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Aliases for CAPN6 Gene

Aliases for CAPN6 Gene

  • Calpain 6 2 3
  • Calpain-Like Protease X-Linked 3 4
  • Calpamodulin 3 4
  • CANPX 3 4
  • CalpM 3 4
  • DJ914P14.1 3
  • Calpain-6 3
  • EC 3.4.22 63
  • CAPNX 3

External Ids for CAPN6 Gene

Summaries for CAPN6 Gene

Entrez Gene Summary for CAPN6 Gene

  • Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]

GeneCards Summary for CAPN6 Gene

CAPN6 (Calpain 6) is a Protein Coding gene. Among its related pathways are ERK Signaling and Apoptosis Pathway. GO annotations related to this gene include microtubule binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN9.

UniProtKB/Swiss-Prot for CAPN6 Gene

  • Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).

Tocris Summary for CAPN6 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most well-characterized. 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. Calpains are regulated by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization (limiting access to substrate). These endopeptidases have numerous functions including, but not limited to, remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility, proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimers disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN6 Gene

Genomics for CAPN6 Gene

Genomic Location for CAPN6 Gene

Start:
111,245,099 bp from pter
End:
111,270,546 bp from pter
Size:
25,448 bases
Orientation:
Minus strand

Genomic View for CAPN6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CAPN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN6 Gene

Regulatory Elements for CAPN6 Gene

Proteins for CAPN6 Gene

  • Protein details for CAPN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q1-CAN6_HUMAN
    Recommended name:
    Calpain-6
    Protein Accession:
    Q9Y6Q1
    Secondary Accessions:
    • D3DUY7
    • Q9UEQ1
    • Q9UJA8

    Protein attributes for CAPN6 Gene

    Size:
    641 amino acids
    Molecular mass:
    74576 Da
    Quaternary structure:
    • Interacts (via domain III) with microtubules. Interacts (via domain II) with ARHGEF2 (via the N-terminal zinc finger).

neXtProt entry for CAPN6 Gene

Proteomics data for CAPN6 Gene at MOPED

Selected DME Specific Peptides for CAPN6 Gene

Post-translational modifications for CAPN6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPN6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for CAPN6 Gene

Suggested Antigen Peptide Sequences for CAPN6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6Q1

UniProtKB/Swiss-Prot:

CAN6_HUMAN
Domain:
  • Contains 1 C2 domain.:
    • Q9Y6Q1
  • Contains 1 calpain catalytic domain.:
    • Q9Y6Q1
Family:
  • Belongs to the peptidase C2 family.:
    • Q9Y6Q1
genes like me logo Genes that share domains with CAPN6: view

No data available for Gene Families for CAPN6 Gene

Function for CAPN6 Gene

Molecular function for CAPN6 Gene

GENATLAS Biochemistry: calpain,class C,large polypeptide,likely lacking a protease activity,papain superfamily,nCL-3 type,expressed only in placenta,homolog to C elegans sex determination gene tra3
UniProtKB/Swiss-Prot Function: Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).

Enzyme Numbers (IUBMB) for CAPN6 Gene

Gene Ontology (GO) - Molecular Function for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
GO:0005515 protein binding --
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with CAPN6: view
genes like me logo Genes that share phenotypes with CAPN6: view

Animal Models for CAPN6 Gene

MGI Knock Outs for CAPN6:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CAPN6 Gene

Localization for CAPN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN6 Gene

Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose associated with the mitotic spindle. At telophase colocalized to the midbody spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPN6 Gene COMPARTMENTS Subcellular localization image for CAPN6 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005874 microtubule --
GO:0005876 spindle microtubule IDA 17210638
GO:0048471 perinuclear region of cytoplasm IDA 17210638
genes like me logo Genes that share ontologies with CAPN6: view

Pathways for CAPN6 Gene

genes like me logo Genes that share pathways with CAPN6: view

Pathways by source for CAPN6 Gene

Gene Ontology (GO) - Biological Process for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation ISS --
GO:0006508 proteolysis IBA --
GO:0051493 regulation of cytoskeleton organization ISS --
genes like me logo Genes that share ontologies with CAPN6: view

Compounds for CAPN6 Gene

(9) ApexBio Compounds for CAPN6 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor. [123714-50-1]
Calpain Inhibitor I, ALLN A cell-permeable inhibitor of calpain I, calpain II, cathepsin B, and cathepsin L. [110044-82-1]
Calpain Inhibitor II, ALLM A cell-permeable inhibitor of calpain 1 and calpain 2. [136632-32-1]
Calpeptin Potent cathepsin L inhibitor [117591-20-5]
E-64 Irriversible cysteine protease inhibitor [66701-25-5]
MDL 28170 Potent, selective inhibitor of calpain and cathepsin B. [88191-84-8]
MG-132 Proteasome and calpain inhibitor. [133407-82-6]
PD 150606 Selective, cell-permeable non-peptide calpain inhibitor. [179528-45-1]
Z-FA-FMK An inhibitor of cysteine proteases, such as cathepsin B.

(5) Tocris Compounds for CAPN6 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor [123714-50-1]
MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
MG 101 Calpain inhibitor; activates p53-dependent apoptosis [110044-82-1]
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation [133407-82-6]
PD 150606 Cell permeable calpain inhibitor [179528-45-1]
genes like me logo Genes that share compounds with CAPN6: view

Transcripts for CAPN6 Gene

mRNA/cDNA for CAPN6 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(162) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CAPN6 Gene

Calpain 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - - - -
SP3: - - - - -
SP4: -
SP5:

Relevant External Links for CAPN6 Gene

GeneLoc Exon Structure for
CAPN6
ECgene alternative splicing isoforms for
CAPN6

Expression for CAPN6 Gene

mRNA expression in normal human tissues for CAPN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPN6 Gene

This gene is overexpressed in Uterus (10.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CAPN6 Gene

SOURCE GeneReport for Unigene cluster for CAPN6 Gene Hs.496593

mRNA Expression by UniProt/SwissProt for CAPN6 Gene

Q9Y6Q1-CAN6_HUMAN
Tissue specificity: Expressed only in placenta
genes like me logo Genes that share expressions with CAPN6: view

Orthologs for CAPN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPN6 35
  • 99.32 (n)
  • 99.06 (a)
CAPN6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAPN6 35
  • 91.63 (n)
  • 94.23 (a)
CAPN6 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN6 35
  • 92.98 (n)
  • 97.19 (a)
CAPN6 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capn6 35
  • 90.12 (n)
  • 95.16 (a)
Capn6 16
Capn6 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPN6 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN6 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn6 35
  • 90.28 (n)
  • 95.01 (a)
chicken
(Gallus gallus)
Aves CAPN6 35
  • 62.25 (n)
  • 54.6 (a)
CAPN6 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN6 36
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR847986.1 36
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tra-3 36
  • 35 (a)
OneToMany
tra-3 37
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3869 36
  • 26 (a)
OneToMany
Species with no ortholog for CAPN6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CAPN6 Gene

ENSEMBL:
Gene Tree for CAPN6 (if available)
TreeFam:
Gene Tree for CAPN6 (if available)

Paralogs for CAPN6 Gene

Selected SIMAP similar genes for CAPN6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CAPN6: view

Variants for CAPN6 Gene

Sequence variations from dbSNP and Humsavar for CAPN6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs11241 -- 111,245,973(-) CCCCC(A/C/G)ACAGT utr-variant-3-prime
rs926412 -- 111,250,789(+) GGTTG(A/T)TGAAT intron-variant
rs926413 -- 111,253,855(+) AGAAC(A/T)TTTCA intron-variant
rs926414 -- 111,254,186(+) CTAAG(A/G)AAGTT intron-variant
rs975687 -- 111,268,777(+) GAAAG(A/T)CTGTT intron-variant

Relevant External Links for CAPN6 Gene

HapMap Linkage Disequilibrium report
CAPN6
Locus Specific Mutation Databases (LSDB)
CAPN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CAPN6 Gene

Disorders for CAPN6 Gene

(3) Novoseek inferred disease relationships for CAPN6 Gene

Disease -log(P) Hits PubMed IDs
leiomyosarcoma 53.2 1
leiomyoma 52.8 1
tumors 0 3

Relevant External Links for CAPN6

Genetic Association Database (GAD)
CAPN6
Human Genome Epidemiology (HuGE) Navigator
CAPN6
genes like me logo Genes that share disorders with CAPN6: view

No data available for UniProtKB/Swiss-Prot for CAPN6 Gene

Publications for CAPN6 Gene

  1. A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PMID: 9339374) Dear T.N. … Boehm T. (Genomics 1997) 2 3 4 23
  2. Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PMID: 9503024) Matena K. … Dear N. (Genomics 1998) 2 3 23
  3. Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PMID: 17210638) Tonami K. … Kurihara H. (Mol. Cell. Biol. 2007) 3 4 23
  4. Calpain 6 supports tumorigenesis by inhibiting apoptosis and facilitating angiogenesis. (PMID: 18657900) Rho S.B. … Chun T. (Cancer Lett. 2008) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CAPN6 Gene

Sources for CAPN6 Gene

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