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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
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 Paraplegia. Among its related pathways are Neuroscience and Degradation of the extracellular matrix. 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.
-
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
- HGNC(1476)
- Entrez Gene(823)
- Ensembl(ENSG00000014216)
- OMIM(114220)
- UniProtKB(P07384)
- Open Targets Platform(ENSG00000014216)
- Monarch Initiative
- Search for CAPN1 at DataMed
- Search for CAPN1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 11q13.1 by HGNC
- 11q13.1 by Entrez Gene
- 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
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
- NX_P07384 (NX_P07384-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CAPN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CAPN1 Antibody
- NSJ Bioreagents Calpain Antibody and Calpain 1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CAPN1
- Novus Biologicals Antibodies for CAPN1
-
Abcam antibodies for CAPN1
- Invitrogen Antibodies for CAPN1 (AFLGC-CAPN1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAPN1
- Sino Biological 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
-
Abcam proteins for CAPN1
Assay Products
- Novus Biologicals ELISA Kits for CAPN1
- antibodies-online: Show 28 available CAPN1 Elisa Kits ranked by validation data
- Compare Top CAPN1 Elisa Kits
-
Quality Products:
- ABIN6720475
- ABIN417776
- ABIN1568781
- ABIN5522569
- ABIN5593239
- ABIN5652510
- ABIN2542368
- ABIN6211353
- ABIN585552
- ABIN6730978
- ABIN424286
- ABIN1568782
- ABIN5652511
- ABIN4967685
- ABIN2542369
- ABIN6211354
- ABIN1124978
- ABIN5522570
- ABIN5593240
- ABIN5652512
- ABIN2945971
- ABIN2945972
- ABIN6211355
- ABIN6211356
- ABIN1124980
- ABIN829101
- ABIN1124977
-
Abcam assays for CAPN1
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
- InterPro:
- Blocks:
-
- Calpain cysteine protease (C2) family signature
- 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- 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:
- Reaction=Broad endopeptidase specificity.; EC=3.4.22.52; Evidence={ECO:0000269|PubMed:16411745, ECO:0000269|PubMed:21531719};.
- 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:0004198 | calcium-dependent cysteine-type endopeptidase activity | IEA,TAS | 17526495 |
| GO:0005509 | calcium ion binding | IEA,IDA | 9271093 |
| GO:0005515 | protein binding | IPI | 9407132 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008234 | cysteine-type peptidase activity | IEA | -- |
Phenotypes for CAPN1 Gene
- MGI mutant phenotypes for CAPN1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CAPN1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Increased ionizing radiation sensitivity
- Increased replication of vaccinia virus (VACV)
- Increased HPV18 LCR reporter activity
- Increased the percentage of infected cells
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased cell spreading
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CAPN1 - Select products 50% OFF >
- * CAPN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CAPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN1
miRNA for CAPN1 Gene
- miRTarBase miRNAs that target CAPN1
-
- mmu-miR-136-5p (MIRT015037)
- 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 shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for CAPN1 - Select products 50% OFF >
- * CAPN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210215
- MG222250
- MR210215
- MR210215L3
- MR210215L4
- MR222250
- MR222250L3
- MR222250L4
- RC200964
- RC200964L1
- RC200964L2
- RC200964L3
- RC200964L4
- RC234758
- RC234759
- RG200964
- RG234758
- RG234759
- RR211513
- RR211513L3
- RR211513L4
- MR210215L3V
- MR210215L4V
- MR222250L3V
- MR222250L4V
- RC200964L1V
- RC200964L2V
- RC200964L3V
- RC200964L4V
- RR211513L3V
- RR211513L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CAPN1
- Addgene plasmids for CAPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN1
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 | 4 |
| lysosome | 4 |
| cytoskeleton | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005829 | cytosol | IEA,TAS | -- |
Pathways & Interactions for CAPN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | nNOS Signaling in Skeletal Muscle |
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
|
Calpain Protease Regulates Cellular Mechanics
.31
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Degradation of the extracellular matrix | ||
| 4 | Neurodegenerative Diseases | ||
| 5 | Keratinization |
.33
|
|
Pathways by source for CAPN1 Gene
1 Sino Biological pathway for CAPN1 Gene
4 BioSystems pathways for CAPN1 Gene
11 Reactome pathways for CAPN1 Gene
6 KEGG pathways 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
Interacting Proteins for CAPN1 Gene
Selected Interacting proteins:
P07384-CAN1_HUMAN
ENSP00000431984
for CAPN1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CAPN1
SIGNOR curated interactions for CAPN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA,ISS | -- |
| 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 | -- |
Drugs & Compounds for CAPN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| (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 | |||
| MDL 28170 | Pharma | Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B 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
- 3 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000528396 571 nts (view in UCSC)
- ENST00000529133 593 nts (view in UCSC)
- ENST00000533820 3083 nts (view in UCSC)
- ENST00000527739 582 nts (view in UCSC)
- ENST00000526966 550 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CAPN1 - Select products 50% OFF >
- * CAPN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CAPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for CAPN1 - Select products 50% OFF >
- * CAPN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210215
- MG222250
- MR210215
- MR210215L3
- MR210215L4
- MR222250
- MR222250L3
- MR222250L4
- RC200964
- RC200964L1
- RC200964L2
- RC200964L3
- RC200964L4
- RC234758
- RC234759
- RG200964
- RG234758
- RG234759
- RR211513
- RR211513L3
- RR211513L4
- MR210215L3V
- MR210215L4V
- MR222250L3V
- MR222250L4V
- RC200964L1V
- RC200964L2V
- RC200964L3V
- RC200964L4V
- RR211513L3V
- RR211513L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CAPN1
- Addgene plasmids for CAPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN1
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN1
SOURCE 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
- Nervous system(4.8)
- Liver(4.7)
- Pancreas(4.7)
- Kidney(4.7)
- Intestine(4.2)
- Lung(4.1)
- Heart(3.6)
- Blood(3.5)
- Muscle(3.5)
- Eye(3.5)
- Skin(3.3)
- Stomach(2.8)
- Adrenal gland(2.7)
- Bone marrow(2.6)
- Lymph node(2.5)
- Spleen(2.5)
- Thyroid gland(2.5)
- Bone(2)
Primer Products
-
OriGene qPCR primer pairs for CAPN1
-
OriGene qPCR primer pairs and template standards 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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CAPN1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CAPN1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Capn1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Capn1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CAPN1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CAPN1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CAPN1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | capn1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | capn1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CAPN1 (1 of 2) 31 |
|
OneToMany | |
| zgc:55262 30 |
|
||||
| CAPN1 (2 of 2) 31 |
|
OneToMany | |||
| Dr.17116 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CalpA 32 |
|
|
|
| CalpB 32 |
|
|
|||
| CalpC 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | clp-7 32 |
|
|
|
| clp-6 32 |
|
|
|||
| clp-3 32 |
|
|
- Species where no ortholog for CAPN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
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 |
| 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
(18) 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 |
|
|
| paraplegia |
|
|
| spasticity |
|
|
| nuclear senile cataract |
|
|
| spastic ataxia |
|
|
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
- Four genes for the calpain family locate on four distinct human chromosomes. (PMID: 2209092) Ohno S … Suzuki K (Cytogenetics and cell genetics 1990) 2 3 23
- 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
- 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
- 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
- Calpains: markers of tumor aggressiveness? (PMID: 20193680) Roumes H … Cottin P (Experimental cell research 2010) 3 23
ExternalLinks
Products for CAPN1 Gene
- Custom Antibody ServicesOriGene Antibodies for CAPN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CAPN1
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN1
- Origene Custom Protein Services for CAPN1
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- Browse OriGene Inhibitory RNA Products For CAPN1
- OriGene qPCR primer pairs for CAPN1
- OriGene qPCR primer pairs and template standards for CAPN1
- OriGene CRISPR knockouts for CAPN1
- MG210215
- MG222250
- MR210215
- MR210215L3
- MR210215L4
- MR222250
- MR222250L3
- MR222250L4
- RC200964
- RC200964L1
- RC200964L2
- RC200964L3
- RC200964L4
- RC234758
- RC234759
- RG200964
- RG234758
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- RR211513
- RR211513L3
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- MR210215L3V
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- MR222250L3V
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- RC200964L1V
- RC200964L2V
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- RR211513L3V
- RR211513L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CAPN1
- Sino Biological Human cDNA Clone for CAPN1
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for CAPN1
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for CAPN1
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- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for CAPN1
- Abcam proteins for CAPN1
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- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ApexBio compounds for CAPN1
- VectorBuilder Custom and pre-made DNA vectors for CAPN1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CAPN1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CAPN1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CAPN1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CAPN1
- Addgene plasmids for CAPN1
- antibodies-online: Show 51 available CAPN1 Antibodies ranked by validation data
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- antibodies-online: Show 28 available CAPN1 Elisa Kits ranked by validation data
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- ABIN2542368
- ABIN6211353
- ABIN585552
- ABIN6730978
- ABIN424286
- ABIN1568782
- ABIN5652511
- ABIN4967685
- ABIN2542369
- ABIN6211354
- ABIN1124978
- ABIN5522570
- ABIN5593240
- ABIN5652512
- ABIN2945971
- ABIN2945972
- ABIN6211355
- ABIN6211356
- ABIN1124980
- ABIN829101
- ABIN1124977
- antibodies-online: Show 22 available CAPN1 Proteins ranked by validation data
- Compare Top CAPN1 Proteins
- 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
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CAPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN1
Sources for CAPN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19)