GeneBe

HAS1

hyaluronan synthase 1, the group of Glycosyltransferase family 2

Basic information

Region (hg38): 19:51713112-51723991

Previous symbols: [ "HAS" ]

Links

ENSG00000105509 ∙ NCBI:3036 ∙ OMIM:601463 ∙ HGNC:4818 ∙ Uniprot:Q92839 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HAS1 gene.

  • not_specified (101 variants)
  • not_provided (3 variants)
  • Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001297436.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
101
clinvar
1
clinvar
 102
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 101 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HAS1protein_codingprotein_codingENST00000222115 510883
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.31e-120.04951257021451257480.000183
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4753743491.070.00002243547
Missense in Polyphen129106.811.20781187
Synonymous-0.7831771641.080.00001111263
Loss of Function0.2491920.20.9409.59e-7198

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008730.000840
Ashkenazi Jewish0.000.00
East Asian0.0004050.000381
Finnish0.00004660.0000462
European (Non-Finnish)0.0001070.000105
Middle Eastern0.0004050.000381
South Asian0.0002290.000196
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: 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. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate (By similarity). {ECO:0000250}.;

Recessive Scores

pRec
0.245

Haploinsufficiency Scores

pHI
0.217
hipred
N
hipred_score
0.287
ghis
0.405

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.617

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Has1
Phenotype
normal phenotype;

Gene ontology

Biological process
glycosaminoglycan biosynthetic process;cell adhesion;negative regulation of fibroblast migration;hyaluronan biosynthetic process;cellular response to platelet-derived growth factor stimulus;estrous cycle;extracellular polysaccharide biosynthetic process;extracellular matrix assembly
Cellular component
cytoplasm;plasma membrane;integral component of plasma membrane
Molecular function
protein binding;identical protein binding;hyaluronan synthase activity