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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]
DPM1 (Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic) is a Protein Coding gene. Diseases associated with DPM1 include Congenital Disorder Of Glycosylation, Type Ie and Acquired Polycythemia. Among its related pathways are Transport to the Golgi and subsequent modification 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. An important paralog of this gene is ALG5.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 9724629 |
GO:0005789 | endoplasmic reticulum membrane | IDA,TAS | -- |
GO:0016020 | membrane | IDA | 9535917 |
GO:0033185 | dolichol-phosphate-mannose synthase complex | IDA | 9724629 |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006506 | GPI anchor biosynthetic process | IBA,IDA | 9535917 |
GO:0018279 | protein N-linked glycosylation via asparagine | TAS | -- |
GO:0019348 | dolichol metabolic process | IEA,IDA | 9535917 |
GO:0019673 | GDP-mannose metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Dolichol-20 |
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2067-66-5 |
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Dolichyl beta-D-mannosyl phosphate |
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Dolichyl phosphate D-mannose |
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908211-94-9 |
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Guanosine diphosphate mannose |
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3123-67-9 |
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ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DPM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DPM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DPM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gm20716 31 |
|
OneToMany | |
Dpm1 30 17 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Dpm1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DPM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DPM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DPM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DPM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dpm1 30 |
|
||
Str.19938 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.2812 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dpm1 30 31 |
|
OneToOne | |
Dr.12934 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009866 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10166 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | dpm-1 30 31 |
|
OneToOne | |
Y66H1A.2 32 |
|
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DPM1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G20575 30 |
|
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Rice (Oryza sativa) |
Liliopsida | Os03g0824400 30 |
|
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Os.7448 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.7423 30 |
|
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Wheat (Triticum aestivum) |
Liliopsida | Ta.617 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2945 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dpm1 30 |
|
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU07965 30 |
|
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2411 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639400 | Uncertain Significance: Congenital disorder of glycosylation type 1E | 50,955,274(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
642386 | Uncertain Significance: Congenital disorder of glycosylation type 1E | 50,955,279(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
642739 | Uncertain Significance: Congenital disorder of glycosylation type 1E | 50,958,499(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
644187 | Uncertain Significance: Congenital disorder of glycosylation type 1E | 50,958,412(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
650050 | Uncertain Significance: Congenital disorder of glycosylation type 1E | 50,935,152(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3646049 | CNV | gain | 21293372 |
nsv834002 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type ie |
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acquired polycythemia |
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multiple personality disorder |
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recurrent respiratory papillomatosis |
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qualitative platelet defect |
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