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Q92819

- HYAS2_HUMAN

UniProt

Q92819 - HYAS2_HUMAN

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Protein

Hyaluronan synthase 2

Gene

HAS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix (By similarity).By similarity

Catalytic activityi

UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan).
UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan).

Cofactori

Magnesium.

Pathwayi

GO - Molecular functioni

  1. hyaluronan synthase activity Source: UniProtKB

GO - Biological processi

  1. atrioventricular canal development Source: UniProtKB
  2. bone morphogenesis Source: Ensembl
  3. cellular response to fluid shear stress Source: BHF-UCL
  4. cellular response to interleukin-1 Source: BHF-UCL
  5. cellular response to platelet-derived growth factor stimulus Source: UniProtKB
  6. cellular response to tumor necrosis factor Source: BHF-UCL
  7. endocardial cushion to mesenchymal transition Source: UniProtKB
  8. extracellular matrix assembly Source: UniProtKB
  9. extracellular polysaccharide biosynthetic process Source: UniProtKB
  10. hyaluronan biosynthetic process Source: UniProtKB
  11. kidney development Source: UniProtKB
  12. positive regulation of cell migration Source: BHF-UCL
  13. positive regulation of cell proliferation Source: BHF-UCL
  14. positive regulation of monocyte aggregation Source: BHF-UCL
  15. positive regulation of urine volume Source: UniProtKB
  16. renal water absorption Source: UniProtKB
  17. vasculogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.212. 2681.
ReactomeiREACT_121301. Hyaluronan biosynthesis and export.
UniPathwayiUPA00341.

Protein family/group databases

CAZyiGT2. Glycosyltransferase Family 2.

Names & Taxonomyi

Protein namesi
Recommended name:
Hyaluronan synthase 2 (EC:2.4.1.212)
Alternative name(s):
Hyaluronate synthase 2
Hyaluronic acid synthase 2
Short name:
HA synthase 2
Gene namesi
Name:HAS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:4819. HAS2.

Subcellular locationi

GO - Cellular componenti

  1. integral component of plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving HAS2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal rearrangement with PLAG1.

Organism-specific databases

PharmGKBiPA29195.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 552552Hyaluronan synthase 2PRO_0000197173Add
BLAST

Proteomic databases

PaxDbiQ92819.
PRIDEiQ92819.

PTM databases

PhosphoSiteiQ92819.

Expressioni

Tissue specificityi

Expressed in fibroblasts.

Gene expression databases

BgeeiQ92819.
CleanExiHS_HAS2.
GenevestigatoriQ92819.

Interactioni

Protein-protein interaction databases

BioGridi109287. 3 interactions.
STRINGi9606.ENSP00000306991.

Structurei

3D structure databases

ProteinModelPortaliQ92819.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1111CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini33 – 4513ExtracellularSequence AnalysisAdd
BLAST
Topological domaini67 – 374308CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini396 – 4027ExtracellularSequence Analysis
Topological domaini424 – 4296CytoplasmicSequence Analysis
Topological domaini451 – 47525ExtracellularSequence AnalysisAdd
BLAST
Topological domaini497 – 51014CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini532 – 55221ExtracellularSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei12 – 3221Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei46 – 6621Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei375 – 39521Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei403 – 42321Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei430 – 45021Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei476 – 49621Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei511 – 53121Helical; Name=7Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the NodC/HAS family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1215.
GeneTreeiENSGT00390000010337.
HOGENOMiHOG000112847.
HOVERGENiHBG000189.
InParanoidiQ92819.
KOiK00752.
OMAiHYDMVLD.
OrthoDBiEOG77WWBZ.
PhylomeDBiQ92819.
TreeFamiTF332506.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR026107. HAS/NodC.
IPR028371. HAS2.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR22913. PTHR22913. 1 hit.
PTHR22913:SF7. PTHR22913:SF7. 1 hit.
SUPFAMiSSF53448. SSF53448. 2 hits.

Sequencei

Sequence statusi: Complete.

Q92819-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MHCERFLCIL RIIGTTLFGV SLLLGITAAY IVGYQFIQTD NYYFSFGLYG
60 70 80 90 100
AFLASHLIIQ SLFAFLEHRK MKKSLETPIK LNKTVALCIA AYQEDPDYLR
110 120 130 140 150
KCLQSVKRLT YPGIKVVMVI DGNSEDDLYM MDIFSEVMGR DKSATYIWKN
160 170 180 190 200
NFHEKGPGET DESHKESSQH VTQLVLSNKS ICIMQKWGGK REVMYTAFRA
210 220 230 240 250
LGRSVDYVQV CDSDTMLDPA SSVEMVKVLE EDPMVGGVGG DVQILNKYDS
260 270 280 290 300
WISFLSSVRY WMAFNIERAC QSYFGCVQCI SGPLGMYRNS LLHEFVEDWY
310 320 330 340 350
NQEFMGNQCS FGDDRHLTNR VLSLGYATKY TARSKCLTET PIEYLRWLNQ
360 370 380 390 400
QTRWSKSYFR EWLYNAMWFH KHHLWMTYEA IITGFFPFFL IATVIQLFYR
410 420 430 440 450
GKIWNILLFL LTVQLVGLIK SSFASCLRGN IVMVFMSLYS VLYMSSLLPA
460 470 480 490 500
KMFAIATINK AGWGTSGRKT IVVNFIGLIP VSVWFTILLG GVIFTIYKES
510 520 530 540 550
KRPFSESKQT VLIVGTLLYA CYWVMLLTLY VVLINKCGRR KKGQQYDMVL

DV
Length:552
Mass (Da):63,566
Last modified:February 1, 1997 - v1
Checksum:iEEEF58D97B131F9D
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U54804 mRNA. Translation: AAC50692.1.
BC069353 mRNA. Translation: AAH69353.1.
BC109071 mRNA. Translation: AAI09072.1.
BC109072 mRNA. Translation: AAI09073.1.
CCDSiCCDS6335.1.
RefSeqiNP_005319.1. NM_005328.2.
UniGeneiHs.159226.

Genome annotation databases

EnsembliENST00000303924; ENSP00000306991; ENSG00000170961.
GeneIDi3037.
KEGGihsa:3037.
UCSCiuc003yph.2. human.

Polymorphism databases

DMDMi7387737.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database"

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U54804 mRNA. Translation: AAC50692.1 .
BC069353 mRNA. Translation: AAH69353.1 .
BC109071 mRNA. Translation: AAI09072.1 .
BC109072 mRNA. Translation: AAI09073.1 .
CCDSi CCDS6335.1.
RefSeqi NP_005319.1. NM_005328.2.
UniGenei Hs.159226.

3D structure databases

ProteinModelPortali Q92819.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109287. 3 interactions.
STRINGi 9606.ENSP00000306991.

Protein family/group databases

CAZyi GT2. Glycosyltransferase Family 2.

PTM databases

PhosphoSitei Q92819.

Polymorphism databases

DMDMi 7387737.

Proteomic databases

PaxDbi Q92819.
PRIDEi Q92819.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303924 ; ENSP00000306991 ; ENSG00000170961 .
GeneIDi 3037.
KEGGi hsa:3037.
UCSCi uc003yph.2. human.

Organism-specific databases

CTDi 3037.
GeneCardsi GC08M122624.
HGNCi HGNC:4819. HAS2.
MIMi 601636. gene.
neXtProti NX_Q92819.
PharmGKBi PA29195.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1215.
GeneTreei ENSGT00390000010337.
HOGENOMi HOG000112847.
HOVERGENi HBG000189.
InParanoidi Q92819.
KOi K00752.
OMAi HYDMVLD.
OrthoDBi EOG77WWBZ.
PhylomeDBi Q92819.
TreeFami TF332506.

Enzyme and pathway databases

UniPathwayi UPA00341 .
BRENDAi 2.4.1.212. 2681.
Reactomei REACT_121301. Hyaluronan biosynthesis and export.

Miscellaneous databases

ChiTaRSi HAS2. human.
GeneWikii HAS2.
GenomeRNAii 3037.
NextBioi 12022.
PROi Q92819.
SOURCEi Search...

Gene expression databases

Bgeei Q92819.
CleanExi HS_HAS2.
Genevestigatori Q92819.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR026107. HAS/NodC.
IPR028371. HAS2.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
PANTHERi PTHR22913. PTHR22913. 1 hit.
PTHR22913:SF7. PTHR22913:SF7. 1 hit.
SUPFAMi SSF53448. SSF53448. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular identification of a putative human hyaluronan synthase."
    Watanabe K., Yamaguchi Y.
    J. Biol. Chem. 271:22945-22948(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement."
    Morerio C., Rapella A., Rosanda C., Tassano E., Gambini C., Romagnoli G., Panarello C.
    Cancer Genet. Cytogenet. 156:183-184(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL REARRANGEMENT WITH PLAG1.

Entry informationi

Entry nameiHYAS2_HUMAN
AccessioniPrimary (citable) accession number: Q92819
Secondary accession number(s): Q32MM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 1, 1997
Last modified: October 29, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3