3p (MIRT744602)
- hsa-mir-4493 (MIRT745310)
- hsa-mir-4510 (MIRT745606)
- hsa-mir-4728-5p (MIRT747801)
- hsa-mir-4739 (MIRT748034)
- hsa-mir-4747-5p (MIRT748226)
- hsa-mir-4756-5p (MIRT748406)
- hsa-mir-4779 (MIRT748727)
- hsa-mir-5196-5p (MIRT750010)
- hsa-mir-548al (MIRT750536)
- hsa-mir-6127 (MIRT752081)
- hsa-mir-6129 (MIRT752153)
- hsa-mir-6130 (MIRT752242)
- hsa-mir-6133 (MIRT752346)
- hsa-mir-6785-5p (MIRT755796)
- hsa-mir-6797-5p (MIRT756180)
- hsa-mir-6883-5p (MIRT758381)
- hsa-mir-6891-5p (MIRT758666)
- hsa-mir-7150 (MIRT759158)
- hsa-mir-939-5p (MIRT760743)
- hsa-mir-9500 (MIRT760873)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CAPN1
- Browse OriGene Inhibitory RNA Products For CAPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN1
- genomics-online: shRNA clones - Search results for 143 available CAPNL1 gene related products
- Overview of 143 available CAPNL1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CAPN1
- VectorBuilder custom plasmid, inducible vectors for CAPN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAPN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CAPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN1
- Applied Biological Materials Clones for CAPN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| cytoskeleton | 2 |
| nucleus | 2 |
| lysosome | 2 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IBA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
Pathways & Interactions for CAPN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 3 | BMP Pathway |
.36
|
|
| 4 | Degradation of the extracellular matrix | ||
| 5 | Neurodegenerative Diseases | ||
Pathways by source for CAPN1 Gene
1 Sino Biological pathway for CAPN1 Gene
1 GeneTex pathway for CAPN1 Gene
4 BioSystems pathways for CAPN1 Gene
5 KEGG pathways for CAPN1 Gene
1 Tocris pathway for CAPN1 Gene
7 Qiagen pathways for CAPN1 Gene
1 Cell Signaling Technology pathway for CAPN1 Gene
Interacting Proteins for CAPN1 Gene
Selected Interacting proteins:
P07384-CAN1_HUMAN
ENSP00000279247
for CAPN1 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for CAPN1
| 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 | -- |
No data available for SIGNOR curated interactions for CAPN1 Gene
Drugs & Compounds for CAPN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 | |||
| (2S)-4-METHYL-2-(3-PHENYLTHIOUREIDO)-N-((3S)-TETRAHYDRO-2-HYDROXY-3-FURANYL)PENTANAMIDE | Experimental | Pharma | Target | 0 | ||
| CBZ-LEU-LEU-TYR-CH2F | Experimental | Pharma | Target | 0 | ||
| N-[N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-Butyl]-Guanidine | Experimental | Pharma | Target | 0 | ||
| Calpeptin | Pharma | Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(2) Tocris Compounds for CAPN1 Gene
(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 |
Transcripts for CAPN1 Gene
mRNA/cDNA for CAPN1 Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (670) Selected AceView cDNA sequences:
- (28) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000533820 3083 bps (uc009yqd.3)
- ENST00000527739 582 bps (uc058dhi.1)
- ENST00000526966 550 bps (uc058dhj.1)
- ENST00000533129 2792 bps (uc058dhk.1)
- ENST00000524773 2960 bps (uc001odf.3)
Unigene Clusters for CAPN1 Gene
- Calpain 1, (mu/I) large subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CAPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN1
- genomics-online: gRNA clones - Search results for 143 available CAPNL1 gene related products
- Overview of 143 available CAPNL1 gene related products
- Applied Biological Materials CRISPR for CAPN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN1
- GenScript: Design CRISPR guide RNA sequences for CAPN1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CAPN1
- Browse OriGene Inhibitory RNA Products For CAPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN1
- genomics-online: shRNA clones - Search results for 143 available CAPNL1 gene related products
- Overview of 143 available CAPNL1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CAPN1
- VectorBuilder custom plasmid, inducible vectors for CAPN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAPN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CAPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN1
- Applied Biological Materials Clones for CAPN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | · |
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| SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
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| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP22: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP23: |
| ExUns: | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30a | · | 30b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
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| SP21: | |||||||||||
| SP22: | |||||||||||
| SP23: |
Expression for CAPN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
-
Epidermis (Integumentary System)
- Spinous Keratinocytes Stratified Epidermis
-
Epithelial Cells
- Spinous Keratinocytes Stratified Epidermis
- Bone (Muscoskeletal System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Stomach (Gastrointestinal Tract)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CAPN1 Gene:
CAPN1SOURCE GeneReport for Unigene cluster for CAPN1 Gene:
Hs.502842mRNA 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for CAPN1
-
OriGene qPCR primer pairs for CAPN1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CAPN1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CAPN1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CAPN1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Capn1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Capn1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CAPN1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CAPN1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CAPN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | capn1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | capn1-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CAPN1 (1 of 2) 34 |
|
OneToMany | |
| zgc:55262 33 |
|
||||
| CAPN1 (2 of 2) 34 |
|
OneToMany | |||
| Dr.17116 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CalpA 35 |
|
|
|
| CalpB 35 |
|
|
|||
| CalpC 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | clp-7 35 |
|
|
|
| clp-6 35 |
|
|
|||
| clp-3 35 |
|
|
- 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
Variants for CAPN1 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs375817528 | pathogenic, Spastic paraplegia 76, autosomal recessive | 65,206,824(+) | G/A | intron_variant | |
| rs756205995 | pathogenic, Spastic paraplegia 76, autosomal recessive, Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907] | 65,187,995(+) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs875989787 | pathogenic, Spastic paraplegia 76, autosomal recessive | 65,206,793(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs875989845 | pathogenic, Spastic paraplegia 76, autosomal recessive | 65,183,542(+) | CC/C | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1033093801 | pathogenic, not provided | 65,187,964(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN1 Gene
Disorders for CAPN1 Gene
(6) MalaCards diseases for CAPN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 76, autosomal recessive |
|
|
| spasticity |
|
|
| spastic paraplegia 73, autosomal dominant |
|
|
| chronic cervicitis |
|
|
| hereditary spastic paraplegia |
|
|
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
No data available for Genatlas for CAPN1 Gene
Publications for CAPN1 Gene
- 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 58
- 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 58
- 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 58
- Calpain-mediated activation of NO synthase in human neuroblastoma SK-N-BE cells. (PMID: 19457105) Averna M … Melloni E (Journal of neurochemistry 2009) 3 22 58
- 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 22 58
Products for CAPN1 Gene
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- ProSpec Recombinant Proteins for CAPN1
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- VectorBuilder custom plasmid, inducible vectors for CAPN1
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CAPN1
- antibodies-online: Search results for 61 available CAPNL1 Antibodies ranked by validation data
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- GeneTex CAPN1 Antibody for CAPN1
- GeneTex Proteins for CAPN1
- Santa Cruz Biotechnology (SCBT) Antibodies for CAPN1
- Search Santa Cruz Biotechnology (SCBT) for CAPN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CAPN1
- Horizon Cell Lines for CAPN1
- genomics-online: cdna clones - Search results for 143 available CAPNL1 gene related products
- Overview of 143 available CAPNL1 gene related products
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- Overview of 143 available CAPNL1 gene related products
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- Overview of 143 available CAPNL1 gene related products
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- GeneCopoeia miRNA 3'UTR Target clone products for CAPN1
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Sources for CAPN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO