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Aliases for DOLK Gene

Aliases for DOLK Gene

  • Dolichol Kinase 2 3 5
  • Transmembrane Protein 15 2 3 4
  • Dolichol Kinase 1 2 3
  • TMEM15 3 4
  • SEC59 Homolog 3
  • EC 2.7.1.108 4
  • KIAA1094 4
  • CDG1M 3
  • SEC59 3
  • DK1 3
  • DK 3

External Ids for DOLK Gene

Previous HGNC Symbols for DOLK Gene

  • TMEM15

Previous GeneCards Identifiers for DOLK Gene

  • GC09M130749
  • GC09M131707
  • GC09M101315

Summaries for DOLK Gene

Entrez Gene Summary for DOLK Gene

  • The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]

GeneCards Summary for DOLK Gene

DOLK (Dolichol Kinase) is a Protein Coding gene. Diseases associated with DOLK include Congenital Disorder Of Glycosylation, Type Im and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include dolichol kinase activity.

UniProtKB/Swiss-Prot for DOLK Gene

  • Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.

Gene Wiki entry for DOLK Gene

Additional gene information for DOLK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOLK Gene

Genomics for DOLK Gene

Regulatory Elements for DOLK Gene

Enhancers for DOLK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H128909 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +35.5 35498 5 HDAC1 ELF3 PKNOX1 FOXA2 INSM2 ARID4B KLF17 RAD21 THRB ZBTB7B LRRC8A KYAT1 PHYHD1 NUP188 DOLK SPOUT1 ZDHHC12 LOC100506100 PKN3 GLE1
GH09H128889 1.4 Ensembl ENCODE dbSUPER 12 +55.8 55803 4 ZSCAN4 KLF17 SIN3A NFXL1 ZBTB7B GLIS2 EGR1 SCRT2 RCOR1 FOS PKN3 SPOUT1 PHYHD1 DOLK NUP188 ZDHHC12 LOC100506100 SPTAN1 LOC101929270 KYAT1
GH09H128877 1.4 ENCODE dbSUPER 12 +64.5 64450 12 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SPOUT1 PHYHD1 DOLK NUP188 PKN3 ZDHHC12 LOC100506100 SPTAN1 LOC101929270 KYAT1
GH09H129574 1.3 Ensembl ENCODE dbSUPER 12.4 -628.4 -628447 3 BCOR ZNF777 SUZ12 JUN ZSCAN4 ZNF175 MAX ZNF266 ZMYM3 CEBPG NUP188 TOR1B SPOUT1 SET DOLK NTMT1 C9orf50 PKN3 LOC105376292
GH09H128844 1.4 Ensembl ENCODE dbSUPER 11.4 +101.9 101853 2 HDGF PKNOX1 FOXA2 ARNT SIN3A TCF12 GATA2 FOS ATF7 NCOA1 SPOUT1 KYAT1 LRRC8A DOLK NUP188 TBC1D13 PHYHD1 ZDHHC12 LOC100506100 PKN3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOLK on UCSC Golden Path with GeneCards custom track

Promoters for DOLK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241930 -167 1801 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for DOLK Gene

Chromosome:
9
Start:
128,945,530 bp from pter
End:
128,947,733 bp from pter
Size:
2,204 bases
Orientation:
Minus strand

Genomic View for DOLK Gene

Genes around DOLK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOLK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOLK Gene

Proteins for DOLK Gene

  • Protein details for DOLK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPQ8-DOLK_HUMAN
    Recommended name:
    Dolichol kinase
    Protein Accession:
    Q9UPQ8
    Secondary Accessions:
    • Q5SRE6

    Protein attributes for DOLK Gene

    Size:
    538 amino acids
    Molecular mass:
    59268 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.
    SequenceCaution:
    • Sequence=BAA83046.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DOLK Gene

Post-translational modifications for DOLK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOLK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DOLK Gene

Domains & Families for DOLK Gene

Gene Families for DOLK Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for DOLK Gene

Suggested Antigen Peptide Sequences for DOLK Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPQ8

UniProtKB/Swiss-Prot:

DOLK_HUMAN :
  • Belongs to the polyprenol kinase family.
Family:
  • Belongs to the polyprenol kinase family.
genes like me logo Genes that share domains with DOLK: view

Function for DOLK Gene

Molecular function for DOLK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + dolichol = CDP + dolichyl phosphate.
UniProtKB/Swiss-Prot Function:
Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.

Enzyme Numbers (IUBMB) for DOLK Gene

Phenotypes From GWAS Catalog for DOLK Gene

Gene Ontology (GO) - Molecular Function for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004168 dolichol kinase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DOLK: view
genes like me logo Genes that share phenotypes with DOLK: view

Human Phenotype Ontology for DOLK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DOLK Gene

MGI Knock Outs for DOLK:

Animal Model Products

  • Taconic Biosciences Mouse Models for DOLK

CRISPR Products

miRNA for DOLK Gene

miRTarBase miRNAs that target DOLK

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOLK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for DOLK Gene

Localization for DOLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOLK Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOLK gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 16923818
genes like me logo Genes that share ontologies with DOLK: view

Pathways & Interactions for DOLK Gene

genes like me logo Genes that share pathways with DOLK: view

Gene Ontology (GO) - Biological Process for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IBA --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0016310 phosphorylation IEA --
GO:0043048 dolichyl monophosphate biosynthetic process IDA 12213788
genes like me logo Genes that share ontologies with DOLK: view

No data available for SIGNOR curated interactions for DOLK Gene

Drugs & Compounds for DOLK Gene

(2) Drugs for DOLK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0

(1) Additional Compounds for DOLK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
genes like me logo Genes that share compounds with DOLK: view

Transcripts for DOLK Gene

mRNA/cDNA for DOLK Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(431) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DOLK Gene

Dolichol kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOLK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DOLK Gene

No ASD Table

Relevant External Links for DOLK Gene

GeneLoc Exon Structure for
DOLK
ECgene alternative splicing isoforms for
DOLK

Expression for DOLK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOLK Gene

Protein differential expression in normal tissues from HIPED for DOLK Gene

This gene is overexpressed in Liver (47.0), Placenta (15.6), and Islet of Langerhans (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOLK Gene



Protein tissue co-expression partners for DOLK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOLK Gene:

DOLK

SOURCE GeneReport for Unigene cluster for DOLK Gene:

Hs.531563

mRNA Expression by UniProt/SwissProt for DOLK Gene:

Q9UPQ8-DOLK_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DOLK Gene

  • Nervous system(4.5)
  • Spleen(4.3)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOLK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
  • pituitary gland
Thorax:
  • breast
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • spleen
Pelvis:
  • ovary
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with DOLK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DOLK Gene

Orthologs for DOLK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOLK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOLK 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia DOLK 33 34
  • 89.71 (n)
dog
(Canis familiaris)
Mammalia DOLK 33
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Dolk 33
  • 89.04 (n)
mouse
(Mus musculus)
Mammalia Dolk 33 16 34
  • 88.55 (n)
oppossum
(Monodelphis domestica)
Mammalia DOLK 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOLK 33 34 34
  • 71.01 (n)
lizard
(Anolis carolinensis)
Reptilia DOLK 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dolk 33
  • 68.16 (n)
zebrafish
(Danio rerio)
Actinopterygii dolk 33 34
  • 62.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8311 34
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.36 34
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC59 34 36
  • 24 (a)
OneToOne
Species where no ortholog for DOLK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOLK Gene

ENSEMBL:
Gene Tree for DOLK (if available)
TreeFam:
Gene Tree for DOLK (if available)

Paralogs for DOLK Gene

No data available for Paralogs for DOLK Gene

Variants for DOLK Gene

Sequence variations from dbSNP and Humsavar for DOLK Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs137853109 Pathogenic, Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] 128,947,009(-) AGCGG(A/T)GCCAG upstream-variant-2KB, reference, missense
rs137853110 Pathogenic, Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] 128,945,982(-) CCCCT(A/C)TGCCG upstream-variant-2KB, reference, missense
rs387907030 Pathogenic 128,946,082(-) TGACA(C/G)ACATC upstream-variant-2KB, reference, missense
rs587777137 Pathogenic 128,947,302(+) GGGTC(A/G)TATCT upstream-variant-2KB, reference, missense
rs727503904 Pathogenic 128,945,857(-) TTGCG(A/C)AGATC upstream-variant-2KB, reference, missense

Variation tolerance for DOLK Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOLK Gene

Human Gene Mutation Database (HGMD)
DOLK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOLK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DOLK Gene

Disorders for DOLK Gene

MalaCards: The human disease database

(4) MalaCards diseases for DOLK Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type im
  • cdg1m
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
epileptic encephalopathy, early infantile, 36
  • congenital disorder of glycosylation, type iu
middle ear disease
  • abnormality of the middle ear
- elite association - COSMIC cancer census association via MalaCards
Search DOLK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOLK_HUMAN
  • Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life. {ECO:0000269 PubMed:17273964}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DOLK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOLK
genes like me logo Genes that share disorders with DOLK: view

No data available for Genatlas for DOLK Gene

Publications for DOLK Gene

  1. Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site. (PMID: 16923818) Shridas P … Waechter CJ (The Journal of biological chemistry 2006) 2 3 4 60
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 60
  3. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. (PMID: 17273964) Kranz C … Marquardt T (American journal of human genetics 2007) 3 4 60
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DOLK Gene

Sources for DOLK Gene

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