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DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory [ Homo sapiens (human) ]

Gene ID: 54344, updated on 26-Nov-2021

Summary

Official Symbol
DPM3provided by HGNC
Official Full Name
dolichyl-phosphate mannosyltransferase subunit 3, regulatoryprovided by HGNC
Primary source
HGNC:HGNC:3007
See related
Ensembl:ENSG00000179085 MIM:605951
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDG1O; MDDGB15; MDDGC15
Summary
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. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 20.5), colon (RPKM 20.2) and 25 other tissues See more
Orthologs
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Genomic context

See DPM3 in Genome Data Viewer
Location:
1q22
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155139891..155140573, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155112367..155113007, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ephrin A1 Neighboring gene solute carrier family 50 member 1 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 18 Neighboring gene keratinocyte associated protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Congenital disorder of glycosylation type 1O Compare labs
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15
MedGen: C5436552 OMIM: 618992 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34275, MGC125904, MGC125905

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
dolichol-phosphate mannosyltransferase subunit 3
Names
DPM synthase complex subunit 3
DPM synthase subunit 3
MPD synthase subunit 3
dolichol-phosphate mannose synthase subunit 3
dolichyl-phosphate beta-D-mannosyltransferase subunit 3
dolichyl-phosphate mannosyltransferase polypeptide 3
mannose-P-dolichol synthase subunit 3
prostin 1
testicular tissue protein Li 58
NP_061846.2
NP_714963.1
XP_016856987.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012871.1 RefSeqGene

    Range
    4990..5630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018973.4NP_061846.2  dolichol-phosphate mannosyltransferase subunit 3 isoform 1

    See identical proteins and their annotated locations for NP_061846.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL691442
    Consensus CDS
    CCDS1094.1
    UniProtKB/Swiss-Prot
    Q9P2X0
    UniProtKB/TrEMBL
    A0A140VJI4
    Related
    ENSP00000357384.1, ENST00000368399.1
    Conserved Domains (1) summary
    pfam08285
    Location:37121
    DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)
  2. NM_153741.2NP_714963.1  dolichol-phosphate mannosyltransferase subunit 3 isoform 2

    See identical proteins and their annotated locations for NP_714963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and 5' coding region, compared to variant 1. This results in translation initiation from a downstream ATG and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL691442
    Consensus CDS
    CCDS1095.1
    UniProtKB/Swiss-Prot
    Q9P2X0
    UniProtKB/TrEMBL
    Q86TM7
    Related
    ENSP00000357385.5, ENST00000368400.5
    Conserved Domains (1) summary
    pfam08285
    Location:791
    DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    155139891..155140573 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001498.1XP_016856987.1  dolichol-phosphate mannosyltransferase subunit 3 isoform X1

    UniProtKB/Swiss-Prot
    Q9P2X0
    Related
    ENSP00000344338.3, ENST00000341298.3
    Conserved Domains (1) summary
    pfam08285
    Location:791
    DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)
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