DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPM1provided by HGNC
Official Full Name: dolichyl-phosphate mannosyltransferase subunit 1, catalyticprovided by HGNC
Primary source: HGNC:HGNC:3005
See related: Ensembl:ENSG00000000419 MIM:603503; AllianceGenome:HGNC:3005
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: MPDS; CDGIE
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. 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]
Expression: Ubiquitous expression in adrenal (RPKM 24.6), thyroid (RPKM 23.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (50934855..50958564, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (52705454..52729167, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (49551392..49575101, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.
Title: DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation type 1E MedGen: C1837396 OMIM: 608799 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S196 (e-PCR), detects polymorphism
- UniSTS:80427

G60423 (e-PCR)
- UniSTS:137529

RH45780 (e-PCR)
- UniSTS:24647

SHGC-32757 (e-PCR)
- UniSTS:45704

D20S196 (e-PCR), detects polymorphism
- UniSTS:57739

G19654 (e-PCR)
- UniSTS:41650

A001U10 (e-PCR)
- UniSTS:41651

D20S869 (e-PCR), detects polymorphism
- UniSTS:72669

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
enables alcohol binding	IEA Inferred from Electronic Annotation more info
enables dolichyl-phosphate beta-D-mannosyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables dolichyl-phosphate beta-D-mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dolichyl-phosphate beta-D-mannosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dolichol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dolichol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dolichol phosphate mannose biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in dolichol-linked oligosaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked mannosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein mannosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxygen levels	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of dolichol-phosphate-mannose synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of dolichol-phosphate-mannose synthase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: dolichol-phosphate mannosyltransferase subunit 1

Names: DPM synthase complex, catalytic subunit; DPM synthase subunit 1; MPD synthase subunit 1; dolichol monophosphate mannose synthase; dolichol-phosphate mannose synthase subunit 1; dolichyl-phosphate beta-D-mannosyltransferase subunit 1; dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit; mannose-P-dolichol synthase subunit 1

NP_001303963.1

EC 2.4.1.83

NP_001303964.1

EC 2.4.1.83

NP_001303965.1

EC 2.4.1.83

NP_003850.1

EC 2.4.1.83

XP_047296533.1

EC 2.4.1.83

XP_054180171.1

EC 2.4.1.83

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

NG_008923.1 RefSeqGene

Range

4992..28654

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001317034.1 → NP_001303963.1 dolichol-phosphate mannosyltransferase subunit 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL034553, BC007073, CA865473, DR156925

Consensus CDS

CCDS93059.1

UniProtKB/TrEMBL

H0Y368

Related

ENSP00000360640.5, ENST00000371584.9

Conserved Domains (3) summary

cd06442
Location:29 → 291

DPM1_like; DPM1_like represents putative enzymes similar to eukaryotic DPM1

PLN02726
Location:23 → 295

PLN02726; dolichyl-phosphate beta-D-mannosyltransferase

pfam13900
Location:175 → 206

GVQW; Putative domain of unknown function
NM_001317035.1 → NP_001303964.1 dolichol-phosphate mannosyltransferase subunit 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL034553, BC007073, BM922866, CA865473

Consensus CDS

CCDS82628.1

UniProtKB/TrEMBL

Q5QPK2

Related

ENSP00000360638.4, ENST00000371582.8

Conserved Domains (2) summary

cd06442
Location:29 → 283

DPM1_like; DPM1_like represents putative enzymes similar to eukaryotic DPM1

PLN02726
Location:23 → 287

PLN02726; dolichyl-phosphate beta-D-mannosyltransferase
NM_001317036.1 → NP_001303965.1 dolichol-phosphate mannosyltransferase subunit 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AL034553, BC007073, BQ441542, CA865473

UniProtKB/Swiss-Prot

O60762

Conserved Domains (2) summary

cd06442
Location:29 → 233

DPM1_like; DPM1_like represents putative enzymes similar to eukaryotic DPM1

PLN02726
Location:23 → 237

PLN02726; dolichyl-phosphate beta-D-mannosyltransferase
NM_003859.3 → NP_003850.1 dolichol-phosphate mannosyltransferase subunit 1 isoform 3

See identical proteins and their annotated locations for NP_003850.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

BC016322, D86198

Consensus CDS

CCDS13434.1

UniProtKB/Swiss-Prot

O15157, O60762, Q6IB78, Q96HK0

UniProtKB/TrEMBL

A0A0S2Z4Y5, Q5QPJ9

Related

ENSP00000360644.5, ENST00000371588.10

Conserved Domains (1) summary

PLN02726
Location:23 → 260

PLN02726; dolichyl-phosphate beta-D-mannosyltransferase

RNA

NR_133648.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate internal exon, and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL034553, BC008427

Related

ENST00000466152.5