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Protein

Hyaluronidase-1

Gene

HYAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. EC:3.2.1.35

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is about 3.8.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei131Proton donorCurated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03763-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.35 2681
4.2.2.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2024101 CS/DS degradation
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-2206280 MPS IX - Natowicz syndrome

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q12794

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH56 Glycoside Hydrolase Family 56

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hyaluronidase-1 (EC:3.2.1.35)
Short name:
Hyal-1
Alternative name(s):
Hyaluronoglucosaminidase-1
Lung carcinoma protein 1
Short name:
LuCa-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HYAL1
Synonyms:LUCA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000114378.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5320 HYAL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607071 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12794

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mucopolysaccharidosis 9 (MPS9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.
See also OMIM:601492
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023643268E → K in MPS9. 1 PublicationCorresponds to variant dbSNP:rs104893743EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
3373

MalaCards human disease database

More...
MalaCardsi
HYAL1
MIMi601492 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000114378

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
67041 Hyaluronidase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29571

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4528

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HYAL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74735617

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004262222 – 435Hyaluronidase-1Add BLAST414

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi43 ↔ 3331 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi99N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi207 ↔ 2211 Publication
Glycosylationi216N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi350N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi358 ↔ 3691 Publication
Disulfide bondi363 ↔ 4181 Publication
Disulfide bondi420 ↔ 4291 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q12794

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q12794

PeptideAtlas

More...
PeptideAtlasi
Q12794

PRoteomics IDEntifications database

More...
PRIDEi
Q12794

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58936
58937 [Q12794-2]
58938 [Q12794-3]
58939 [Q12794-4]
58940 [Q12794-5]
58941 [Q12794-6]
58942 [Q12794-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12794

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q12794

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114378 Expressed in 90 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12794 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12794 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002112

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109603, 8 interactors

Protein interaction database and analysis system

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IntActi
Q12794, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000266031

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q12794

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1435
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q12794

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q12794

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q12794

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini354 – 430EGF-likeAdd BLAST77

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 56 family.Curated

Keywords - Domaini

EGF-like domain, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IECJ Eukaryota
ENOG410XPZT LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154188

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052053

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12794

KEGG Orthology (KO)

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KOi
K01197

Identification of Orthologs from Complete Genome Data

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OMAi
PVLPYAQ

Database of Orthologous Groups

More...
OrthoDBi
EOG091G064G

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12794

TreeFam database of animal gene trees

More...
TreeFami
TF321598

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.20.20.70, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013785 Aldolase_TIM
IPR017853 Glycoside_hydrolase_SF
IPR018155 Hyaluronidase

The PANTHER Classification System

More...
PANTHERi
PTHR11769 PTHR11769, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01630 Glyco_hydro_56, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF038193 Hyaluronidase, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00846 GLHYDRLASE56

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01186 EGF_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12794-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD
60 70 80 90 100
VDVSVFDVVA NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA
110 120 130 140 150
SLIAHLARTF QDILAAIPAP DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR
160 170 180 190 200
SRALVQAQHP DWPAPQVEAV AQDQFQGAAR AWMAGTLQLG RALRPRGLWG
210 220 230 240 250
FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR ALYPSIYMPA
260 270 280 290 300
VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL
310 320 330 340 350
DELEHSLGES AAQGAAGVVL WVSWENTRTK ESCQAIKEYM DTTLGPFILN
360 370 380 390 400
VTSGALLCSQ ALCSGHGRCV RRTSHPKALL LLNPASFSIQ LTPGGGPLSL
410 420 430
RGALSLEDQA QMAVEFKCRC YPGWQAPWCE RKSMW
Length:435
Mass (Da):48,368
Last modified:March 1, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9C2B2D8DB361E0BB
GO
Isoform 2 (identifier: Q12794-2) [UniParc]FASTAAdd to basket
Also known as: HYAl1v1

The sequence of this isoform differs from the canonical sequence as follows:
     301-330: Missing.

Note: Enzymatically inactive.
Show »
Length:405
Mass (Da):45,145
Checksum:iC24DAD360D9CF032
GO
Isoform 3 (identifier: Q12794-3) [UniParc]FASTAAdd to basket
Also known as: HYAl1v2

The sequence of this isoform differs from the canonical sequence as follows:
     1-182: Missing.

Note: Enzymatically inactive.
Show »
Length:253
Mass (Da):27,958
Checksum:i441C0DB43301E03F
GO
Isoform 4 (identifier: Q12794-4) [UniParc]FASTAAdd to basket
Also known as: HYAl1v3

The sequence of this isoform differs from the canonical sequence as follows:
     208-209: YN → SG
     210-435: Missing.

Note: Enzymatically inactive.
Show »
Length:209
Mass (Da):23,338
Checksum:i5C1046F8199F3BFF
GO
Isoform 5 (identifier: Q12794-5) [UniParc]FASTAAdd to basket
Also known as: HYAl1v4

The sequence of this isoform differs from the canonical sequence as follows:
     1-259: Missing.

Note: Enzymatically inactive.
Show »
Length:176
Mass (Da):19,367
Checksum:i75F674283B175FDD
GO
Isoform 6 (identifier: Q12794-6) [UniParc]FASTAAdd to basket
Also known as: HYAl1v5

The sequence of this isoform differs from the canonical sequence as follows:
     1-339: Missing.

Note: Enzymatically inactive.
Show »
Length:96
Mass (Da):10,435
Checksum:i70AD570E4305A4E8
GO
Isoform 7 (identifier: Q12794-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-336: ESCQAI → VSLGLA
     337-435: Missing.

Note: No experimental confirmation available.
Show »
Length:336
Mass (Da):37,439
Checksum:i7D19178001F20E51
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JRK1C9JRK1_HUMAN
Hyaluronidase
HYAL1
103Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JB49C9JB49_HUMAN
Hyaluronidase
HYAL1
69Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH25774 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti3A → G in CAG46731 (Ref. 6) Curated1
Sequence conflicti191R → G in AAD53277 (PubMed:8603390).Curated1
Sequence conflicti300L → Q in AAD24460 (PubMed:10702795).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023643268E → K in MPS9. 1 PublicationCorresponds to variant dbSNP:rs104893743EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0159151 – 339Missing in isoform 6. 1 PublicationAdd BLAST339
Alternative sequenceiVSP_0159161 – 259Missing in isoform 5. 1 PublicationAdd BLAST259
Alternative sequenceiVSP_0159171 – 182Missing in isoform 3. 1 PublicationAdd BLAST182
Alternative sequenceiVSP_015918208 – 209YN → SG in isoform 4. 1 Publication2
Alternative sequenceiVSP_015919210 – 435Missing in isoform 4. 1 PublicationAdd BLAST226
Alternative sequenceiVSP_015920301 – 330Missing in isoform 2. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_015921331 – 336ESCQAI → VSLGLA in isoform 7. 1 Publication6
Alternative sequenceiVSP_015922337 – 435Missing in isoform 7. 1 PublicationAdd BLAST99

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U03056 mRNA Translation: AAD09137.2
U96078 mRNA Translation: AAD04190.1
AF118821 mRNA Translation: AAD24460.1
AF502904 mRNA Translation: AAM60770.1
AF502905 mRNA Translation: AAM60771.1
AF502906 mRNA Translation: AAM60772.1
AF502907 mRNA Translation: AAM60773.1
AF502908 mRNA Translation: AAM60774.1
AF173154 mRNA Translation: AAD53277.1
CR541933 mRNA Translation: CAG46731.1
AC002455 Genomic DNA Translation: AAB67046.1
U73167 Genomic DNA Translation: AAC02730.1
BC025774 mRNA Translation: AAH25774.1 Different initiation.
BC035695 mRNA Translation: AAH35695.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2816.1 [Q12794-1]
CCDS2817.1 [Q12794-2]
CCDS46832.1 [Q12794-3]
CCDS46833.1 [Q12794-5]

Protein sequence database of the Protein Information Resource

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PIRi
JC5584

NCBI Reference Sequences

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RefSeqi
NP_149349.2, NM_033159.3 [Q12794-1]
NP_695013.1, NM_153281.1 [Q12794-1]
NP_695014.1, NM_153282.2 [Q12794-2]
NP_695015.1, NM_153283.2 [Q12794-3]
NP_695017.1, NM_153285.2 [Q12794-5]
XP_011531969.1, XM_011533667.2 [Q12794-1]
XP_011531970.1, XM_011533668.2 [Q12794-1]
XP_011531971.1, XM_011533669.2 [Q12794-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.75619

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000266031; ENSP00000266031; ENSG00000114378 [Q12794-1]
ENST00000320295; ENSP00000346068; ENSG00000114378 [Q12794-1]
ENST00000395143; ENSP00000378575; ENSG00000114378 [Q12794-2]
ENST00000395144; ENSP00000378576; ENSG00000114378 [Q12794-1]
ENST00000447605; ENSP00000390149; ENSG00000114378 [Q12794-5]
ENST00000457214; ENSP00000393358; ENSG00000114378 [Q12794-3]
ENST00000618175; ENSP00000477903; ENSG00000114378 [Q12794-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3373

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3373

UCSC genome browser

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UCSCi
uc003czm.5 human [Q12794-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03056 mRNA Translation: AAD09137.2
U96078 mRNA Translation: AAD04190.1
AF118821 mRNA Translation: AAD24460.1
AF502904 mRNA Translation: AAM60770.1
AF502905 mRNA Translation: AAM60771.1
AF502906 mRNA Translation: AAM60772.1
AF502907 mRNA Translation: AAM60773.1
AF502908 mRNA Translation: AAM60774.1
AF173154 mRNA Translation: AAD53277.1
CR541933 mRNA Translation: CAG46731.1
AC002455 Genomic DNA Translation: AAB67046.1
U73167 Genomic DNA Translation: AAC02730.1
BC025774 mRNA Translation: AAH25774.1 Different initiation.
BC035695 mRNA Translation: AAH35695.1
CCDSiCCDS2816.1 [Q12794-1]
CCDS2817.1 [Q12794-2]
CCDS46832.1 [Q12794-3]
CCDS46833.1 [Q12794-5]
PIRiJC5584
RefSeqiNP_149349.2, NM_033159.3 [Q12794-1]
NP_695013.1, NM_153281.1 [Q12794-1]
NP_695014.1, NM_153282.2 [Q12794-2]
NP_695015.1, NM_153283.2 [Q12794-3]
NP_695017.1, NM_153285.2 [Q12794-5]
XP_011531969.1, XM_011533667.2 [Q12794-1]
XP_011531970.1, XM_011533668.2 [Q12794-1]
XP_011531971.1, XM_011533669.2 [Q12794-1]
UniGeneiHs.75619

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PE4X-ray2.00A22-435[»]
ProteinModelPortaliQ12794
SMRiQ12794
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109603, 8 interactors
IntActiQ12794, 2 interactors
STRINGi9606.ENSP00000266031

Chemistry databases

BindingDBiQ12794
ChEMBLiCHEMBL4528

Protein family/group databases

CAZyiGH56 Glycoside Hydrolase Family 56

PTM databases

iPTMnetiQ12794
PhosphoSitePlusiQ12794

Polymorphism and mutation databases

BioMutaiHYAL1
DMDMi74735617

Proteomic databases

MaxQBiQ12794
PaxDbiQ12794
PeptideAtlasiQ12794
PRIDEiQ12794
ProteomicsDBi58936
58937 [Q12794-2]
58938 [Q12794-3]
58939 [Q12794-4]
58940 [Q12794-5]
58941 [Q12794-6]
58942 [Q12794-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3373
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266031; ENSP00000266031; ENSG00000114378 [Q12794-1]
ENST00000320295; ENSP00000346068; ENSG00000114378 [Q12794-1]
ENST00000395143; ENSP00000378575; ENSG00000114378 [Q12794-2]
ENST00000395144; ENSP00000378576; ENSG00000114378 [Q12794-1]
ENST00000447605; ENSP00000390149; ENSG00000114378 [Q12794-5]
ENST00000457214; ENSP00000393358; ENSG00000114378 [Q12794-3]
ENST00000618175; ENSP00000477903; ENSG00000114378 [Q12794-1]
GeneIDi3373
KEGGihsa:3373
UCSCiuc003czm.5 human [Q12794-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3373
DisGeNETi3373
EuPathDBiHostDB:ENSG00000114378.16

GeneCards: human genes, protein and diseases

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GeneCardsi
HYAL1
HGNCiHGNC:5320 HYAL1
HPAiHPA002112
MalaCardsiHYAL1
MIMi601492 phenotype
607071 gene
neXtProtiNX_Q12794
OpenTargetsiENSG00000114378
Orphaneti67041 Hyaluronidase deficiency
PharmGKBiPA29571

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IECJ Eukaryota
ENOG410XPZT LUCA
GeneTreeiENSGT00940000154188
HOVERGENiHBG052053
InParanoidiQ12794
KOiK01197
OMAiPVLPYAQ
OrthoDBiEOG091G064G
PhylomeDBiQ12794
TreeFamiTF321598

Enzyme and pathway databases

BioCyciMetaCyc:HS03763-MONOMER
BRENDAi3.2.1.35 2681
4.2.2.1 2681
ReactomeiR-HSA-2024101 CS/DS degradation
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-2206280 MPS IX - Natowicz syndrome
SIGNORiQ12794

Miscellaneous databases

EvolutionaryTraceiQ12794

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HYAL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3373

Protein Ontology

More...
PROi
PR:Q12794

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114378 Expressed in 90 organ(s), highest expression level in liver
ExpressionAtlasiQ12794 baseline and differential
GenevisibleiQ12794 HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR017853 Glycoside_hydrolase_SF
IPR018155 Hyaluronidase
PANTHERiPTHR11769 PTHR11769, 1 hit
PfamiView protein in Pfam
PF01630 Glyco_hydro_56, 1 hit
PIRSFiPIRSF038193 Hyaluronidase, 1 hit
PRINTSiPR00846 GLHYDRLASE56
SUPFAMiSSF51445 SSF51445, 1 hit
PROSITEiView protein in PROSITE
PS01186 EGF_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHYAL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12794
Secondary accession number(s): Q6FH23
, Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: March 1, 2001
Last modified: December 5, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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