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FLASH GENE

Symbol

SPRR3

contributors: shn - updated : 29-03-2011

HGNC name	small proline-rich protein 3
HGNC id	11268

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q21.3      Physical location : 152.974.222 - 152.976.331
Synonym name	22 kDa pancornulin
	cornifin beta
	esophagin
Synonym symbol(s)	SPRC, SPR3

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered in the epidermal differentiation complex (EDC)
	intragenic duplications that create a characteristic proline-rich repeats in the coding sequence, an alternative noncoding exon, and a 200-bp polypyrimidine tract in the promoter region
STRUCTURE	2.11 kb     2 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	open reading frame in a single exon
	OCT1, OCT3 and two CEBPB binding sites

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D1S2345 - D1S2343 - SPRR3 - D1S2346 - D1S2715 - tel

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001097589 (transcript variant 2) 2 splicing 918 NP_001091058 - 169 - - NM_005416 (transcript variant 1) 3 splicing 1002 NP_005407 - 169 - -

EXPRESSION

Type	restricted

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 esophagus         Digestive mouth tongue         pharynx         Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage	precursor of cornified cell envelope
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a central segment built up from eight octapeptide repeats, *K*PEP*

HOMOLOGY

interspecies	ortholog to Sprr3, Mus musculus
	ortholog to Sprr3, Rattus norvegicus
	ortholog to SPRR3, Pan troglodytes

Homologene

FAMILY

SPRR family of cornified envelope precursor proteins

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
text	cornifin

basic FUNCTION	cross-linked envelope protein of keratinocytes
	keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase
	function as a flexible cross-bridging protein to provide tensile strength or rigidity to the cell envelope of the stratified squamous epithelia

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

text	squamous cell differentiation

PATHWAY

metabolism

signaling

a component

clustered in the epidermal differentiation complex (EDC)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

induced by	the extracellular calcium (during esophageal epithelial cell differentiation)
		during squamous metaplasia induced by cigarette smoke exposure

Other

regulated by prolonged cyclic stress in vascular smooth muscle cells, which may have important implications to vascular disease

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in primary esophageal squamous cell carcinoma and in areas of cellular dysplasia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS