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FLASH GENE

Symbol

HAPLN1

contributors: mct/npt - updated : 19-01-2010

HGNC name	hyaluronan and proteoglycan link protein 1
HGNC id	2380

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q14.3      Physical location : 82.934.017 - 83.016.896
Synonym name	cartilage linking protein 1
Synonym symbol(s)	CRTL1, CLP1, CLP

DNA

TYPE	anonymous DNA segment
STRUCTURE	82.88 kb     5 Exon(s)

regulatory sequence	Binding site   enhancer
text structure	two cis-acting enhancer elements resided in the 5'-untranslated region: one contained a heptameric SOX binding sequence and showed SOX9-dependent enhancer activity in several cell lines; the other showed cell type-specific SOX9-independent enhancer activity

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001884 5 - 4678 NP_001875 - 354 - Seyfried (2005)

EXPRESSION

Type	restricted

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 Cardiovascular heart         Digestive intestine small intestine       Hearing/Equilibrium ear         Reproductive female system placenta       Respiratory respiratory tract trachea       Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, embryonic tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an immunoglobulin like-V-type
	two link domains
	a SP-IgV domain increasing tumorigenic properties of mesothelioma (Ivanova 2009)

HOMOLOGY

interspecies

homolog to murine Crtl1

Homologene

FAMILY

HAPLN family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	enhancer elements may mediate differential expression during chondrocyte differentiation and maturation

basic FUNCTION	stabilization of the aggregates of aggrecan and hyaluroman with hyaluronic acid in the extracellular cartilage matrix
	playing a role in the organization of extracellular matrix in a number of tissues, possibly interacting with other proteoglycans, such as versican, brevican, and neurocan
	stabilizes the interaction between hyaluronan (HA) and versican, two extracellular matrix components essential for cardiac development (Wirrig 2007)
	may play an important role in heart development (Wirrig 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	bone development and maintenance

PATHWAY

metabolism

signaling

a component

extracellular matrix compoment

INTERACTION

DNA

RNA

small molecule

protein

interacting with the G1-domains of aggrecan in the absence or presence of Hyaluronan (Seyfried 2005)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in the majority of mesotheliomas (Ivanova 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	targeting the SP-IgV domain may be one of the therapeutic approaches in mesothelioma treatment (Ivanova 2009)

ANIMAL & CELL MODELS

Crtl1-deficient mouse revealed a spectrum of cardiac malformations, including AV septal and myocardial defects, while expression studies showed a significant reduction in versican levels (Wirrig 2007)