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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

Location	19q13.13      Physical location : 36.630.917 - 36.641.254
Synonym name	calpain,common, small polypeptide,nCL-1 type
	calpain 4, small subunit (30K)
	calcium-activated neutral proteinase small subunit
Synonym symbol(s)	30K, CANP, CDPS, CANPS, CAPN4, CALPAIN4, CSS1
EC.number	3.4.22.17

DNA

TYPE	functioning gene
STRUCTURE	10.00 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	three so-called G-C box sequences and one G-C box-like sequence
	Sp1-, NRF-1-, and AP-1-binding elements within the core promoter

MAPPING

cloned

Y

linked

status

provisional

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)