dolichyl-phosphate mannosyltransferase subunit 3, regulatory

Summary
Gene Symbol
  • DPM3
Aliases
  • DPM synthase complex subunit
  • MGC125904
  • MGC125905
  • MGC34275
Organism
Homo sapiens (human)
External Links
NCBI Gene
54344
GGDB ID
HGNC
3007
mRNA
map
  • 1q22
Protein
OMIM
KEGG Gene ID
hsa:54344
PubChem
54344
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Congenital muscular dystrophy
  • Direct protein sequencing
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q86TM7
A0A140VJI4
Q9P2X0
  • Dolichol-phosphate mannose synthase subunit 3
  • Dolichyl-phosphate beta-D-mannosyltransferase subunit 3
  • Mannose-P-dolichol synthase subunit 3
  • Prostin-1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000179085

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg204
Gene Symbol
  • DPM3
Orthologous Gene
Displaying 1 entry
Species Protein mRNA
Mus musculus NP_081043 NM_026767
KEGG BRITE Database
Orthology
K09659
Name
dolichol-phosphate mannosyltransferase subunit 3
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 49 in total
DO ID Disease Name Source
DOID:0050557 congenital muscular dystrophy
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050700 cardiomyopathy
DOID:0060255 rippling muscle disease 2
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0110273 autosomal dominant limb-girdle muscular dystrophy
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001270 Motor delay
HP:0001315 Reduced tendon reflexes
HP:0001324 Muscle weakness
HP:0001644 Dilated cardiomyopathy
HP:0001763 Pes planus
HP:0002121 Generalized non-motor (absence) seizure
HP:0002187 Intellectual disability, profound
HP:0002317 Unsteady gait
HP:0002401 Stroke-like episode
Displaying all 3 entries
Disease ID Disease Name
OMIM:618992
  • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
OMIM:612937
  • DPM3-congenital disorder of glycosylation
ORPHA:263494
  • DPM3-congenital disorder of glycosylation
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006110
Gene Name
dolichyl-phosphate mannosyltransferase polypeptide 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024