ST6GALNAC5 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5) - Rat Genome Database

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Gene: ST6GALNAC5 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5) Homo sapiens
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Symbol: ST6GALNAC5
Name: ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
RGD ID: 1352256
HGNC Page HGNC:19342
Description: Predicted to enable alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity. Predicted to be involved in ganglioside biosynthetic process and oligosaccharide biosynthetic process. Predicted to be located in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V; alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E; GalNAc alpha-2,6-sialyltransferase V; GD1 alpha synthase; MGC3184; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E; sialyltransferase 7 (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E; sialyltransferase 7E; SIAT7-E; SIAT7E; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; ST6 GalNAc alpha-2,6-sialyltransferase 5; ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; ST6GalNAc V; ST6GalNAcV
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38176,867,480 - 77,067,546 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl176,867,480 - 77,067,546 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,333,165 - 77,533,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,105,774 - 77,302,325 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,045,206 - 77,241,756NCBI
Celera175,572,629 - 75,769,169 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef175,463,113 - 75,660,214 (+)NCBIHuRef
CHM1_1177,448,510 - 77,645,048 (+)NCBICHM1_1
T2T-CHM13v2.0176,705,077 - 76,905,729 (+)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
Golgi apparatus  (IEA)
Golgi membrane  (IEA,TAS)
membrane  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:10521438   PMID:10601645   PMID:12477932   PMID:12668675   PMID:14702039   PMID:15489334   PMID:15843597   PMID:16344560   PMID:20379614  
PMID:21873635   PMID:24399302   PMID:24529757   PMID:26186194   PMID:28514442   PMID:33961781  


Genomics

Comparative Map Data
ST6GALNAC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38176,867,480 - 77,067,546 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl176,867,480 - 77,067,546 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,333,165 - 77,533,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,105,774 - 77,302,325 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,045,206 - 77,241,756NCBI
Celera175,572,629 - 75,769,169 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef175,463,113 - 75,660,214 (+)NCBIHuRef
CHM1_1177,448,510 - 77,645,048 (+)NCBICHM1_1
T2T-CHM13v2.0176,705,077 - 76,905,729 (+)NCBIT2T-CHM13v2.0
St6galnac5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393152,525,522 - 152,687,847 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3152,522,718 - 152,687,883 (-)EnsemblGRCm39 Ensembl
GRCm383152,819,885 - 152,982,210 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3152,817,081 - 152,982,246 (-)EnsemblGRCm38mm10GRCm38
MGSCv373152,483,673 - 152,645,171 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363152,757,272 - 152,919,596 (-)NCBIMGSCv36mm8
Celera3159,273,952 - 159,435,518 (-)NCBICelera
Cytogenetic Map3H3NCBI
cM Map377.16NCBI
St6galnac5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82244,398,604 - 244,571,100 (-)NCBIGRCr8
mRatBN7.22241,741,933 - 241,911,214 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2241,742,688 - 241,911,208 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2249,554,339 - 249,722,560 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02247,441,354 - 247,609,586 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02242,354,046 - 242,521,845 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02258,025,177 - 259,150,709 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2258,025,177 - 258,052,835 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02276,689,490 - 276,717,145 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02277,817,171 - 277,818,389 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2233,679,302 - 233,847,270 (-)NCBICelera
Cytogenetic Map2q45NCBI
ST6GALNAC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21149,826,258 - 150,027,714 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,984,098 - 149,188,156 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0176,080,706 - 76,284,836 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1178,167,466 - 78,370,516 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl178,167,280 - 78,366,180 (+)Ensemblpanpan1.1panPan2
ST6GALNAC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1669,706,717 - 69,867,760 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl669,709,114 - 69,867,648 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha672,366,015 - 72,525,097 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0670,295,425 - 70,454,897 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl670,296,050 - 70,455,316 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1669,798,107 - 69,957,045 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0669,744,317 - 69,903,731 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0670,230,805 - 70,390,076 (-)NCBIUU_Cfam_GSD_1.0
St6galnac5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505888,305,513 - 88,462,943 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365713,815,823 - 3,973,328 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365713,815,867 - 3,971,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ST6GALNAC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6136,204,374 - 136,390,995 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16136,207,838 - 136,391,083 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26126,450,055 - 126,451,320 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ST6GALNAC5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12056,110,411 - 56,299,639 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2056,113,473 - 56,131,866 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603361,222,546 - 61,409,715 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
St6galnac5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474220,023,494 - 20,188,072 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474220,021,252 - 20,188,542 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ST6GALNAC5
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
NM_030965.1(ST6GALNAC5):c.790C>T (p.His264Tyr) single nucleotide variant Malignant melanoma [RCV000060247] Chr1:77062985 [GRCh38]
Chr1:77528670 [GRCh37]
Chr1:77301258 [NCBI36]
Chr1:1p31.1		 not provided
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 copy number loss See cases [RCV000138957] Chr1:76419302..88628464 [GRCh38]
Chr1:76884987..89094147 [GRCh37]
Chr1:76657575..88866735 [NCBI36]
Chr1:1p31.1-22.2		 pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3 copy number gain not provided [RCV000585144] Chr1:72578280..77429541 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3 copy number gain See cases [RCV000510973] Chr1:74848936..80324850 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1 copy number loss See cases [RCV000510871] Chr1:75648797..77770044 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_030965.3(ST6GALNAC5):c.557A>G (p.Tyr186Cys) single nucleotide variant not specified [RCV004325379] Chr1:77044499 [GRCh38]
Chr1:77510184 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.564C>G (p.Asn188Lys) single nucleotide variant not specified [RCV004328641] Chr1:77044506 [GRCh38]
Chr1:77510191 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_030965.3(ST6GALNAC5):c.325C>T (p.Arg109Trp) single nucleotide variant not specified [RCV004298253] Chr1:77044267 [GRCh38]
Chr1:77509952 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.381C>T (p.Pro127=) single nucleotide variant not provided [RCV000966754] Chr1:77044323 [GRCh38]
Chr1:77510008 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:76862304-77444407)x1 copy number loss not provided [RCV001005116] Chr1:76862304..77444407 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3 copy number gain not provided [RCV000847465] Chr1:77153809..78015058 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic
NM_030965.3(ST6GALNAC5):c.16-5C>T single nucleotide variant not provided [RCV000961884] Chr1:76868492 [GRCh38]
Chr1:77334177 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
Single allele duplication not specified [RCV002286371] Chr1:66885559..77949895 [GRCh38]
Chr1:1p31.3-31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.938T>C (p.Ile313Thr) single nucleotide variant not specified [RCV004138677] Chr1:77063133 [GRCh38]
Chr1:77528818 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.166T>C (p.Ser56Pro) single nucleotide variant not specified [RCV004195143] Chr1:76868647 [GRCh38]
Chr1:77334332 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.737A>G (p.Asp246Gly) single nucleotide variant not specified [RCV004124562] Chr1:77050323 [GRCh38]
Chr1:77516008 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.346C>A (p.Gln116Lys) single nucleotide variant not specified [RCV004243658] Chr1:77044288 [GRCh38]
Chr1:77509973 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.376G>A (p.Ala126Thr) single nucleotide variant not specified [RCV004079997] Chr1:77044318 [GRCh38]
Chr1:77510003 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.541G>A (p.Gly181Ser) single nucleotide variant not specified [RCV004277741] Chr1:77044483 [GRCh38]
Chr1:77510168 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.460C>T (p.Arg154Cys) single nucleotide variant not specified [RCV004281283] Chr1:77044402 [GRCh38]
Chr1:77510087 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.583G>C (p.Val195Leu) single nucleotide variant not specified [RCV004292191] Chr1:77044525 [GRCh38]
Chr1:77510210 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.461G>A (p.Arg154His) single nucleotide variant not specified [RCV004277955] Chr1:77044403 [GRCh38]
Chr1:77510088 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.948T>G (p.Phe316Leu) single nucleotide variant not specified [RCV004266759] Chr1:77063143 [GRCh38]
Chr1:77528828 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.607A>G (p.Met203Val) single nucleotide variant not specified [RCV004286720] Chr1:77044549 [GRCh38]
Chr1:77510234 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:77125502-77546779)x1 copy number loss not provided [RCV003483183] Chr1:77125502..77546779 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1 copy number loss not provided [RCV003885448] Chr1:73616197..87012961 [GRCh37]
Chr1:1p31.1-22.3		 likely pathogenic
NM_030965.3(ST6GALNAC5):c.154G>A (p.Ala52Thr) single nucleotide variant not specified [RCV004463097] Chr1:76868635 [GRCh38]
Chr1:77334320 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.20A>G (p.His7Arg) single nucleotide variant not specified [RCV004463098] Chr1:76868501 [GRCh38]
Chr1:77334186 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.224G>T (p.Arg75Leu) single nucleotide variant not specified [RCV004463099] Chr1:76868705 [GRCh38]
Chr1:77334390 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.364C>T (p.Arg122Cys) single nucleotide variant not specified [RCV004463100] Chr1:77044306 [GRCh38]
Chr1:77509991 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.388G>A (p.Gly130Ser) single nucleotide variant not specified [RCV004463101] Chr1:77044330 [GRCh38]
Chr1:77510015 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.492G>C (p.Gln164His) single nucleotide variant not specified [RCV004463103] Chr1:77044434 [GRCh38]
Chr1:77510119 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.571C>T (p.Leu191Phe) single nucleotide variant not specified [RCV004463104] Chr1:77044513 [GRCh38]
Chr1:77510198 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.629T>A (p.Leu210Gln) single nucleotide variant not specified [RCV004463105] Chr1:77044571 [GRCh38]
Chr1:77510256 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.73G>A (p.Val25Met) single nucleotide variant not specified [RCV004463106] Chr1:76868554 [GRCh38]
Chr1:77334239 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.863G>A (p.Arg288Gln) single nucleotide variant not specified [RCV004463107] Chr1:77063058 [GRCh38]
Chr1:77528743 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.883C>T (p.His295Tyr) single nucleotide variant not specified [RCV004463108] Chr1:77063078 [GRCh38]
Chr1:77528763 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.892A>G (p.Ile298Val) single nucleotide variant not specified [RCV004463109] Chr1:77063087 [GRCh38]
Chr1:77528772 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.202C>T (p.Pro68Ser) single nucleotide variant not specified [RCV004675590] Chr1:76868683 [GRCh38]
Chr1:77334368 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_030965.3(ST6GALNAC5):c.463A>T (p.Asn155Tyr) single nucleotide variant not specified [RCV004675591] Chr1:77044405 [GRCh38]
Chr1:77510090 [GRCh37]
Chr1:1p31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2190
Count of miRNA genes:981
Interacting mature miRNAs:1189
Transcripts:ENST00000318803, ENST00000477717, ENST00000480428, ENST00000488940, ENST00000496845
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1578620LDLPS20_HLow density lipoprotein particle size QTL 21 (human)2.040.00046LDL particle size15253110578531105Human
407369774GWAS1018750_Hacute myeloid leukemia QTL GWAS1018750 (human)3e-08acute myeloid leukemia17700604677006047Human
407022600GWAS671576_Hbody mass index QTL GWAS671576 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)17695620376956204Human
407088744GWAS737720_Hblood protein measurement QTL GWAS737720 (human)0.000002blood protein measurementblood protein measurement (CMO:0000028)17699385276993853Human
407242122GWAS891098_Hgut microbiome measurement QTL GWAS891098 (human)3e-08gut microbiome measurement17703338677033387Human
406929709GWAS578685_Halcohol consumption measurement QTL GWAS578685 (human)6e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)17705908177059082Human
406999215GWAS648191_Htriglyceride measurement QTL GWAS648191 (human)8e-08triglyceride measurementblood triglyceride level (CMO:0000118)17699605076996051Human
406943950GWAS592926_Hbody mass index QTL GWAS592926 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)17695620376956204Human
1578602LDLPS21_HLow density lipoprotein particle size QTL 21 (human)2.050.00037LDL particle size15253110578531105Human
407074224GWAS723200_Hototoxicity, response to cisplatin QTL GWAS723200 (human)0.000005ototoxicity, response to cisplatin17698790876987909Human
407336113GWAS985089_Heducational attainment QTL GWAS985089 (human)3e-12educational attainment17695433576954336Human
406905462GWAS554438_HS-6-hydroxywarfarin measurement QTL GWAS554438 (human)0.000006S-6-hydroxywarfarin measurement17699985576999856Human
2316890GLUCO302_HGlucose level QTL 302 (human)0.005Glucose level16853299294532992Human
2289499BW445_HBody weight QTL 445 (human)2.26Body morphometrywaist to hip ratio16853299294532992Human
1578594LDLPS19_HLow density lipoprotein particle size QTL 19 (human)2.560.00009LDL particle size15253110578531105Human
1581539BP75_HBlood pressure QTL 75 (human)2.40.001Blood pressurepulse pressure16853299294532992Human
2292793PRSTS24_HProstate tumor susceptibility QTL 24 (human)Prostate tumor susceptibilitylate onset16853299294532992Human
406889883GWAS538859_Hethion measurement QTL GWAS538859 (human)0.00001dicofol measurement17697312676973127Human

Markers in Region
D1S532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,492,437 - 77,492,563UniSTSGRCh37
Build 36177,265,025 - 77,265,151RGDNCBI36
Celera175,731,870 - 75,731,996RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,622,924 - 75,623,042UniSTS
Marshfield Genetic Map1104.23RGD
Marshfield Genetic Map1104.23UniSTS
deCODE Assembly Map1102.92UniSTS
Whitehead-YAC Contig Map1 UniSTS
AFM312vg5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,457,421 - 77,457,571UniSTSGRCh37
GRCh37816,778,657 - 16,780,323UniSTSGRCh37
Build 36177,230,009 - 77,230,159RGDNCBI36
Celera815,744,879 - 15,746,545UniSTS
Celera175,696,857 - 75,697,007RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,587,333 - 75,587,483UniSTS
Whitehead-RH Map1217.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH64634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,530,078 - 77,530,201UniSTSGRCh37
Build 36177,302,666 - 77,302,789RGDNCBI36
Celera175,769,510 - 75,769,631RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,660,555 - 75,660,678UniSTS
GeneMap99-GB4 RH Map1191.86UniSTS
AL033869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,331,536 - 77,331,704UniSTSGRCh37
Build 36177,104,124 - 77,104,292RGDNCBI36
Celera175,570,979 - 75,571,147RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,461,463 - 75,461,631UniSTS
AL034274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,385,698 - 77,385,841UniSTSGRCh37
Build 36177,158,286 - 77,158,429RGDNCBI36
Celera175,625,136 - 75,625,279RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,515,622 - 75,515,765UniSTS
D1S1823E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,501 - 77,529,636UniSTSGRCh37
Build 36177,302,089 - 77,302,224RGDNCBI36
Celera175,768,933 - 75,769,068RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,659,978 - 75,660,113UniSTS
SHGC-132770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,492,434 - 77,492,752UniSTSGRCh37
Build 36177,265,022 - 77,265,340RGDNCBI36
Celera175,731,867 - 75,732,185RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,622,921 - 75,623,231UniSTS
SHGC-146255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,384,365 - 77,384,684UniSTSGRCh37
Build 36177,156,953 - 77,157,272RGDNCBI36
Celera175,623,803 - 75,624,122RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,514,289 - 75,514,608UniSTS
TNG Radiation Hybrid Map192227.0UniSTS
REN38938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,028,336 - 54,028,594UniSTSGRCh37
Build 361453,098,086 - 53,098,344RGDNCBI36
Celera1434,078,050 - 34,078,308UniSTS
Celera175,580,588 - 75,580,851RGD
Cytogenetic Map1p31.1UniSTS
HuRef1434,191,232 - 34,191,490UniSTS
REN67065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377116,097,633 - 116,097,907UniSTSGRCh37
GRCh37177,363,819 - 77,364,119UniSTSGRCh37
Build 36177,136,407 - 77,136,707RGDNCBI36
Celera7110,905,011 - 110,905,285UniSTS
Celera175,603,259 - 75,603,557RGD
Cytogenetic Map1p31.1UniSTS
HuRef518,434,956 - 18,435,231UniSTS
CRA_TCAGchr7v27115,493,035 - 115,493,309UniSTS
SHGC-75039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,399,294 - 77,399,430UniSTSGRCh37
Build 36177,171,882 - 77,172,018RGDNCBI36
Celera175,638,733 - 75,638,869RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,529,219 - 75,529,355UniSTS
TNG Radiation Hybrid Map192239.0UniSTS
GeneMap99-GB4 RH Map1207.51UniSTS
NCBI RH Map1518.0UniSTS
RH64660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,367 - 77,529,554UniSTSGRCh37
Build 36177,301,955 - 77,302,142RGDNCBI36
Celera175,768,799 - 75,768,986RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,659,844 - 75,660,031UniSTS
GeneMap99-GB4 RH Map1194.48UniSTS
SHGC-75035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,302 - 77,529,510UniSTSGRCh37
Build 36177,301,890 - 77,302,098RGDNCBI36
Celera175,768,734 - 75,768,942RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,659,779 - 75,659,987UniSTS
GeneMap99-GB4 RH Map1205.09UniSTS
NCBI RH Map1518.0UniSTS
AL009571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,440,302 - 77,440,383UniSTSGRCh37
Build 36177,212,890 - 77,212,971RGDNCBI36
Celera175,679,738 - 75,679,819RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,570,212 - 75,570,293UniSTS
D1S2202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,485 - 77,529,712UniSTSGRCh37
Build 36177,302,073 - 77,302,300RGDNCBI36
Celera175,768,917 - 75,769,144RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,659,962 - 75,660,189UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL009727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,425,579 - 77,425,728UniSTSGRCh37
Build 36177,198,167 - 77,198,316RGDNCBI36
Celera175,665,021 - 75,665,170RGD
Cytogenetic Map1p31.1UniSTS
HuRef175,555,496 - 75,555,645UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1167 2375 2644 2217 4912 1500 2087 4 428 981 269 2221 5821 5454 27 3696 1 731 1713 1547 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ507292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL954680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU742124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX284687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA166913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB715172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF548000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000318803   ⟹   ENSP00000436263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl176,867,480 - 77,064,058 (+)Ensembl
Ensembl Acc Id: ENST00000477717   ⟹   ENSP00000417583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl176,867,480 - 77,067,546 (+)Ensembl
Ensembl Acc Id: ENST00000480428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl176,867,480 - 76,871,383 (+)Ensembl
Ensembl Acc Id: ENST00000488940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl176,995,457 - 77,050,316 (+)Ensembl
Ensembl Acc Id: ENST00000496845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl176,867,482 - 76,869,074 (+)Ensembl
RefSeq Acc Id: NM_001320273   ⟹   NP_001307202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38176,867,480 - 77,067,546 (+)NCBI
CHM1_1177,448,417 - 77,648,533 (+)NCBI
T2T-CHM13v2.0176,705,077 - 76,905,729 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320274   ⟹   NP_001307203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38176,867,480 - 77,067,546 (+)NCBI
CHM1_1177,448,417 - 77,648,533 (+)NCBI
T2T-CHM13v2.0176,705,077 - 76,905,729 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030965   ⟹   NP_112227
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38176,867,480 - 77,067,546 (+)NCBI
GRCh37177,333,126 - 77,533,223 (+)NCBI
Build 36177,105,774 - 77,302,325 (+)NCBI Archive
Celera175,572,629 - 75,769,169 (+)RGD
HuRef175,463,113 - 75,660,214 (+)ENTREZGENE
CHM1_1177,448,417 - 77,648,533 (+)NCBI
T2T-CHM13v2.0176,705,077 - 76,905,729 (+)NCBI
Sequence:
RefSeq Acc Id: NP_112227   ⟸   NM_030965
- Peptide Label: isoform 1
- UniProtKB: B1AK82 (UniProtKB/Swiss-Prot),   Q9BVH7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307202   ⟸   NM_001320273
- Peptide Label: isoform 2
- UniProtKB: B4DV27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307203   ⟸   NM_001320274
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000417583   ⟸   ENST00000477717
Ensembl Acc Id: ENSP00000436263   ⟸   ENST00000318803

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVH7-F1-model_v2 AlphaFold Q9BVH7 1-336 view protein structure

Promoters
RGD ID:6855938
Promoter ID:EPDNEW_H1134
Type:initiation region
Name:ST6GALNAC5_1
Description:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38176,867,480 - 76,867,540EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19342 AgrOrtholog
COSMIC ST6GALNAC5 COSMIC
Ensembl Genes ENSG00000117069 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318803.6 UniProtKB/TrEMBL
  ENST00000477717 ENTREZGENE
  ENST00000477717.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.1480.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117069 GTEx
HGNC ID HGNC:19342 ENTREZGENE
Human Proteome Map ST6GALNAC5 Human Proteome Map
InterPro Glyco_trans_29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GT29-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sialyl_trans UniProtKB/Swiss-Prot
KEGG Report hsa:81849 UniProtKB/Swiss-Prot
NCBI Gene 81849 ENTREZGENE
OMIM 610134 OMIM
PANTHER ALPHA-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45906 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134924485 PharmGKB
PIRSF Sialyl_trans UniProtKB/Swiss-Prot
UniProt B1AK82 ENTREZGENE
  B4DV27 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2C8_HUMAN UniProtKB/TrEMBL
  Q9BVH7 ENTREZGENE, UniProtKB/Swiss-Prot
  V5N4G2_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AK82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 ST6GALNAC5  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5  ST6GALNAC5  ST6 GalNAc alpha-2,6-sialyltransferase 5  Symbol and/or name change 5135510 APPROVED
2016-04-26 ST6GALNAC5  ST6 GalNAc alpha-2,6-sialyltransferase 5  ST6GALNAC5  ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5  Symbol and/or name change 5135510 APPROVED