Aliases for DPM1 Gene
Aliases for DPM1 Gene
- Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic 2 3 5
- Dolichyl-Phosphate Beta-D-Mannosyltransferase Subunit 1 3 4
- Dolichol-Phosphate Mannose Synthase Subunit 1 3 4
- DPM Synthase Complex, Catalytic Subunit 2 3
- Mannose-P-Dolichol Synthase Subunit 1 3 4
- DPM Synthase Subunit 1 3 4
- MPD Synthase Subunit 1 3 4
- Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic Subunit 2
External Ids for DPM1 Gene
- HGNC: 3005
- Entrez Gene: 8813
- Ensembl: ENSG00000000419
- OMIM: 603503
- UniProtKB: O60762
Previous GeneCards Identifiers for DPM1 Gene
- GC20M049279
- GC20M050189
- GC20M050236
- GC20M048985
- GC20M049551
- GC20M046299
Summaries for DPM1 Gene
-
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
GeneCards Summary for DPM1 Gene
DPM1 (Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic) is a Protein Coding gene. Diseases associated with DPM1 include Congenital Disorder Of Glycosylation, Type Ie and Multiple Personality Disorder. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and dolichyl-phosphate-mannose-protein mannosyltransferase activity.
UniProtKB/Swiss-Prot for DPM1 Gene
-
Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.
Additional gene information for DPM1 Gene
- Monarch Initiative
- Search for DPM1 at DataMed
- Search for DPM1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPM1 Gene
Genomics for DPM1 Gene
GeneHancer (GH) Regulatory Elements for DPM1 Gene
Promoters and enhancers for DPM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DPM1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DPM1 gene promoter:
-
- STAT5A
- NRF-2
- c-Myc
- Max1
- C/EBPalpha
- HOXA5
- COMP1
- CUTL1
Regulatory Element Products
Genomic Locations for DPM1 Gene
Genomic Locations for DPM1 Gene
- chr20:50,934,855-50,958,561
- (GRCh38/hg38)
- Size:
- 23,707 bases
- Orientation:
- Minus strand
- chr20:49,551,404-49,575,092
- (GRCh37/hg19)
- Size:
- 23,689 bases
- Orientation:
- Minus strand
Genomic View for DPM1 Gene
Genes around DPM1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.13 by Entrez Gene
- 20q13.13 by HGNC
- 20q13.13 by Ensembl
DPM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DPM1 Gene
Proteins for DPM1 Gene
-
Protein details for DPM1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60762-DPM1_HUMAN
- Recommended name:
- Dolichol-phosphate mannosyltransferase subunit 1
- Protein Accession:
- O60762
- O15157
- Q6IB78
- Q96HK0
Protein attributes for DPM1 Gene
- Size:
- 260 amino acids
- Molecular mass:
- 29634 Da
- Quaternary structure:
-
- Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex interacts directly with DPM3.
Protein Expression for DPM1 Gene
Post-translational modifications for DPM1 Gene
Other Protein References for DPM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DPM1
-
Abcam antibodies for DPM1
- Invitrogen Antibodies for DPM1 (AFLGC-DPM1)
- GeneTex DPM1 Antibody for DPM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DPM1
- Sino Biological Antibodies for DPM1
Protein Products
-
OriGene Purified Proteins for DPM1
- Search Origene for MassSpec and Protein Over-expression Lysates for DPM1
- Origene Custom Protein Services for DPM1
- Search GeneTex for Proteins for DPM1
-
Abcam proteins for DPM1
Assay Products
- antibodies-online: Search results for available DPM1 related products ranked by validation data
No data available for DME Specific Peptides for DPM1 Gene
Domains & Families for DPM1 Gene
Gene Families for DPM1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DPM1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DPM1 Gene
Graphical View of Domain Structure for InterPro Entry
O60762- Family:
-
- Belongs to the glycosyltransferase 2 family.
Function for DPM1 Gene
Molecular function for DPM1 Gene
- UniProtKB/Swiss-Prot Function:
- Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.
- UniProtKB/Swiss-Prot CatalyticActivity:
- GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate.
Enzyme Numbers (IUBMB) for DPM1 Gene
Phenotypes From GWAS Catalog for DPM1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004169 | dolichyl-phosphate-mannose-protein mannosyltransferase activity | IDA | 9535917 |
| GO:0004582 | dolichyl-phosphate beta-D-mannosyltransferase activity | IEA,IDA | 9535917 |
| GO:0005515 | protein binding | IPI | 10835346 |
| GO:0005537 | mannose binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for DPM1 Gene
- MGI mutant phenotypes for DPM1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DPM1:
Animal Models for DPM1 Gene
- MGI Knock Outs for DPM1:
-
- Dpm1 Dpm1<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DPM1
-
CRISPR Products
-
OriGene CRISPR knockouts for DPM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DPM1
- genomics-online: gRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- Applied Biological Materials CRISPR for DPM1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPM1
- GenScript: Design CRISPR guide RNA sequences for DPM1
miRNA for DPM1 Gene
- miRTarBase miRNAs that target DPM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPM1
- Browse OriGene Inhibitory RNA Products For DPM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPM1
- genomics-online: shRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DPM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DPM1
- Applied Biological Materials Clones for DPM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DPM1
No data available for Transcription Factor Targets and HOMER Transcription for DPM1 Gene
Localization for DPM1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DPM1 Gene
- Endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005783 | endoplasmic reticulum | IDA | 9724629 |
| GO:0005789 | endoplasmic reticulum membrane | TAS,IDA | -- |
| GO:0016020 | membrane | IDA | 9535917 |
| GO:0033185 | dolichol-phosphate-mannose synthase complex | IDA | 9724629 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPM1 Gene
Pathways & Interactions for DPM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Synthesis of substrates in N-glycan biosythesis | ||
| 3 | Metabolism of proteins | ||
| 4 | Metabolism | ||
| 5 | Transport to the Golgi and subsequent modification | ||
Pathways by source for DPM1 Gene
7 Reactome pathways for DPM1 Gene
2 KEGG pathways for DPM1 Gene
UniProtKB/Swiss-Prot O60762-DPM1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for DPM1 Gene
Selected Interacting proteins:
ENSP00000360644
O60762-DPM1_HUMAN
for DPM1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for DPM1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006506 | GPI anchor biosynthetic process | IDA | 9535917 |
| GO:0018279 | protein N-linked glycosylation via asparagine | TAS | -- |
| GO:0019348 | dolichol metabolic process | IDA,IEA | 9535917 |
| GO:0019673 | GDP-mannose metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for DPM1 Gene
Drugs & Compounds for DPM1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Dolichol-20 |
|
2067-66-5 |
|
|||
| Dolichyl beta-D-mannosyl phosphate |
|
|
||||
| Dolichyl phosphate D-mannose |
|
908211-94-9 |
|
|||
| Guanosine diphosphate mannose |
|
3123-67-9 |
|
Drug Products
Transcripts for DPM1 Gene
mRNA/cDNA for DPM1 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (476) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000371588 1075 bps (uc002xvw.2)
- ENST00000466152 1097 bps (uc002xvx.2)
- ENST00000371582 1161 bps (uc061xsu.1)
- ENST00000494752 789 bps (uc061xsv.1)
- ENST00000371584 1073 bps (uc061xsw.1)
Unigene Clusters for DPM1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DPM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DPM1
- genomics-online: gRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- Applied Biological Materials CRISPR for DPM1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPM1
- GenScript: Design CRISPR guide RNA sequences for DPM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPM1
- Browse OriGene Inhibitory RNA Products For DPM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPM1
- genomics-online: shRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DPM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DPM1
- Applied Biological Materials Clones for DPM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||
| SP6: |
Expression for DPM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
-
Adrenal Gland (Endocrine System)
This gene is overexpressed in Bone (20.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPM1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DPM1 Gene:
DPM1SOURCE GeneReport for Unigene cluster for DPM1 Gene:
Hs.654951Evidence on tissue expression from TISSUES for DPM1 Gene
- Nervous system(4.8)
- Liver(4.4)
- Blood(2.8)
- Bone marrow(2.7)
- Spleen(2.2)
- Kidney(2.1)
- Muscle(2.1)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DPM1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- skull
Thorax:
- heart
- lung
Abdomen:
- liver
- spleen
Limb:
- ankle
- digit
- finger
- foot
- hand
- knee
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for DPM1
-
OriGene qPCR primer pairs and template standards for DPM1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DPM1 Gene
Orthologs for DPM1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DPM1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DPM1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DPM1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gm20716 34 |
|
OneToMany | |
| Dpm1 16 34 33 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Dpm1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DPM1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DPM1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DPM1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DPM1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dpm1 33 |
|
||
| Str.19938 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2812 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dpm1 34 33 |
|
OneToOne | |
| Dr.12934 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009866 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10166 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | dpm-1 34 33 |
|
OneToOne | |
| Y66H1A.2 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DPM1 36 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G20575 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0824400 33 |
|
||
| Os.7448 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.7423 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.617 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2945 34 |
|
OneToOne | |
| Cin.2411 33 |
|
||||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dpm1 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07965 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2411 33 |
|
- Species where no ortholog for DPM1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for DPM1 Gene
- ENSEMBL:
- Gene Tree for DPM1 (if available)
- TreeFam:
- Gene Tree for DPM1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DPM1: view image
Paralogs for DPM1 Gene
No data available for Paralogs for DPM1 Gene
Variants for DPM1 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11480415 | likely-benign, benign, Congenital disorder of glycosylation, not provided, Congenital disorder of glycosylation type 1E | 50,935,243(-) | /A/AA/AAA | genic_downstream_transcript_variant, intron_variant | |
| rs117175017 | uncertain-significance, likely-benign, Congenital disorder of glycosylation, not specified, Congenital disorder of glycosylation type 1E | 50,958,484(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs121908583 | pathogenic, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] | 50,948,650(-) | G/C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs146262101 | uncertain-significance, Congenital disorder of glycosylation | 50,935,136(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs16995639 | uncertain-significance, likely-benign, benign, Congenital disorder of glycosylation, not specified, Congenital disorder of glycosylation type 1E | 50,958,440(-) | C/G/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3646049 | CNV | gain | 21293372 |
| nsv834002 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
64.5% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DPM1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPM1 Gene
Disorders for DPM1 Gene
(6) MalaCards diseases for DPM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation, type ie |
|
|
| multiple personality disorder |
|
|
| facial neuralgia |
|
|
| dissociative disorder |
|
|
| myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 |
|
|
Search DPM1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DPM1_HUMAN- Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]: 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. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. {ECO:0000269 PubMed:10642597, ECO:0000269 PubMed:10642602, ECO:0000269 PubMed:15669674, ECO:0000269 PubMed:23856421}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DPM1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DPM1 Gene
Publications for DPM1 Gene
- A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells. (PMID: 9535917) Tomita S … Kinoshita T (The Journal of biological chemistry 1998) 2 3 4 22 58
- Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe. (PMID: 9223280) Colussi PA … Orlean P (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 58
- Congenital disorder of glycosylation (CDG) type Ie. A new patient. (PMID: 15669674) García-Silva MT … Briones P (Journal of inherited metabolic disease 2004) 3 4 22 58
- Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PMID: 10835346) Maeda Y … Kinoshita T (The EMBO journal 2000) 3 4 22 58
- Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (PMID: 10642602) Imbach T … Hennet T (The Journal of clinical investigation 2000) 3 4 22 58
Products for DPM1 Gene
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- Browse R&D Systems for biochemical assays
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- Browse Primary Antibodies
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- Custom Antibody Services
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for DPM1
- Search Origene for MassSpec and Protein Over-expression Lysates for DPM1
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPM1
- Browse OriGene Inhibitory RNA Products For DPM1
- OriGene qPCR primer pairs for DPM1
- OriGene qPCR primer pairs and template standards for DPM1
- OriGene CRISPR knockouts for DPM1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DPM1
- GenScript: Next-day shipping of latest version cDNA ORF clones for DPM1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for DPM1
- GenScript Custom Assay Services for DPM1
- GenScript Custom overexpressing Cell Line Services for DPM1
- GenScript: Design CRISPR guide RNA sequences for DPM1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for DPM1
- Sino Biological Human cDNA Clone for DPM1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for DPM1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for DPM1
- Novus Biologicals proteins and lysates for DPM1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for DPM1
- Abcam proteins for DPM1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for DPM1 (AFLGC-DPM1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for DPM1
- antibodies-online: Search results for 48 available DPM1 Antibodies ranked by validation data
- Compare Top DPM1 Antibodies
- antibodies-online: Search results for available DPM1 related products ranked by validation data
- antibodies-online: Search results for 9 available DPM1 Proteins ranked by validation data
- Compare Top DPM1 Proteins
- GeneTex DPM1 Antibody for DPM1
- Search GeneTex for Proteins for DPM1
- Santa Cruz Biotechnology (SCBT) Antibodies for DPM1
- Search Santa Cruz Biotechnology (SCBT) for DPM1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DPM1
- Horizon Cell Lines for DPM1
- genomics-online: cdna clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- orf clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- genomics-online: gRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- genomics-online: primer clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- genomics-online: shRNA clones - Search results for 129 available DPM1 gene related products
- Overview of 129 available DPM1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DPM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DPM1
- GeneCopoeia miRNA 3'UTR Target clone products for DPM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPM1
Sources for DPM1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt