HYAL3 hyaluronidase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HYAL3provided by HGNC
Official Full Name: hyaluronidase 3provided by HGNC
Primary source: HGNC:HGNC:5322
See related: Ensembl:ENSG00000186792 MIM:604038; AllianceGenome:HGNC:5322
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: LUCA3; HYAL-3; LUCA-3
Summary: This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
Expression: Broad expression in bone marrow (RPKM 11.6), testis (RPKM 6.6) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (50292832..50299405, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (50322188..50328761, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (50330263..50336836, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HYAL3 as a potential novel marker of BLCA patient prognosis.
Title: HYAL3 as a potential novel marker of BLCA patient prognosis.
Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.
Title: Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc.
the relative expression of hyalurosome (CD44, HAS3, HB-EGF) genes was found to be reduced in patients prior to topical treatment and to be notably increased following treatment.
Title: Hyalurosome gene regulation and dose-dependent restoration of skin atrophy by retinaldehyde and defined-size hyaluronate fragments in dermatoporosis.
mutations of the HYAL3 gene are rare in Chinese lung squamous cell carcinoma patients and might contribute to lymph node metastasis
Title: Analysis of HYAL3 gene mutations in Chinese lung squamous cell carcinoma patients.
polymorphisms in HYAL3 are potentially involved in glaucomatous neurodegeneration.
Title: Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.
Nodular basal cell carcinoma is associated with increased levels of hyaluronic acid concomitant with upregulation of gene expression of HAS3, HYAL3 and RHAMM, when compared with normal adjacent skin.
Title: Nodular basal cell carcinoma is associated with increased hyaluronan homeostasis.
Overexpression of HYAL3 is associated with colorectal cancer.
Title: Involvement of hyaluronidases in colorectal cancer.
Hyal3 null sperm showed delayed cumulus penetration and reduced acrosomal exocytosis.
Title: Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: evidence for a role for hyaluronidase 3 in mouse and human sperm.
Alternative mRNA splicing controls cellular expression of enzymatically active hyaluronidase.
Title: Regulation of hyaluronidase activity by alternative mRNA splicing.
Down-regulation of HYAL3 is associated with small cell lung cancer and glioma
Title: Expression and regulation patterns of hyaluronidases in small cell lung cancer and glioma lines.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4188 (e-PCR)
- UniSTS:25605

WIAF-2197 (e-PCR)
- UniSTS:10590

STS-U03056 (e-PCR)
- UniSTS:31885

SHGC-76997 (e-PCR)
- UniSTS:16549

G59589 (e-PCR)
- UniSTS:136893

RH80851 (e-PCR)
- UniSTS:85717

PMC26875P3 (e-PCR)
- UniSTS:272360

PMC26875P4 (e-PCR)
- UniSTS:272361

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyaluronoglucuronidase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables hyalurononglucosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
enables hyalurononglucosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables virus receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to UV-B	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in hyaluronan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hyaluronan catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ovarian follicle atresia	ISS Inferred from Sequence or Structural Similarity more info
involved_in penetration of zona pellucida	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of acrosomal vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to antibiotic	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to virus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: hyaluronidase-3

Names: hyaluronoglucosaminidase 3; lung carcinoma protein 3

NP_001186958.1

EC 3.2.1.35

NP_001186959.1

EC 3.2.1.35

NP_001186960.1

EC 3.2.1.35

NP_001186961.1

EC 3.2.1.35

NP_003540.2

EC 3.2.1.35

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001200029.2 → NP_001186958.1 hyaluronidase-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_001186958.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same protein (isoform 1).

Source sequence(s)

BC012892, DB269188, U90094

Consensus CDS

CCDS2815.1

UniProtKB/Swiss-Prot

O43820, O60540, Q8NFK2, Q8NFK3, Q8NFK4, Q96E56, Q9BRW9

UniProtKB/TrEMBL

B2R8P5

Related

ENSP00000479935.1, ENST00000621157.5

Conserved Domains (1) summary

pfam01630
Location:24 → 349

Glyco_hydro_56; Hyaluronidase
NM_001200030.2 → NP_001186959.1 hyaluronidase-3 isoform 2 precursor

See identical proteins and their annotated locations for NP_001186959.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as HYAL3-v1, lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AF036035, AF502909, DB319349

Consensus CDS

CCDS56257.1

UniProtKB/TrEMBL

B2R8P5

Related

ENSP00000391922.1, ENST00000450982.6

Conserved Domains (1) summary

pfam01630
Location:24 → 319

Glyco_hydro_56; Hyaluronidase
NM_001200031.2 → NP_001186960.1 hyaluronidase-3 isoform 3

See identical proteins and their annotated locations for NP_001186960.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as HYAL3-v2, initiates translation at an upstream start codon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AF036035, AF502910, DB319349

Consensus CDS

CCDS56260.1

UniProtKB/Swiss-Prot

O43820

Related

ENSP00000401092.1, ENST00000415204.5

Conserved Domains (1) summary

pfam01630
Location:3 → 100

Glyco_hydro_56; Hyaluronidase
NM_001200032.2 → NP_001186961.1 hyaluronidase-3 isoform 4

See identical proteins and their annotated locations for NP_001186961.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as HYAL3-v3, initiates translation at an upstream start codon and has multiple differences in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AF036035, AF502911, DB319349

Consensus CDS

CCDS56259.1

UniProtKB/Swiss-Prot

O43820

Related

ENSP00000424633.1, ENST00000513170.1

Conserved Domains (1) summary

pfam01630
Location:3 → 70

Glyco_hydro_56; Hyaluronidase
NM_003549.4 → NP_003540.2 hyaluronidase-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_003540.2

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as HYAL3-wt, represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 5 encode the same protein.

Source sequence(s)

AF036035

Consensus CDS

CCDS2815.1

UniProtKB/Swiss-Prot

O43820, O60540, Q8NFK2, Q8NFK3, Q8NFK4, Q96E56, Q9BRW9

UniProtKB/TrEMBL

B2R8P5

Related

ENSP00000337425.1, ENST00000336307.6

Conserved Domains (1) summary

pfam01630
Location:24 → 349

Glyco_hydro_56; Hyaluronidase