HAS1 (hyaluronan synthase 1) - Rat Genome Database

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Gene: HAS1 (hyaluronan synthase 1) Homo sapiens
Analyze
Symbol: HAS1
Name: hyaluronan synthase 1
RGD ID: 1343910
HGNC Page HGNC:4818
Description: Enables identical protein binding activity. Involved in cellular response to platelet-derived growth factor stimulus and negative regulation of fibroblast migration. Located in Golgi apparatus and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HA synthase 1; HAS; huHAS1; hyaluronate synthase 1; hyaluronic acid synthase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,713,112 - 51,723,991 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,713,112 - 51,723,991 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,216,365 - 52,227,244 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,908,177 - 56,919,033 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,908,176 - 56,919,033NCBI
Celera1949,265,901 - 49,276,762 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,547,305 - 48,558,022 (-)NCBIHuRef
CHM1_11952,218,163 - 52,229,047 (-)NCBICHM1_1
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
Golgi apparatus  (IDA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Synthesis and fragmentation of hyaluronan in renal ischaemia. Decleves AE, etal., Nephrol Dial Transplant. 2012 Oct;27(10):3771-81. doi: 10.1093/ndt/gfs098. Epub 2012 Apr 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Parallel up-regulation of FGF-2 and hyaluronan during development of cardiac hypertrophy in rat. Hellman U, etal., Cell Tissue Res. 2008 Jan 15;.
4. Mycobacteria exploit host hyaluronan for efficient extracellular replication. Hirayama Y, etal., PLoS Pathog. 2009 Oct;5(10):e1000643. doi: 10.1371/journal.ppat.1000643. Epub 2009 Oct 30.
5. The enzymatic degradation of hyaluronan is associated with disease progression in experimental pulmonary hypertension. Ormiston ML, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L148-57. doi: 10.1152/ajplung.00097.2009. Epub 2009 Nov 13.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3099751   PMID:8651928   PMID:8798544   PMID:9169154   PMID:10093717   PMID:11790779   PMID:12239172   PMID:12477932   PMID:12720129   PMID:14636845   PMID:15731173   PMID:15794859  
PMID:15870928   PMID:16258173   PMID:16564133   PMID:16723203   PMID:16786194   PMID:17324121   PMID:17353931   PMID:17611197   PMID:17904513   PMID:17922656   PMID:18199543   PMID:18400745  
PMID:18815290   PMID:19148550   PMID:19362966   PMID:19435493   PMID:19451652   PMID:19577615   PMID:19737932   PMID:20072653   PMID:20875124   PMID:20960509   PMID:21873635   PMID:21901291  
PMID:22529214   PMID:22695958   PMID:22934709   PMID:22939629   PMID:23123404   PMID:23301075   PMID:23303191   PMID:23383108   PMID:23560496   PMID:24097068   PMID:24099991   PMID:24658508  
PMID:24950197   PMID:25325984   PMID:25795779   PMID:25940091   PMID:25963833   PMID:26518873   PMID:27184066   PMID:27197753   PMID:29137675   PMID:30187954   PMID:30614308   PMID:31741433  
PMID:31930562   PMID:32503626   PMID:33803805   PMID:33908161   PMID:33921242   PMID:34455221   PMID:35256949   PMID:36849460   PMID:38113892  


Genomics

Comparative Map Data
HAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,713,112 - 51,723,991 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,713,112 - 51,723,991 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,216,365 - 52,227,244 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,908,177 - 56,919,033 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,908,176 - 56,919,033NCBI
Celera1949,265,901 - 49,276,762 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,547,305 - 48,558,022 (-)NCBIHuRef
CHM1_11952,218,163 - 52,229,047 (-)NCBICHM1_1
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBIT2T-CHM13v2.0
Has1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391718,063,588 - 18,075,450 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1718,063,585 - 18,075,467 (-)EnsemblGRCm39 Ensembl
GRCm381717,833,691 - 17,855,589 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1717,843,323 - 17,855,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv371717,980,290 - 17,992,152 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361717,547,941 - 17,559,804 (-)NCBIMGSCv36mm8
Celera1718,784,007 - 18,795,939 (-)NCBICelera
Cytogenetic Map17A3.2NCBI
cM Map1710.53NCBI
Has1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8167,366,460 - 67,378,686 (-)NCBIGRCr8
mRatBN7.2158,693,411 - 58,705,653 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl158,693,411 - 58,705,397 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx163,518,026 - 63,530,014 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0172,210,671 - 72,222,664 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0165,428,072 - 65,440,064 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0159,720,612 - 59,732,409 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl159,720,612 - 59,732,409 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0160,640,270 - 60,652,067 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4156,503,365 - 56,516,133 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1156,506,309 - 56,519,078 (-)NCBI
Celera154,874,356 - 54,879,329 (-)NCBICelera
Cytogenetic Map1q12NCBI
Has1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955558826,853 - 836,809 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955558826,853 - 836,809 (+)NCBIChiLan1.0ChiLan1.0
HAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22057,756,571 - 57,767,543 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11959,680,847 - 59,691,810 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01948,657,165 - 48,668,130 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11957,537,049 - 57,547,804 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1957,537,049 - 57,547,804 (-)Ensemblpanpan1.1panPan2
HAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11105,376,091 - 105,386,043 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1105,376,536 - 105,385,134 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1104,949,702 - 104,959,564 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01105,886,101 - 105,895,963 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1105,885,956 - 105,895,628 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11105,558,334 - 105,568,196 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,199,396 - 105,209,300 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01105,994,224 - 106,004,086 (+)NCBIUU_Cfam_GSD_1.0
Has1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093494,768,242 - 4,775,106 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937026125,881 - 135,235 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004937026125,622 - 132,141 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl658,302,799 - 58,313,486 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1658,303,274 - 58,313,486 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,877,028 - 51,888,298 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1644,540,036 - 44,552,396 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl644,540,363 - 44,547,711 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607324,594,280 - 24,606,885 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Has1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,329,920 - 3,336,290 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,327,626 - 3,341,928 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HAS1
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_001523.3(HAS1):c.851G>A (p.Arg284Gln) single nucleotide variant Malignant melanoma [RCV000072298] Chr19:51717045 [GRCh38]
Chr19:52220298 [GRCh37]
Chr19:56912110 [NCBI36]
Chr19:19q13.41		 not provided
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3 copy number gain See cases [RCV000138486] Chr19:51681235..51936423 [GRCh38]
Chr19:52184488..52439676 [GRCh37]
Chr19:56876300..57131488 [NCBI36]
Chr19:19q13.41		 likely benign
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 copy number gain See cases [RCV000143450] Chr19:51202361..51993020 [GRCh38]
Chr19:51705617..52496273 [GRCh37]
Chr19:56397429..57188085 [NCBI36]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.41(chr19:52225767-52356791)x3 copy number gain not provided [RCV000752747] Chr19:52225767..52356791 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19q13.41(chr19:52224551-52328897)x3 copy number gain See cases [RCV000447378] Chr19:52224551..52328897 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001297436.2(HAS1):c.1441A>C (p.Thr481Pro) single nucleotide variant Inborn genetic diseases [RCV003282720] Chr19:51713720 [GRCh38]
Chr19:52216973 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001297436.2(HAS1):c.116A>G (p.Tyr39Cys) single nucleotide variant Inborn genetic diseases [RCV003275868] Chr19:51719789 [GRCh38]
Chr19:52223042 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.41(chr19:52152017-52299885)x3 copy number gain not provided [RCV000752746] Chr19:52152017..52299885 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001297436.2(HAS1):c.775G>A (p.Val259Ile) single nucleotide variant Inborn genetic diseases [RCV003292497] Chr19:51717118 [GRCh38]
Chr19:52220371 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1240G>A (p.Val414Met) single nucleotide variant not provided [RCV000904527] Chr19:51713921 [GRCh38]
Chr19:52217174 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001297436.2(HAS1):c.43T>G (p.Cys15Gly) single nucleotide variant Inborn genetic diseases [RCV003253185] Chr19:51719862 [GRCh38]
Chr19:52223115 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 copy number gain not provided [RCV001827892] Chr19:51769834..52415762 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001297436.2(HAS1):c.248C>T (p.Ala83Val) single nucleotide variant Inborn genetic diseases [RCV002682217] Chr19:51719657 [GRCh38]
Chr19:52222910 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.233G>T (p.Arg78Leu) single nucleotide variant Myoepithelial tumor [RCV002463896] Chr19:51719672 [GRCh38]
Chr19:52222925 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.493T>A (p.Tyr165Asn) single nucleotide variant Inborn genetic diseases [RCV002682078] Chr19:51719412 [GRCh38]
Chr19:52222665 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.158T>G (p.Leu53Arg) single nucleotide variant Inborn genetic diseases [RCV002728508] Chr19:51719747 [GRCh38]
Chr19:52223000 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.409C>A (p.Arg137Ser) single nucleotide variant Inborn genetic diseases [RCV002906838] Chr19:51719496 [GRCh38]
Chr19:52222749 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1044G>A (p.Met348Ile) single nucleotide variant Inborn genetic diseases [RCV002754169] Chr19:51716270 [GRCh38]
Chr19:52219523 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.38G>A (p.Cys13Tyr) single nucleotide variant Inborn genetic diseases [RCV002772589] Chr19:51719867 [GRCh38]
Chr19:52223120 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.653T>C (p.Met218Thr) single nucleotide variant Inborn genetic diseases [RCV002774163] Chr19:51719252 [GRCh38]
Chr19:52222505 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1362C>G (p.Cys454Trp) single nucleotide variant Inborn genetic diseases [RCV002771672] Chr19:51713799 [GRCh38]
Chr19:52217052 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.193C>A (p.His65Asn) single nucleotide variant Inborn genetic diseases [RCV002661896] Chr19:51719712 [GRCh38]
Chr19:52222965 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.969G>T (p.Trp323Cys) single nucleotide variant Inborn genetic diseases [RCV002981270] Chr19:51716345 [GRCh38]
Chr19:52219598 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1409G>A (p.Gly470Asp) single nucleotide variant Inborn genetic diseases [RCV002694138] Chr19:51713752 [GRCh38]
Chr19:52217005 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.662C>A (p.Ala221Asp) single nucleotide variant Inborn genetic diseases [RCV002978638] Chr19:51719243 [GRCh38]
Chr19:52222496 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1484T>A (p.Leu495Gln) single nucleotide variant Inborn genetic diseases [RCV003000794] Chr19:51713677 [GRCh38]
Chr19:52216930 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1021C>A (p.Leu341Ile) single nucleotide variant Inborn genetic diseases [RCV002665355] Chr19:51716293 [GRCh38]
Chr19:52219546 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1513C>G (p.Leu505Val) single nucleotide variant Inborn genetic diseases [RCV002665902] Chr19:51713648 [GRCh38]
Chr19:52216901 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.889T>C (p.Tyr297His) single nucleotide variant Inborn genetic diseases [RCV002701587] Chr19:51717004 [GRCh38]
Chr19:52220257 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV002961232] Chr19:51717093 [GRCh38]
Chr19:52220346 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1634G>A (p.Gly545Asp) single nucleotide variant Inborn genetic diseases [RCV002939526] Chr19:51713527 [GRCh38]
Chr19:52216780 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1603G>A (p.Ala535Thr) single nucleotide variant Inborn genetic diseases [RCV002809052] Chr19:51713558 [GRCh38]
Chr19:52216811 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1040G>C (p.Ser347Thr) single nucleotide variant Inborn genetic diseases [RCV002898321] Chr19:51716274 [GRCh38]
Chr19:52219527 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1451A>G (p.Gln484Arg) single nucleotide variant Inborn genetic diseases [RCV002655755] Chr19:51713710 [GRCh38]
Chr19:52216963 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.92T>G (p.Ile31Ser) single nucleotide variant Inborn genetic diseases [RCV003207584] Chr19:51719813 [GRCh38]
Chr19:52223066 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.338G>T (p.Cys113Phe) single nucleotide variant Inborn genetic diseases [RCV003204965] Chr19:51719567 [GRCh38]
Chr19:52222820 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.668A>G (p.Lys223Arg) single nucleotide variant Inborn genetic diseases [RCV003188885] Chr19:51719237 [GRCh38]
Chr19:52222490 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.934A>G (p.Arg312Gly) single nucleotide variant Inborn genetic diseases [RCV003219668] Chr19:51716380 [GRCh38]
Chr19:52219633 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.383G>T (p.Arg128Leu) single nucleotide variant Inborn genetic diseases [RCV003261800] Chr19:51719522 [GRCh38]
Chr19:52222775 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1519C>T (p.Leu507Phe) single nucleotide variant Inborn genetic diseases [RCV003379671] Chr19:51713642 [GRCh38]
Chr19:52216895 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1684G>A (p.Val562Met) single nucleotide variant Inborn genetic diseases [RCV003370380] Chr19:51713477 [GRCh38]
Chr19:52216730 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001297436.2(HAS1):c.1031G>T (p.Arg344Leu) single nucleotide variant Inborn genetic diseases [RCV003369248] Chr19:51716283 [GRCh38]
Chr19:52219536 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001297436.2(HAS1):c.426C>T (p.Tyr142=) single nucleotide variant not provided [RCV003407092] Chr19:51719479 [GRCh38]
Chr19:52222732 [GRCh37]
Chr19:19q13.41		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1323
Count of miRNA genes:525
Interacting mature miRNAs:582
Transcripts:ENST00000222115, ENST00000540069, ENST00000594621, ENST00000601667, ENST00000601714
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH68308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,216,506 - 52,216,687UniSTSGRCh37
Build 361956,908,318 - 56,908,499RGDNCBI36
Celera1949,266,042 - 49,266,223RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,547,447 - 48,547,628UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 157 238 22 3 14 3 253 77 25 3 149 96 485 70
Low 1334 1489 640 129 614 97 2160 761 2675 47 600 736 36 474 1162
Below cutoff 809 1215 918 390 823 271 1668 1133 935 214 593 604 124 240 1353 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001297436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM904814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX371636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222115   ⟹   ENSP00000222115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,713,112 - 51,723,968 (-)Ensembl
RefSeq Acc Id: ENST00000540069   ⟹   ENSP00000445021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,713,112 - 51,723,991 (-)Ensembl
RefSeq Acc Id: ENST00000594621   ⟹   ENSP00000469165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,713,892 - 51,719,469 (-)Ensembl
RefSeq Acc Id: ENST00000601667   ⟹   ENSP00000471953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,713,892 - 51,719,263 (-)Ensembl
RefSeq Acc Id: ENST00000601714   ⟹   ENSP00000472821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,713,112 - 51,719,941 (-)Ensembl
RefSeq Acc Id: NM_001297436   ⟹   NP_001284365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,713,112 - 51,723,991 (-)NCBI
CHM1_11952,218,163 - 52,229,071 (-)NCBI
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001523   ⟹   NP_001514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,713,112 - 51,723,991 (-)NCBI
GRCh371952,216,365 - 52,227,239 (-)NCBI
Build 361956,908,177 - 56,919,033 (-)NCBI Archive
HuRef1948,547,305 - 48,558,022 (-)ENTREZGENE
CHM1_11952,218,163 - 52,229,071 (-)NCBI
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526884   ⟹   XP_011525186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,713,112 - 51,723,991 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438719   ⟹   XP_047294675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,713,112 - 51,723,991 (-)NCBI
RefSeq Acc Id: XM_054320775   ⟹   XP_054176750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBI
RefSeq Acc Id: XM_054320776   ⟹   XP_054176751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01954,800,274 - 54,811,173 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001514   ⟸   NM_001523
- Peptide Label: isoform 1
- UniProtKB: Q14470 (UniProtKB/Swiss-Prot),   Q9NS49 (UniProtKB/Swiss-Prot),   Q92839 (UniProtKB/Swiss-Prot),   Q8IYH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284365   ⟸   NM_001297436
- Peptide Label: isoform 2
- UniProtKB: G3V1S7 (UniProtKB/TrEMBL),   Q8IYH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525186   ⟸   XM_011526884
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000469165   ⟸   ENST00000594621
RefSeq Acc Id: ENSP00000472821   ⟸   ENST00000601714
RefSeq Acc Id: ENSP00000471953   ⟸   ENST00000601667
RefSeq Acc Id: ENSP00000222115   ⟸   ENST00000222115
RefSeq Acc Id: ENSP00000445021   ⟸   ENST00000540069
RefSeq Acc Id: XP_047294675   ⟸   XM_047438719
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176751   ⟸   XM_054320776
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176750   ⟸   XM_054320775
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92839-F1-model_v2 AlphaFold Q92839 1-578 view protein structure

Promoters
RGD ID:13205403
Promoter ID:EPDNEW_H26282
Type:multiple initiation site
Name:HAS1_1
Description:hyaluronan synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26283  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,723,991 - 51,724,051EPDNEW
RGD ID:13205405
Promoter ID:EPDNEW_H26283
Type:initiation region
Name:HAS1_2
Description:hyaluronan synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26282  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,724,505 - 51,724,565EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4818 AgrOrtholog
COSMIC HAS1 COSMIC
Ensembl Genes ENSG00000105509 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222115 ENTREZGENE
  ENST00000222115.5 UniProtKB/Swiss-Prot
  ENST00000540069 ENTREZGENE
  ENST00000540069.7 UniProtKB/TrEMBL
  ENST00000594621.1 UniProtKB/TrEMBL
  ENST00000601667.5 UniProtKB/TrEMBL
  ENST00000601714.5 UniProtKB/TrEMBL
GTEx ENSG00000105509 GTEx
HGNC ID HGNC:4818 ENTREZGENE
Human Proteome Map HAS1 Human Proteome Map
InterPro Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3036 ENTREZGENE
OMIM 601463 OMIM
PANTHER HYALURONAN SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22913:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Chitin_synth_2 UniProtKB/TrEMBL
  Glyco_tranf_2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29194 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D2N2G5_HUMAN UniProtKB/TrEMBL
  G3V1S7 ENTREZGENE, UniProtKB/TrEMBL
  HYAS1_HUMAN UniProtKB/Swiss-Prot
  M0QXH4_HUMAN UniProtKB/TrEMBL
  M0R1L3_HUMAN UniProtKB/TrEMBL
  M0R2V0_HUMAN UniProtKB/TrEMBL
  Q14470 ENTREZGENE
  Q8IYH3 ENTREZGENE, UniProtKB/TrEMBL
  Q92839 ENTREZGENE
  Q9NS49 ENTREZGENE
UniProt Secondary Q14470 UniProtKB/Swiss-Prot
  Q9NS49 UniProtKB/Swiss-Prot