HS3ST5 (heparan sulfate-glucosamine 3-sulfotransferase 5) - Rat Genome Database

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Gene: HS3ST5 (heparan sulfate-glucosamine 3-sulfotransferase 5) Homo sapiens
Analyze
Symbol: HS3ST5
Name: heparan sulfate-glucosamine 3-sulfotransferase 5
RGD ID: 1314962
HGNC Page HGNC
Description: Exhibits [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity. Involved in several processes, including heparan sulfate proteoglycan biosynthetic process, enzymatic modification; protein sulfation; and regulation of viral entry into host cell. Predicted to localize to Golgi membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 3-OST-5; 3OST5; h3-OST-5; heparan sulfate (glucosamine) 3-O-sulfotransferase 5; heparan sulfate 3-O-sulfotransferase 5; heparan sulfate 3-OST-5; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5; heparan sulfate glucosamine 3-O-sulfotransferase 5; HS3OST5; NBLA04021; Nbla04021 product-like
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
GRCh38.p13 Ensembl6114,055,596 - 114,343,023 (-)EnsemblGRCh38hg38GRCh38
GRCh386114,055,586 - 114,343,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376114,376,760 - 114,664,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366114,485,114 - 114,490,702 (-)NCBINCBI36hg18NCBI36
Build 346114,485,113 - 114,490,702NCBI
Celera6115,118,158 - 115,125,449 (-)NCBI
Cytogenetic Map6q21-q22.1NCBI
HuRef6111,953,620 - 111,960,911 (-)NCBIHuRef
CHM1_16114,639,638 - 114,646,928 (-)NCBICHM1_1
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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12138164   PMID:12477932   PMID:12740361   PMID:14702039   PMID:15026143   PMID:15489334   PMID:16099108   PMID:18978678   PMID:21873635   PMID:24086445   PMID:31586073  


Genomics

Comparative Map Data
HS3ST5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6114,055,596 - 114,343,023 (-)EnsemblGRCh38hg38GRCh38
GRCh386114,055,586 - 114,343,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376114,376,760 - 114,664,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366114,485,114 - 114,490,702 (-)NCBINCBI36hg18NCBI36
Build 346114,485,113 - 114,490,702NCBI
Celera6115,118,158 - 115,125,449 (-)NCBI
Cytogenetic Map6q21-q22.1NCBI
HuRef6111,953,620 - 111,960,911 (-)NCBIHuRef
CHM1_16114,639,638 - 114,646,928 (-)NCBICHM1_1
Hs3st5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391036,382,794 - 36,710,393 (+)NCBIGRCm39mm39
GRCm39 Ensembl1036,382,810 - 36,710,393 (+)Ensembl
GRCm381036,506,590 - 36,834,397 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1036,506,814 - 36,834,397 (+)EnsemblGRCm38mm10GRCm38
MGSCv371036,226,613 - 36,554,203 (+)NCBIGRCm37mm9NCBIm37
MGSCv361036,196,223 - 36,523,813 (+)NCBImm8
Celera1037,409,543 - 37,736,930 (+)NCBICelera
Cytogenetic Map10B1NCBI
Hs3st5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22040,106,876 - 40,417,661 (+)NCBI
Rnor_6.0 Ensembl2040,236,437 - 40,545,494 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02040,236,437 - 40,545,502 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02041,969,878 - 42,279,758 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42040,711,763 - 41,022,773 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12041,039,793 - 41,044,941 (+)NCBI
Celera2040,863,898 - 41,173,368 (+)NCBICelera
Cytogenetic Map20q12NCBI
Hs3st5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555262,636,579 - 2,652,405 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555262,418,217 - 2,652,025 (+)NCBIChiLan1.0ChiLan1.0
HS3ST5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16115,917,004 - 116,202,924 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6115,917,004 - 116,089,942 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06111,846,143 - 112,132,706 (-)NCBIMhudiblu_PPA_v0panPan3
HS3ST5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11270,137,232 - 70,387,797 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1270,140,802 - 70,388,174 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1269,884,392 - 70,134,790 (-)NCBI
ROS_Cfam_1.01271,019,134 - 71,268,571 (-)NCBI
UMICH_Zoey_3.11270,370,842 - 70,620,669 (-)NCBI
UNSW_CanFamBas_1.01270,209,266 - 70,461,102 (-)NCBI
UU_Cfam_GSD_1.01270,540,322 - 70,791,458 (-)NCBI
Hs3st5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946105,308,246 - 105,505,241 (-)NCBI
SpeTri2.0NW_0049366792,540,894 - 2,737,462 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HS3ST5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl179,955,657 - 80,243,797 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1179,956,485 - 80,140,140 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2190,017,049 - 90,306,175 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HS3ST5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11359,486,748 - 59,774,673 (+)NCBI
ChlSab1.1 Ensembl1359,598,298 - 59,774,953 (+)Ensembl
Vero_WHO_p1.0NW_02366604031,859,012 - 32,137,822 (+)NCBI
Hs3st5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248564,403,071 - 4,689,535 (+)NCBI

Position Markers
MARC_13929-13930:1007579405:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376114,377,982 - 114,378,433UniSTSGRCh37
Build 366114,484,675 - 114,485,126RGDNCBI36
Celera6115,119,390 - 115,119,841RGD
HuRef6111,954,852 - 111,955,303UniSTS
HS3ST5__6593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376114,378,253 - 114,378,887UniSTSGRCh37
Build 366114,484,946 - 114,485,580RGDNCBI36
Celera6115,119,661 - 115,120,295RGD
HuRef6111,955,123 - 111,955,757UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1540
Count of miRNA genes:531
Interacting mature miRNAs:604
Transcripts:ENST00000312719, ENST00000411826, ENST00000441954
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 1 1 1 1 30 221 1 2 9
Low 466 13 48 20 55 18 699 363 2493 58 195 159 5 1 507
Below cutoff 1698 2013 1117 215 847 98 3026 1508 990 156 1009 1216 122 782 1997 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001387039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF503292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL500524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000312719   ⟹   ENSP00000427888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6114,055,586 - 114,343,045 (-)Ensembl
RefSeq Acc Id: ENST00000411826   ⟹   ENSP00000440332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6114,055,586 - 114,062,877 (-)Ensembl
RefSeq Acc Id: ENST00000441954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6114,167,477 - 114,168,450 (-)Ensembl
RefSeq Acc Id: NM_001387039   ⟹   NP_001373968
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387040   ⟹   NP_001373969
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387041   ⟹   NP_001373970
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387042   ⟹   NP_001373971
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387043   ⟹   NP_001373972
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387044   ⟹   NP_001373973
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387045   ⟹   NP_001373974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387046   ⟹   NP_001373975
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_001387047   ⟹   NP_001373976
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
RefSeq Acc Id: NM_153612   ⟹   NP_705840
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,596 - 114,343,023 (-)NCBI
GRCh376114,376,750 - 114,663,540 (-)NCBI
Build 366114,485,114 - 114,490,702 (-)NCBI Archive
Celera6115,118,158 - 115,125,449 (-)RGD
HuRef6111,953,620 - 111,960,911 (-)ENTREZGENE
CHM1_16114,639,638 - 114,646,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535588   ⟹   XP_011533890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,586 - 114,082,711 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010471   ⟹   XP_016865960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,586 - 114,250,257 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010472   ⟹   XP_016865961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386114,055,586 - 114,230,134 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_705840   ⟸   NM_153612
- UniProtKB: Q8IZT8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533890   ⟸   XM_011535588
- Peptide Label: isoform X1
- UniProtKB: Q8IZT8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016865960   ⟸   XM_017010471
- Peptide Label: isoform X1
- UniProtKB: Q8IZT8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016865961   ⟸   XM_017010472
- Peptide Label: isoform X1
- UniProtKB: Q8IZT8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000440332   ⟸   ENST00000411826
RefSeq Acc Id: ENSP00000427888   ⟸   ENST00000312719
RefSeq Acc Id: NP_001373969   ⟸   NM_001387040
RefSeq Acc Id: NP_001373975   ⟸   NM_001387046
RefSeq Acc Id: NP_001373970   ⟸   NM_001387041
RefSeq Acc Id: NP_001373973   ⟸   NM_001387044
RefSeq Acc Id: NP_001373974   ⟸   NM_001387045
RefSeq Acc Id: NP_001373968   ⟸   NM_001387039
RefSeq Acc Id: NP_001373972   ⟸   NM_001387043
RefSeq Acc Id: NP_001373971   ⟸   NM_001387042
RefSeq Acc Id: NP_001373976   ⟸   NM_001387047


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
NM_153612.3(HS3ST5):c.985C>T (p.His329Tyr) single nucleotide variant Malignant melanoma [RCV000067078] Chr6:114057313 [GRCh38]
Chr6:114378477 [GRCh37]
Chr6:114485170 [NCBI36]
Chr6:6q21
not provided
NM_153612.3(HS3ST5):c.823C>T (p.Leu275=) single nucleotide variant Malignant melanoma [RCV000067079] Chr6:114057475 [GRCh38]
Chr6:114378639 [GRCh37]
Chr6:114485332 [NCBI36]
Chr6:6q21
not provided
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1
pathogenic
GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1 copy number loss See cases [RCV000138778] Chr6:113997278..116053529 [GRCh38]
Chr6:114318442..116374692 [GRCh37]
Chr6:114425135..116481385 [NCBI36]
Chr6:6q21-22.1
uncertain significance
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1
pathogenic
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3 copy number gain not provided [RCV000487884] Chr6:114318401..116957002 [GRCh37]
Chr6:6q21-22.1
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss PARP Inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1 copy number loss not provided [RCV000682711] Chr6:113261042..117842826 [GRCh37]
Chr6:6q21-22.1
pathogenic
GRCh37/hg19 6q21-22.1(chr6:114296663-114982166)x3 copy number gain not provided [RCV000682712] Chr6:114296663..114982166 [GRCh37]
Chr6:6q21-22.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31
pathogenic
GRCh37/hg19 6q21(chr6:114331104-114593248)x1 copy number loss not provided [RCV001005842] Chr6:114331104..114593248 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21-22.1(chr6:113852057-115514875)x1 copy number loss not provided [RCV000846202] Chr6:113852057..115514875 [GRCh37]
Chr6:6q21-22.1
uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19419 AgrOrtholog
COSMIC HS3ST5 COSMIC
Ensembl Genes ENSG00000249853 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000427888 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312719 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000249853 GTEx
HGNC ID HGNC:19419 ENTREZGENE
Human Proteome Map HS3ST5 Human Proteome Map
InterPro NST/OST UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Sulfotransferase_dom UniProtKB/Swiss-Prot
KEGG Report hsa:222537 UniProtKB/Swiss-Prot
NCBI Gene 222537 ENTREZGENE
OMIM 609407 OMIM
PANTHER PTHR10605 UniProtKB/Swiss-Prot
Pfam Sulfotransfer_1 UniProtKB/Swiss-Prot
PharmGKB PA164741639 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt HS3S5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K1J2 UniProtKB/Swiss-Prot
  Q52LI2 UniProtKB/Swiss-Prot
  Q8N285 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 HS3ST5  heparan sulfate-glucosamine 3-sulfotransferase 5  HS3ST5  heparan sulfate (glucosamine) 3-O-sulfotransferase 5  Symbol and/or name change 5135510 APPROVED