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HYAL1 hyaluronidase 1 [ Homo sapiens (human) ]

Gene ID: 3373, updated on 12-Aug-2018

Summary

Official Symbol
HYAL1provided by HGNC
Official Full Name
hyaluronidase 1provided by HGNC
Primary source
HGNC:HGNC:5320
See related
Ensembl:ENSG00000114378 MIM:607071; Vega:OTTHUMG00000156941
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPS9; NAT6; LUCA1; HYAL-1
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]
Expression
Biased expression in liver (RPKM 19.6), spleen (RPKM 16.7) and 10 other tissues See more
Orthologs

Genomic context

See HYAL1 in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (50299889..50312951, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50337320..50349812, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene interferon related developmental regulator 2 Neighboring gene hyaluronidase 3 Neighboring gene N(alpha)-acetyltransferase 80, NatH catalytic subunit Neighboring gene hyaluronidase 2 Neighboring gene tumor suppressor 2, mitochondrial calcium regulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hyaluronan synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
hyalurononglucosaminidase activity IDA
Inferred from Direct Assay
more info
PubMed 
hyalurononglucosaminidase activity TAS
Traceable Author Statement
more info
 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT virus receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cartilage development IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to UV-B IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to fibroblast growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to interleukin-1 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to pH IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to platelet-derived growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to tumor necrosis factor IEP
Inferred from Expression Pattern
more info
PubMed 
chondroitin sulfate catabolic process TAS
Traceable Author Statement
more info
 
embryonic skeletal joint morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hyaluronan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
hyaluronan catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
hyaluronan catabolic process TAS
Traceable Author Statement
more info
 
hyaluronan metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hyaluranon cable assembly IDA
Inferred from Direct Assay
more info
PubMed 
response to antibiotic IDA
Inferred from Direct Assay
more info
PubMed 
response to reactive oxygen species IDA
Inferred from Direct Assay
more info
PubMed 
response to virus IDA
Inferred from Direct Assay
more info
PubMed 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
hyaluranon cable IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hyaluronidase-1
Names
hyaluronoglucosaminidase 1
luCa-1
lung carcinoma protein 1
plasma hyaluronidase
tumor suppressor LUCA-1
NP_149349.2
NP_695013.1
NP_695014.1
NP_695015.1
NP_695017.1
XP_011531969.1
XP_011531970.1
XP_011531971.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009295.1 RefSeqGene

    Range
    5001..17493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033159.3NP_149349.2  hyaluronidase-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_149349.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 8. Variants 7 and 8 both encode the same isoform (1).
    Source sequence(s)
    BC035695, DA566755
    Consensus CDS
    CCDS2816.1
    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A024R2X3
    Related
    ENSP00000378576.2, OTTHUMP00000211071, ENST00000395144.6, OTTHUMT00000346699
    Conserved Domains (1) summary
    pfam01630
    Location:25351
    Glyco_hydro_56; Hyaluronidase
  2. NM_153281.1NP_695013.1  hyaluronidase-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_695013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (1). Variants 7 and 8 both encode the same isoform (1).
    Source sequence(s)
    AK097287, BC035695
    Consensus CDS
    CCDS2816.1
    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A024R2X3, B3KUI5
    Related
    ENSP00000346068.5, OTTHUMP00000211076, ENST00000320295.12, OTTHUMT00000346704
    Conserved Domains (1) summary
    pfam01630
    Location:25351
    Glyco_hydro_56; Hyaluronidase
  3. NM_153282.2NP_695014.1  hyaluronidase-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_695014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 8. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF502904, BC035695, DA566755
    Consensus CDS
    CCDS2817.1
    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A0S2Z3Q0
    Related
    ENSP00000378575.2, OTTHUMP00000211072, ENST00000395143.6, OTTHUMT00000346700
    Conserved Domains (1) summary
    pfam01630
    Location:25321
    Glyco_hydro_56; Hyaluronidase
  4. NM_153283.2NP_695015.1  hyaluronidase-1 isoform 3

    See identical proteins and their annotated locations for NP_695015.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of a coding exon compared to variant 8. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF502905, BC035695, DA566755
    Consensus CDS
    CCDS46832.1
    UniProtKB/Swiss-Prot
    Q12794
    Related
    ENSP00000393358.2, OTTHUMP00000211073, ENST00000457214.6, OTTHUMT00000346701
    Conserved Domains (1) summary
    pfam01630
    Location:1169
    Glyco_hydro_56; Hyaluronidase
  5. NM_153285.2NP_695017.1  hyaluronidase-1 isoform 5

    See identical proteins and their annotated locations for NP_695017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal segment including a part of the 5' UTR and a part of the coding region, as compared to variant 8. The resulting isoform (5) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF502907, BC035695, DA566755
    Consensus CDS
    CCDS46833.1
    UniProtKB/Swiss-Prot
    Q12794
    Related
    ENSP00000390149.2, OTTHUMP00000211074, ENST00000447605.2, OTTHUMT00000346702
    Conserved Domains (1) summary
    pfam01630
    Location:192
    Glyco_hydro_56; Hyaluronidase

RNA

  1. NR_047690.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 8. This variant contains a 75 aa upstream open reading frame with a strong Kozak signal, so this transcript is thought to be non-protein coding.
    Source sequence(s)
    BC035695, DA566755, U03056

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    50299889..50312951 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533669.2XP_011531971.1  hyaluronidase-1 isoform X1

    See identical proteins and their annotated locations for XP_011531971.1

    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A024R2X3
    Conserved Domains (1) summary
    pfam01630
    Location:25351
    Glyco_hydro_56; Hyaluronidase
  2. XM_011533667.2XP_011531969.1  hyaluronidase-1 isoform X1

    See identical proteins and their annotated locations for XP_011531969.1

    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A024R2X3
    Conserved Domains (1) summary
    pfam01630
    Location:25351
    Glyco_hydro_56; Hyaluronidase
  3. XM_011533668.2XP_011531970.1  hyaluronidase-1 isoform X1

    See identical proteins and their annotated locations for XP_011531970.1

    UniProtKB/Swiss-Prot
    Q12794
    UniProtKB/TrEMBL
    A0A024R2X3
    Related
    ENSP00000477903.1, ENST00000618175.4
    Conserved Domains (1) summary
    pfam01630
    Location:25351
    Glyco_hydro_56; Hyaluronidase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153284.1: Suppressed sequence

    Description
    NM_153284.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
  2. NM_153286.1: Suppressed sequence

    Description
    NM_153286.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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