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UniProtKB - Q12794 (HYAL1_HUMAN)

Entry version 170 (17 Jun 2020)
Sequence version 2 (01 Mar 2001)
Previous versions | rss
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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%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 & Seán O’Donoghue; 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.
Related information in OMIM
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12794 Tbio

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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12794

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12794

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: a multi-organism proteome resource

More...ProteomicsDBi		58936 [Q12794-1]
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 liver and 89 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12794 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12794 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114378 Tissue enhanced (liver)

<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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109603, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q12794, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000266031

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q12794

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12794 protein

<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

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

More...SMRi		Q12794

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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		ENSGT00990000203627

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_036366_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12794

KEGG Orthology (KO)

More...KOi		K01197

Identification of Orthologs from Complete Genome Data

More...OMAi		GQCPLGI

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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.Curated
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.Curated
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.Curated
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.Curated
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.

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
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>
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>

<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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...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

More...PIRi		JC5584

NCBI Reference Sequences

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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

More...GeneIDi		3373

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3373

UCSC genome browser

More...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%5Freferences%5Fsection">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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

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

Protein-protein interaction databases

BioGRIDi109603, 9 interactors
IntActiQ12794, 8 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

jPOSTiQ12794
MassIVEiQ12794
MaxQBiQ12794
PaxDbiQ12794
PeptideAtlasiQ12794
PRIDEiQ12794
ProteomicsDBi58936 [Q12794-1]
58937 [Q12794-2]
58938 [Q12794-3]
58939 [Q12794-4]
58940 [Q12794-5]
58941 [Q12794-6]
58942 [Q12794-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1046 274 antibodies

The DNASU plasmid repository

More...DNASUi		3373

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

More...GeneCardsi		HYAL1
HGNCiHGNC:5320 HYAL1
HPAiENSG00000114378 Tissue enhanced (liver)
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
GeneTreeiENSGT00990000203627
HOGENOMiCLU_036366_0_0_1
InParanoidiQ12794
KOiK01197
OMAiGQCPLGI
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3373 1 hit in 786 CRISPR screens
EvolutionaryTraceiQ12794

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HYAL1

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

More...GenomeRNAii		3373
PharosiQ12794 Tbio

Protein Ontology

More...PROi		PR:Q12794
RNActiQ12794 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114378 Expressed in liver and 89 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: June 17, 2020
This is version 170 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, 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  7. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
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