HYAL1

GENE INFORMATION

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Gene name

HYAL1 (HGNC Symbol)

Synonyms

FUS2, HYAL-1, LUCA1, NAT6

Description

Hyaluronoglucosaminidase 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p21.31

Chromosome location (bp)

50337320 - 50349812

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114378 (version 75.37)

Entrez gene

3373

UniProt

Q12794 (UniProt - Evidence at protein level)

neXtProt

NX_Q12794

Antibodypedia

HYAL1 antibodies
 

PROTEIN VIEW

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HYAL1-001
 
HYAL1-002
 
HYAL1-003
 
HYAL1-004
 
HYAL1-005
 
HYAL1-006
 
HYAL1-007
 
HYAL1-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HYAL1-001 ENSP00000378576
ENST00000395144
Q12794
Show all »
Show » Show » 435 48.4 Yes 0
HYAL1-002 ENSP00000378575
ENST00000395143
Q12794
Show all »
Show » Show » 405 45.1 Yes 0
HYAL1-003 ENSP00000393358
ENST00000457214
Q12794
Show all »
Show » Show » 253 28 No 0
HYAL1-004 ENSP00000390149
ENST00000447605
Q12794
Show all »
Show » Show » 176 19.4 No 0
HYAL1-005 ENSP00000266031
ENST00000266031
Q12794
Show all »
Show » Show » 435 48.4 Yes 0
HYAL1-006 ENSP00000346068
ENST00000320295
Q12794
Show all »
Show » Show » 435 48.4 Yes 0
HYAL1-007 ENSP00000394526
ENST00000418723
C9JRK1
Show all »
Show » Show » 103 11.3 Yes 0
HYAL1-008 ENSP00000391666
ENST00000452672
C9JB49
Show all »
Show » Show » 69 7.6 Yes 0