PGM3 phosphoglucomutase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGM3provided by HGNC
Official Full Name: phosphoglucomutase 3provided by HGNC
Primary source: HGNC:HGNC:8907
See related: Ensembl:ENSG00000013375 MIM:172100; AllianceGenome:HGNC:8907
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: AGM1; PAGM; IMD23; PGM 3
Summary: This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in prostate (RPKM 14.7), thyroid (RPKM 8.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (83148705..83193900, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (84373968..84417223, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (83860447..83903619, complement)

Chromosome 6 - NC_000006.12 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?

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
Title: Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.
Title: PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.
Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.
Title: Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
Title: Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
Deficiency of phosphoglucomutase 3 (PGM3) is an autosomal recessive disorder of N- and O-glycosylation.
Title: Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
our findings demonstrate that defective glycosylation in PGM3-deficient patients results in reduced expression of unglycosylated gp130 protein and consequently, impaired gp130-dependent STAT3 phosphorylation.
Title: Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.
Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Title: A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia
Title: A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile.
Title: Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation.
Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
Title: Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Immunodeficiency 23 MedGen: C4014371 OMIM: 615816 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A003M25 (e-PCR)
- UniSTS:55400

PGM3_8540 (e-PCR)
- UniSTS:467828

AB056792 (e-PCR)
- UniSTS:479928

RH83559 (e-PCR)
- UniSTS:209613

STS-H71321 (e-PCR)
- UniSTS:9468

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphoacetylglucosamine mutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphoacetylglucosamine mutase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphoacetylglucosamine mutase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphoacetylglucosamine mutase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP-N-acetylglucosamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in UDP-N-acetylglucosamine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in UDP-N-acetylglucosamine biosynthetic process	TAS Traceable Author Statement more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glucosamine metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in hemopoiesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: phosphoacetylglucosamine mutase

Names: N-acetylglucosamine-phosphate mutase 1; acetylglucosamine phosphomutase

NP_001186846.1

EC 5.4.2.3

NP_001186847.1

EC 5.4.2.3

NP_001186848.1

EC 5.4.2.3

NP_001354215.1

EC 5.4.2.3

NP_001354216.1

EC 5.4.2.3

NP_056414.1

EC 5.4.2.3

XP_016866424.1

EC 5.4.2.3

XP_016866426.1

EC 5.4.2.3

XP_047274832.1

EC 5.4.2.3

XP_047274833.1

EC 5.4.2.3

XP_054211583.1

EC 5.4.2.3

XP_054211584.1

EC 5.4.2.3

XP_054211585.1

EC 5.4.2.3

XP_054211586.1

EC 5.4.2.3

XP_054211587.1

EC 5.4.2.3

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_034146.2 RefSeqGene

Range

5636..34028

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1312

mRNA and Protein(s)

NM_001199917.2 → NP_001186846.1 phosphoacetylglucosamine mutase isoform 1

See identical proteins and their annotated locations for NP_001186846.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 encode the same isoform.

Source sequence(s)

AF180371, AK301867, AL121716

Consensus CDS

CCDS56436.1

UniProtKB/TrEMBL

B3KN28

Related

ENSP00000425809.1, ENST00000506587.5

Conserved Domains (1) summary

cd03086
Location:50 → 555

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
NM_001199918.2 → NP_001186847.1 phosphoacetylglucosamine mutase isoform 3

See identical proteins and their annotated locations for NP_001186847.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (3) with distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AK001365, AL121716, DB004046

Consensus CDS

CCDS75487.1

UniProtKB/TrEMBL

A0A494C1E2, J3KN95

Related

ENSP00000283977.5, ENST00000283977.9

Conserved Domains (1) summary

cd03086
Location:1 → 432

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
NM_001199919.2 → NP_001186848.1 phosphoacetylglucosamine mutase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (4) with distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AK225363, AL121716, DB004046

Consensus CDS

CCDS56435.1

UniProtKB/TrEMBL

B3KN28

Related

ENSP00000421565.1, ENST00000512866.5

Conserved Domains (2) summary

cd03086
Location:22 → 527

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

PLN02895
Location:1 → 538

PLN02895; phosphoacetylglucosamine mutase
NM_001367286.1 → NP_001354215.1 phosphoacetylglucosamine mutase isoform 5

Status: REVIEWED

Source sequence(s)

AL049699, AL121716

Consensus CDS

CCDS93954.1

UniProtKB/TrEMBL

A0A494C0G1, B3KN28

Related

ENSP00000498516.1, ENST00000650642.1

Conserved Domains (1) summary

cd03086
Location:22 → 486

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
NM_001367287.1 → NP_001354216.1 phosphoacetylglucosamine mutase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1).

Source sequence(s)

AL049699, AL121716

Consensus CDS

CCDS56436.1

UniProtKB/TrEMBL

B3KN28

Related

ENSP00000424865.2, ENST00000508748.6

Conserved Domains (1) summary

cd03086
Location:50 → 555

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
NM_015599.3 → NP_056414.1 phosphoacetylglucosamine mutase isoform 2

See identical proteins and their annotated locations for NP_056414.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AF180371, AL121716, DB004046

Consensus CDS

CCDS4997.1

UniProtKB/Swiss-Prot

B2RB65, B4DX94, D6RF12, E1P547, E9PF86, O95394, Q5JWR4, Q96J46, Q9H8G5, Q9NS94, Q9NTT6, Q9UFV5, Q9UIY2

UniProtKB/TrEMBL

B3KN28

Related

ENSP00000424874.1, ENST00000513973.6

Conserved Domains (2) summary

cd03086
Location:22 → 527

PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

PLN02895
Location:1 → 538

PLN02895; phosphoacetylglucosamine mutase