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FLASH GENE

Symbol

CAPNS1

contributors: mct/npt - updated : 01-04-2008

HGNC name	calpain, small subunit 1
HGNC id	1481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1492 28.3 268 - Stelzl (2005) variant 2 - - 1489 - 268 - Stelzl (2005)

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Nervous nerve       highly Reproductive female system uterus       Respiratory respiratory tract larynx     highly Skin/Tegument skin         Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	a N terminal regulatory domain processed after activation (i)
	a cysteine protease domain (II)
	a linker domain (III)
	four calcium binding domains with calmodulin-like EF hand motifs (IV)
	two nuclear localization signals (NLS)
	a gly-rich hydrophobic domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Capns1

Homologene

FAMILY

papain superfamily, nCL-1 type

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	translocated to the plasma membrane upon Ca2+ binding

basic FUNCTION	calcium dependent intracellular neutral cysteine proteinase (non lysosomal)
	required to maintain stability and activity of both calpains

CELLULAR PROCESS	cell life, proliferation/growth
	protein, degradation

PHYSIOLOGICAL PROCESS

nervous system

text	neurodegenerative processes implication
	positive control of cell proliferation

PATHWAY

metabolism

signaling

a component

heterodimerazing with CAPN1, CAPN2

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

first protease to be identified and validated as a transcriptional target of NRF1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to myotonic dystrophy and neurodegenerative processes

Variant & Polymorphism SNP

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Capn4 knockout mice (Arthur,2000)