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FLASH GENE

Symbol

HYAL1

contributors: mct/npt - updated : 10-06-2009

HGNC name	hyaluronoglucosaminidase 1
HGNC id	5320

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MPS9 mucopolysaccharidosis type IX
Location	3p21.31      Physical location : 50.337.320 - 50.349.812
Synonym name	tumor suppressor LUCA-1
	plasma hyaluronidase
	hyaluronidase 1
Synonym symbol(s)	LUCA1, NAT6, HYAL-1, MGC45987, FUS2
EC.number	3.2.1.35

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with HYAL2 and HYAL3
STRUCTURE	12.49 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	the same protein is produced by both variants

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007312 3 splicing 2518 NP_009296 48.3 435 - Frost, Franzmann, Lokeshwar (2008) lacks a 30-amino acid sequence that is present in HYAL1 may negatively regulate bladder tumor growth, infiltration, and angiogenesis (Lokeshwar 2006) NM_153282 3 splicing 1985 NP_695014 48.3 405 - Frost, Franzmann, Lokeshwar (2008) NM_153283 4 splicing 1718 NP_695015 28 253 - Franzmann, Lokeshwar (2008) variant 4 - splicing 1738 isoform 4 23.3 209 - Franzmann NM_153285 4 splicing 1300 NP_695017 19.3 176 - Franzmann, Lokeshwar (2008) variant 6 - splicing 1151 isoform 6 10.4 96 - Franzmann NM_033159 4 splicing 2075 NP_149349 - 435 - Franzmann, Lokeshwar (2008) NM_153281 6 splicing 2370 NP_695013 48.3 435 - Franzmann, Lokeshwar (2008)

EXPRESSION

Type

widely

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       highly Digestive stomach         Endocrine adrenal gland           pancreas         Lymphoid/Immune spleen       highly Reproductive female system uterus cervix   highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

physiological period

embryo

Text	kidney and somatic tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a catalytic domain that adopts a distorted (beta/alpha)8 barrel resembling that of bee venom hyaluronidase
	a novel, EGF-like domain, characteristic of involvement in protein-protein interactions and regulatory processes (Chao 2007)
	acetyltransferase (GNAT) and proline-rich domains
	acidic site and tyrosine residues
	C-terminal epidermal growth factor-like domain

HOMOLOGY

interspecies

homolog to murine Hyal1

Homologene

FAMILY

glycosyl hydrolase 56 family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lysosome
text	vacuole

basic FUNCTION	involved in glycosaminoglycan catabolism
	also involved in cell migration during embryonic development
	its activity requires active site acidic and tyrosine residues (Zhang 2009)
	involved in the angiogenic and invasive front of tumors
	degrade hyaluronic acid, which promotes metastasis and and is an independent prognostic indicator of prostate cancer progression and a biomarker for bladder cancer
	implicated in cancer proliferation, angiogenesis, and inflammatory diseases (Chao 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

an acidic pH

Other

epigenetically regulated by the binding of different transcription factors to the methylated and unmethylated HYAL1 promoter (Lokeshwar 2008)

ASSOCIATED DISORDERS

corresponding disease(s)

MPS9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in bladder and prostate cancer cells (Lokeshwar 2008) tumoral       loss of function inactivated in head and neck squamous cell carcinomas by aberrant splicing premRNA tumoral     --over   in advanced stages of bladder cancer (Chao 2007)

Susceptibility

Variant & Polymorphism

Candidate gene	marker for cancer diagnosis and a molecular determinant of tumor growth, invasion, and angiogenesis (Lokeswahr 2008)
Marker
Therapy target	anti-hyaluronidase and high-hyaluronidase treatments for cancer

ANIMAL & CELL MODELS