Q92819 (HAS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

HAS2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	552 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Plays a role in hyaluronan/hyaluronic acid (HA) synthesis.
Catalytic activity	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).
Cofactor	Magnesium.
Pathway	Glycan biosynthesis; hyaluronan biosynthesis.
Subcellular location	Membrane; Multi-pass membrane protein Probable.
Tissue specificity	Expressed in fibroblasts.
Involvement in disease	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.
Sequence similarities	Belongs to the NodC/HAS family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Chromosomal rearrangement
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to fluid shear stress Inferred from expression pattern PubMed 21551265. Source: BHF-UCL cellular response to interleukin-1 Inferred from expression pattern PubMed 20522558. Source: BHF-UCL cellular response to platelet-derived growth factor stimulus Inferred from direct assay PubMed 17324121. Source: UniProtKB cellular response to tumor necrosis factor Inferred from expression pattern PubMed 20522558. Source: BHF-UCL hyaluronan biosynthetic process Inferred from direct assay PubMed 17324121. Source: UniProtKB kidney development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cell migration Inferred from mutant phenotype PubMed 22016393. Source: BHF-UCL positive regulation of cell proliferation Inferred from mutant phenotype PubMed 22016393. Source: BHF-UCL positive regulation of monocyte aggregation Inferred from mutant phenotype PubMed 20522558. Source: BHF-UCL positive regulation of urine volume Inferred from sequence or structural similarity. Source: UniProtKB renal water absorption Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to plasma membrane Inferred from direct assay PubMed 20522558. Source: BHF-UCL
Molecular_function	hyaluronan synthase activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 552	552	Hyaluronan synthase 2		PRO_0000197173
Regions
	Topological domain	1 – 11	11	Cytoplasmic Potential
	Transmembrane	12 – 32	21	Helical; Name=1; Potential
	Topological domain	33 – 45	13	Extracellular Potential
	Transmembrane	46 – 66	21	Helical; Name=2; Potential
	Topological domain	67 – 374	308	Cytoplasmic Potential
	Transmembrane	375 – 395	21	Helical; Name=3; Potential
	Topological domain	396 – 402	7	Extracellular Potential
	Transmembrane	403 – 423	21	Helical; Name=4; Potential
	Topological domain	424 – 429	6	Cytoplasmic Potential
	Transmembrane	430 – 450	21	Helical; Name=5; Potential
	Topological domain	451 – 475	25	Extracellular Potential
	Transmembrane	476 – 496	21	Helical; Name=6; Potential
	Topological domain	497 – 510	14	Cytoplasmic Potential
	Transmembrane	511 – 531	21	Helical; Name=7; Potential
	Topological domain	532 – 552	21	Extracellular Potential

Sequences

	Sequence		Length	Mass (Da)
	Q92819 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: EEEF58D97B131F9D	FASTA	552	63,566
	10 20 30 40 50 60 MHCERFLCIL RIIGTTLFGV SLLLGITAAY IVGYQFIQTD NYYFSFGLYG AFLASHLIIQ 70 80 90 100 110 120 SLFAFLEHRK MKKSLETPIK LNKTVALCIA AYQEDPDYLR KCLQSVKRLT YPGIKVVMVI 130 140 150 160 170 180 DGNSEDDLYM MDIFSEVMGR DKSATYIWKN NFHEKGPGET DESHKESSQH VTQLVLSNKS 190 200 210 220 230 240 ICIMQKWGGK REVMYTAFRA LGRSVDYVQV CDSDTMLDPA SSVEMVKVLE EDPMVGGVGG 250 260 270 280 290 300 DVQILNKYDS WISFLSSVRY WMAFNIERAC QSYFGCVQCI SGPLGMYRNS LLHEFVEDWY 310 320 330 340 350 360 NQEFMGNQCS FGDDRHLTNR VLSLGYATKY TARSKCLTET PIEYLRWLNQ QTRWSKSYFR 370 380 390 400 410 420 EWLYNAMWFH KHHLWMTYEA IITGFFPFFL IATVIQLFYR GKIWNILLFL LTVQLVGLIK 430 440 450 460 470 480 SSFASCLRGN IVMVFMSLYS VLYMSSLLPA KMFAIATINK AGWGTSGRKT IVVNFIGLIP 490 500 510 520 530 540 VSVWFTILLG GVIFTIYKES KRPFSESKQT VLIVGTLLYA CYWVMLLTLY VVLINKCGRR 550 KKGQQYDMVL DV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database"

Cross-references

Sequence databases
EMBL GenBank DDBJ	U54804 mRNA. Translation: AAC50692.1. BC069353 mRNA. Translation: AAH69353.1. BC109071 mRNA. Translation: AAI09072.1. BC109072 mRNA. Translation: AAI09073.1.
IPI	IPI00023713.
RefSeq	NP_005319.1. NM_005328.2.
UniGene	Hs.159226.
3D structure databases
ProteinModelPortal	Q92819.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000306991.
Protein family/group databases
CAZy	GT2. Glycosyltransferase Family 2.
PTM databases
PhosphoSite	Q92819.
Polymorphism databases
DMDM	7387737.
Proteomic databases
PaxDb	Q92819.
PRIDE	Q92819.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303924; ENSP00000306991; ENSG00000170961.
GeneID	3037.
KEGG	hsa:3037.
UCSC	uc003yph.2. human.
Organism-specific databases
CTD	3037.
GeneCards	GC08M122624.
HGNC	HGNC:4819. HAS2.
MIM	601636. gene.
neXtProt	NX_Q92819.
PharmGKB	PA29195.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1215.
HOGENOM	HOG000112847.
HOVERGEN	HBG000189.
InParanoid	Q92819.
KO	K00752.
OMA	ICILRII.
OrthoDB	EOG4KH2TP.
PhylomeDB	Q92819.
Enzyme and pathway databases
BRENDA	2.4.1.212. 2681.
Reactome	REACT_111217. Metabolism. REACT_116125. Disease.
UniPathway	UPA00341.
Gene expression databases
Bgee	Q92819.
CleanEx	HS_HAS2.
Genevestigator	Q92819.
GermOnline	ENSG00000170961. Homo sapiens.
Family and domain databases
InterPro	IPR004835. Chitin_synth_fng. IPR026107. HAS/NodC. [Graphical view]
PANTHER	PTHR22913. PTHR22913. 1 hit.
Pfam	PF03142. Chitin_synth_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HAS2. human.
GenomeRNAi	3037.
NextBio	12022.
SOURCE	Search...

Entry information

Entry name

HAS2_HUMAN

Accession

Primary (citable) accession number: Q92819
Secondary accession number(s): Q32MM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	February 1, 1997
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.