HYAL1

GENERAL INFORMATION

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Gene name

HYAL1

Gene description

Hyaluronoglucosaminidase 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (liver, spleen)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Thyroid gland, gastric mucosa, glial cells, female genitalia and most male genitalia showed moderate to strong cytoplasmic positivity. Remaining normal cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA002112
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (liver, spleen)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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)

50299889 - 50312381

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114378 (version 78.38)

Entrez gene

3373

UniProt

Q12794 (UniProt - Evidence at protein level)

neXtProt

NX_Q12794

Antibodypedia

HYAL1 antibodies


PROTEIN BROWSER

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ENST00000266031
 
ENST00000320295
 
ENST00000395143
 
ENST00000395144
 
ENST00000418723
 
ENST00000447605
 
ENST00000452672
 
ENST00000457214
 
ENST00000618175
 
 
 
 


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
HYAL1-201 ENSP00000477903
ENST00000618175
Q12794
Show all »
Show » Show » 435 48.4 Yes 0