DOLK (dolichol kinase) - Rat Genome Database

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Gene: DOLK (dolichol kinase) Homo sapiens
Analyze
Symbol: DOLK
Name: dolichol kinase
RGD ID: 1321943
HGNC Page HGNC:23406
Description: Enables dolichol kinase activity. Involved in several processes, including dolichol phosphate mannose biosynthetic process; dolichyl monophosphate biosynthetic process; and protein glycosylation. Located in endoplasmic reticulum membrane. Implicated in congenital disorder of glycosylation Im.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG1M; DK; DK1; dolichol kinase 1; KIAA1094; SEC59; SEC59 homolog; TMEM15; transmembrane protein 15
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh389128,945,530 - 128,947,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,707,809 - 131,709,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,747,630 - 130,749,833 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,787,362 - 128,789,566NCBI
Celera9102,359,670 - 102,361,873 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,315,528 - 101,317,731 (-)NCBIHuRef
CHM1_19131,858,858 - 131,861,061 (-)NCBICHM1_1
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 20 of 37 rows
Object Symbol
Species
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Evidence
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Reference
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Original Reference(s)
DOLKHumancongenital disorder of glycosylation  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylationClinVarPMID:25741868
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:22242004 and PMID:25741868
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:22242004
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:24033266 more ...
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVar 
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:24033266 more ...
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylationClinVarPMID:28492532 and PMID:34956305
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:17273964
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:28492532 and PMID:31983221
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:25741868 more ...
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:22242004 more ...
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:23806237 and PMID:28492532
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCYClinVarPMID:25741868 more ...
DOLKHumancongenital disorder of glycosylation Im  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1MClinVarPMID:24144945 more ...
1 to 20 of 37 rows
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Original Reference(s)
DOLKHumancongenital disorder of glycosylation Im  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
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Original Reference(s)
DOLKHumancongenital disorder of glycosylation Im  IAGP 7240710 OMIM 

1 to 20 of 56 rows

  
Object Symbol
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Original Reference(s)
DOLKHuman(+)-schisandrin B multiple interactionsISODolk (Rattus norvegicus)6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of DOLK mRNA]CTDPMID:31150632
DOLKHuman1,2-dimethylhydrazine multiple interactionsISODolk (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DOLK mRNACTDPMID:22206623
DOLKHuman17beta-estradiol increases expressionISODolk (Mus musculus)6480464Estradiol results in increased expression of DOLK mRNACTDPMID:39298647
DOLKHuman2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:19095052
DOLKHuman2,2',4,4'-Tetrabromodiphenyl ether affects expressionISODolk (Mus musculus)64804642 more ...CTDPMID:30294300
DOLKHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISODolk (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of DOLK mRNACTDPMID:21570461
DOLKHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODolk (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of DOLK mRNACTDPMID:33387578
DOLKHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISODolk (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of DOLK mRNACTDPMID:31961203
DOLKHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODolk (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of DOLK mRNACTDPMID:28213091
DOLKHuman2-hydroxypropanoic acid decreases expressionEXP 6480464Lactic Acid results in decreased expression of DOLK mRNACTDPMID:30851411
DOLKHuman3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of DOLK mRNACTDPMID:28628672
DOLKHuman4,4'-diaminodiphenylmethane decreases expressionISODolk (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in decreased expression of DOLK mRNACTDPMID:18648102
DOLKHumanbenzene increases expressionEXP 6480464Benzene results in increased expression of DOLK mRNACTDPMID:19162166
DOLKHumanbisphenol A increases expressionISODolk (Rattus norvegicus)6480464bisphenol A results in increased expression of DOLK mRNACTDPMID:25181051
DOLKHumanbisphenol A increases expressionISODolk (Mus musculus)6480464bisphenol A results in increased expression of DOLK mRNACTDPMID:33221593
DOLKHumanbisphenol A decreases expressionISODolk (Rattus norvegicus)6480464bisphenol A results in decreased expression of DOLK mRNACTDPMID:30816183 and PMID:32528016
DOLKHumanbisphenol F multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of DOLK mRNACTDPMID:28628672
DOLKHumancadmium dichloride decreases expressionEXP 6480464Cadmium Chloride results in decreased expression of DOLK mRNACTDPMID:38568856
DOLKHumanCGP 52608 multiple interactionsEXP 6480464CGP 52608 promotes the reaction [RORA protein binds to DOLK gene]CTDPMID:28238834
DOLKHumancholine multiple interactionsISODolk (Mus musculus)6480464[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of DOLK geneCTDPMID:20938992

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Biological Process
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1 to 9 of 9 rows

Cellular Component

  
Object Symbol
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Reference
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Original Reference(s)
DOLKHumanendoplasmic reticulum located_inIEAUniProtKB-KW:KW-0256150520179 UniProtGO_REF:0000043
DOLKHumanendoplasmic reticulum membrane is_active_inIBAPANTHER:PTN000324722 more ...150520179 GO_CentralGO_REF:0000033
DOLKHumanendoplasmic reticulum membrane located_inIDA 150520179 PMID:16923818UniProtPMID:16923818
DOLKHumanendoplasmic reticulum membrane located_inIEAUniProtKB-SubCell:SL-0097150520179 UniProtGO_REF:0000044
DOLKHumanendoplasmic reticulum membrane located_inTAS 150520179 ReactomeReactome:R-HSA-446195 and Reactome:R-HSA-4755600
DOLKHumanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043

Molecular Function
1 to 12 of 12 rows

  
1 to 12 of 12 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DOLKHumanN-linked glycan biosynthetic pathway  IEA 6907045 KEGGhsa:00510
1 to 20 of 71 rows
Object Symbol
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Term
Qualifier
Evidence
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Reference
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Source
Original Reference(s)
DOLKHumanAbnormal circulating enzyme concentration or activity  IAGP 8699517 HPOORPHA:91131
DOLKHumanAbsent speech  IAGP 8699517 HPOORPHA:91131
DOLKHumanAlopecia  IAGP 8699517 HPOMIM:610768
DOLKHumanArrhythmia  IAGP 8699517 HPOORPHA:154
DOLKHumanArrhythmia  IAGP 8699517 HPOORPHA:91131
DOLKHumanAspiration  IAGP 8699517 HPOMIM:610768
DOLKHumanAutistic behavior  IAGP 8699517 HPOORPHA:91131
DOLKHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:610768
DOLKHumanBilateral tonic-clonic seizure  IAGP 8699517 HPOORPHA:91131
DOLKHumanBradycardia  IAGP 8699517 HPOMIM:610768
DOLKHumanCardiomyocyte hypertrophy  IAGP 8699517 HPOORPHA:91131
DOLKHumanCongenital onset  IAGP 8699517 HPOMIM:610768
DOLKHumanCongestive heart failure  IAGP 8699517 HPOORPHA:154
DOLKHumanCongestive heart failure  IAGP 8699517 HPOORPHA:91131
DOLKHumanDeath in infancy  IAGP 8699517 HPOMIM:610768
DOLKHumanDelayed ability to stand  IAGP 8699517 HPOORPHA:91131
DOLKHumanDelayed ability to walk  IAGP 8699517 HPOORPHA:91131
DOLKHumanDiarrhea  IAGP 8699517 HPOMIM:610768
DOLKHumanDilated cardiomyopathy  IAGP 8699517 HPOORPHA:154
DOLKHumanDilated cardiomyopathy  IAGP 8699517 HPOMIM:610768
1 to 20 of 71 rows
Object Symbol
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Reference
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Source
Original Reference(s)
DOLKHumanDystonia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DystoniaClinVarPMID:28492532

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
PMID:8125298   PMID:10470851   PMID:12213788   PMID:12477932   PMID:12975309   PMID:15164053   PMID:15489334   PMID:16923818   PMID:17273964   PMID:20301507   PMID:21516116   PMID:21873635  
PMID:22242004   PMID:25416956   PMID:26186194   PMID:26871637   PMID:28380382   PMID:28514442   PMID:28816422   PMID:32250540   PMID:32296183   PMID:33845483   PMID:33961781   PMID:34373451  



DOLK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,945,530 - 128,947,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,707,809 - 131,709,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,747,630 - 130,749,833 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,787,362 - 128,789,566NCBI
Celera9102,359,670 - 102,361,873 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,315,528 - 101,317,731 (-)NCBIHuRef
CHM1_19131,858,858 - 131,861,061 (-)NCBICHM1_1
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBIT2T-CHM13v2.0
Dolk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,174,241 - 30,176,366 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl230,174,243 - 30,176,346 (-)EnsemblGRCm39 Ensembl
GRCm38230,284,229 - 30,286,354 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,284,231 - 30,286,334 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,139,749 - 30,141,874 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36230,106,271 - 30,108,088 (-)NCBIMGSCv36mm8
Celera229,988,986 - 29,991,111 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map221.49NCBI
Dolk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8333,955,642 - 33,957,680 (-)NCBIGRCr8
mRatBN7.2313,557,826 - 13,559,864 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl313,557,817 - 13,559,917 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx316,629,326 - 16,631,364 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0325,214,289 - 25,216,327 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0323,460,056 - 23,462,094 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.038,850,154 - 8,852,192 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,850,154 - 8,852,192 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0314,203,104 - 14,205,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.439,329,640 - 9,331,678 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.139,330,107 - 9,331,718 (-)NCBI
Celera38,324,376 - 8,326,414 (-)NCBICelera
Cytogenetic Map3p12NCBI
Dolk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555701,311,056 - 1,312,672 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555701,310,894 - 1,312,952 (-)NCBIChiLan1.0ChiLan1.0
DOLK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21110,404,989 - 10,406,905 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1910,407,463 - 10,409,253 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09100,067,512 - 100,069,596 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19128,731,590 - 128,733,787 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9128,731,747 - 128,733,363 (-)Ensemblpanpan1.1panPan2
DOLK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,712,920 - 54,715,005 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,713,239 - 54,714,849 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,908,459 - 53,910,563 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0955,633,974 - 55,636,078 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl955,634,308 - 55,635,918 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1954,395,110 - 54,397,213 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0954,707,475 - 54,709,579 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0954,801,029 - 54,803,133 (+)NCBIUU_Cfam_GSD_1.0
Dolk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947196,637,315 - 196,639,936 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648716,406,529 - 16,408,145 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648716,406,385 - 16,408,546 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DOLK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,257,540 - 269,259,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,257,386 - 269,259,484 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,273,506 - 303,275,598 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DOLK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1129,213,463 - 9,215,659 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl129,213,888 - 9,215,504 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666096340,595 - 342,677 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dolk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247606,107,162 - 6,108,778 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247606,106,890 - 6,108,939 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in DOLK
522 total Variants

1 to 10 of 598 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000703948]|not provided [RCV000519803] Chr9:128946373 [GRCh38]
Chr9:131708652 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) single nucleotide variant Cardiovascular phenotype [RCV002395250]|DK1-congenital disorder of glycosylation [RCV000527496]|not specified [RCV000521128] Chr9:128945823 [GRCh38]
Chr9:131708102 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014908.4(DOLK):c.703G>A (p.Val235Ile) single nucleotide variant Cardiovascular phenotype [RCV003302824]|DK1-congenital disorder of glycosylation [RCV000532898] Chr9:128946601 [GRCh38]
Chr9:131708880 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.975C>A (p.Ser325=) single nucleotide variant DK1-congenital disorder of glycosylation [RCV001462103] Chr9:128946329 [GRCh38]
Chr9:131708608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023836] Chr9:128946392 [GRCh38]
Chr9:131708671 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023837] Chr9:128947301 [GRCh38]
Chr9:131709580 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_014908.4(DOLK):c.137C>T (p.Ala46Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000639759] Chr9:128947167 [GRCh38]
Chr9:131709446 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.873C>T (p.Leu291=) single nucleotide variant Cardiovascular phenotype [RCV002377067]|DK1-congenital disorder of glycosylation [RCV000546812]|not provided [RCV000604341]|not specified [RCV003230536] Chr9:128946431 [GRCh38]
Chr9:131708710 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014908.4(DOLK):c.206C>T (p.Ala69Val) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000797685]|not provided [RCV000521716] Chr9:128947098 [GRCh38]
Chr9:131709377 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) single nucleotide variant DK1-congenital disorder of glycosylation [RCV000023835] Chr9:128946082 [GRCh38]
Chr9:131708361 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
1 to 10 of 598 rows

Predicted Target Of
Summary Value
Count of predictions:172
Count of miRNA genes:159
Interacting mature miRNAs:169
Transcripts:ENST00000372586
Prediction methods: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.

ECD07840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,593 - 131,709,263UniSTSGRCh37
Build 369130,748,414 - 130,749,084RGDNCBI36
Celera9102,360,454 - 102,361,124RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,312 - 101,316,982UniSTS
ECD08075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,855 - 131,708,519UniSTSGRCh37
Build 369130,747,676 - 130,748,340RGDNCBI36
Celera9102,359,716 - 102,360,380RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,574 - 101,316,238UniSTS
ECD10329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,266 - 131,709,870UniSTSGRCh37
Build 369130,749,087 - 130,749,691RGDNCBI36
Celera9102,361,127 - 102,361,731RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,985 - 101,317,589UniSTS
ECD11198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,063 - 131,710,642UniSTSGRCh37
Build 369130,749,884 - 130,750,463RGDNCBI36
Celera9102,361,924 - 102,362,503RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,782 - 101,318,361UniSTS
ECD23487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,711,384 - 131,711,571UniSTSGRCh37
Build 369130,751,205 - 130,751,392RGDNCBI36
Celera9102,363,246 - 102,363,433RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,319,104 - 101,319,291UniSTS
REN36741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,734 - 131,710,958UniSTSGRCh37
Build 369130,750,555 - 130,750,779RGDNCBI36
Celera9102,362,595 - 102,362,819RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,453 - 101,318,677UniSTS
REN36742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,497 - 131,710,743UniSTSGRCh37
Build 369130,750,318 - 130,750,564RGDNCBI36
Celera9102,362,358 - 102,362,604RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,216 - 101,318,462UniSTS
REN36743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,287 - 131,710,517UniSTSGRCh37
Build 369130,750,108 - 130,750,338RGDNCBI36
Celera9102,362,148 - 102,362,378RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,318,006 - 101,318,236UniSTS
REN36744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,063 - 131,710,292UniSTSGRCh37
Build 369130,749,884 - 130,750,113RGDNCBI36
Celera9102,361,924 - 102,362,153RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,782 - 101,318,011UniSTS
REN36745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,809 - 131,710,039UniSTSGRCh37
Build 369130,749,630 - 130,749,860RGDNCBI36
Celera9102,361,670 - 102,361,900RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,528 - 101,317,758UniSTS
REN36746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,579 - 131,709,832UniSTSGRCh37
Build 369130,749,400 - 130,749,653RGDNCBI36
Celera9102,361,440 - 102,361,693RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,298 - 101,317,551UniSTS
REN36747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,356 - 131,709,601UniSTSGRCh37
Build 369130,749,177 - 130,749,422RGDNCBI36
Celera9102,361,217 - 102,361,462RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,317,075 - 101,317,320UniSTS
REN36748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,709,150 - 131,709,376UniSTSGRCh37
Build 369130,748,971 - 130,749,197RGDNCBI36
Celera9102,361,011 - 102,361,237RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,869 - 101,317,095UniSTS
REN36749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,927 - 131,709,174UniSTSGRCh37
Build 369130,748,748 - 130,748,995RGDNCBI36
Celera9102,360,788 - 102,361,035RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,646 - 101,316,893UniSTS
REN36750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,708 - 131,708,949UniSTSGRCh37
Build 369130,748,529 - 130,748,770RGDNCBI36
Celera9102,360,569 - 102,360,810RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,427 - 101,316,668UniSTS
REN36751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,455 - 131,708,718UniSTSGRCh37
Build 369130,748,276 - 130,748,539RGDNCBI36
Celera9102,360,316 - 102,360,579RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,316,174 - 101,316,437UniSTS
REN36752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,212 - 131,708,477UniSTSGRCh37
Build 369130,748,033 - 130,748,298RGDNCBI36
Celera9102,360,073 - 102,360,338RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,931 - 101,316,196UniSTS
REN36753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,997 - 131,708,234UniSTSGRCh37
Build 369130,747,818 - 130,748,055RGDNCBI36
Celera9102,359,858 - 102,360,095RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,716 - 101,315,953UniSTS
REN36754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,790 - 131,708,014UniSTSGRCh37
Build 369130,747,611 - 130,747,835RGDNCBI36
Celera9102,359,651 - 102,359,875RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,509 - 101,315,733UniSTS
TMEM15_9275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,790 - 131,708,692UniSTSGRCh37
Build 369130,747,611 - 130,748,513RGDNCBI36
Celera9102,359,651 - 102,360,553RGD
HuRef9101,315,509 - 101,316,411UniSTS
stSG628087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,707,877 - 131,708,943UniSTSGRCh37
Build 369130,747,698 - 130,748,764RGDNCBI36
Celera9102,359,738 - 102,360,804RGD
Cytogenetic Map9q34.11UniSTS
HuRef9101,315,596 - 101,316,662UniSTS
stSG628088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,708,924 - 131,710,311UniSTSGRCh37
Build 369130,748,745 - 130,750,132RGDNCBI36
Celera9102,360,785 - 102,362,172RGD
HuRef9101,316,643 - 101,318,030UniSTS
stSG628089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,710,292 - 131,711,563UniSTSGRCh37
Build 369130,750,113 - 130,751,384RGDNCBI36
Celera9102,362,153 - 102,363,425RGD
HuRef9101,318,011 - 101,319,283UniSTS




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
1204 2439 2788 2253 4973 1726 2351 5 624 1949 465 2269 7303 6469 53 3734 1 852 1744 1617 175 1



Ensembl Acc Id: ENST00000372586   ⟹   ENSP00000361667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,945,530 - 128,947,603 (-)Ensembl
RefSeq Acc Id: NM_014908   ⟹   NP_055723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,945,530 - 128,947,603 (-)NCBI
GRCh379131,707,809 - 131,710,012 (-)RGD
Build 369130,747,630 - 130,749,833 (-)NCBI Archive
Celera9102,359,670 - 102,361,873 (-)RGD
HuRef9101,315,528 - 101,317,731 (-)RGD
CHM1_19131,858,858 - 131,861,061 (-)NCBI
T2T-CHM13v2.09141,148,939 - 141,151,012 (-)NCBI
Sequence:
1 to 11 of 11 rows
Protein RefSeqs NP_055723 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35556 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89119 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34011 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34012 (Get FASTA)   NCBI Sequence Viewer  
  BAA83046 (Get FASTA)   NCBI Sequence Viewer  
  BAG61959 (Get FASTA)   NCBI Sequence Viewer  
  EAW87849 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000361667
  ENSP00000361667.3
GenBank Protein Q9UPQ8 (Get FASTA)   NCBI Sequence Viewer  
1 to 11 of 11 rows
RefSeq Acc Id: NP_055723   ⟸   NM_014908
- UniProtKB: Q5SRE6 (UniProtKB/Swiss-Prot),   Q9UPQ8 (UniProtKB/Swiss-Prot),   A0A0S2Z597 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361667   ⟸   ENST00000372586

Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPQ8-F1-model_v2 AlphaFold Q9UPQ8 1-538 view protein structure



1 to 20 of 20 rows
Database
Acc Id
Source(s)
COSMIC DOLK COSMIC
Ensembl Genes ENSG00000175283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372586 ENTREZGENE
  ENST00000372586.4 UniProtKB/Swiss-Prot
GTEx ENSG00000175283 GTEx
HGNC ID HGNC:23406 ENTREZGENE
Human Proteome Map DOLK Human Proteome Map
InterPro Polypren_kinase UniProtKB/Swiss-Prot
KEGG Report hsa:22845 UniProtKB/Swiss-Prot
NCBI Gene 22845 ENTREZGENE
OMIM 610746 OMIM
PANTHER PTHR13205 UniProtKB/Swiss-Prot
  PTHR13205:SF15 UniProtKB/Swiss-Prot
PharmGKB PA162384054 PharmGKB
UniProt A0A0S2Z597 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5Y1_HUMAN UniProtKB/TrEMBL
  DOLK_HUMAN UniProtKB/Swiss-Prot
  Q5SRE6 ENTREZGENE
  Q9UPQ8 ENTREZGENE
UniProt Secondary Q5SRE6 UniProtKB/Swiss-Prot
1 to 20 of 20 rows