PMM1 phosphomannomutase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMM1provided by HGNC
Official Full Name: phosphomannomutase 1provided by HGNC
Primary source: HGNC:HGNC:9114
See related: Ensembl:ENSG00000100417 MIM:601786; AllianceGenome:HGNC:9114
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: PMM 1; Sec53; PMMH-22
Summary: Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 25.6), ovary (RPKM 25.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41576900..41589840, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42055771..42068712, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41972904..41985844, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The 1.93 A resolution structure of PMM1 complexed with inosine monophosphate (IMP) was determined. The structure reveals IMP bound at the substrate recruitment site, thus inhibiting the mutase activity while simultaneously activating a phosphatase activity (IMP Kact = 1.5 muM) resulting from the hydrolysis of the phospho-enzyme.
Title: Structural Basis of the Molecular Switch between Phosphatase and Mutase Functions of Human Phosphomannomutase 1 under Ischemic Conditions.
a triple mutant of phospomannomutase1 that retains mutase and phosphatase activity, but is unable to bind inosine monophosphate, was characterized.
Title: A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain
Title: Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
The genes GUS and PMM1 are recommended for normalization purposes in gene expression studies of liver tissue from patients with chronic hepatitis.
Title: GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis.
human alpha-phosphomannomutase 1 crystallographic structure reveals the structural basis of congenital disorder of glycosylation type 1a
Title: The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.
analysis of mental development in a patient with phosphomannomutase deficiency who is compound heterozygous for T237R/C241S mutations [case report]
Title: Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).
Mutations in phosphomannomutase is associated with ophthalmic manifestations of congenital disorder of glycosylation type 1a
Title: Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of phosphomannomutase 1 (PMM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-U86070 (e-PCR)
- UniSTS:62480

RH47292 (e-PCR)
- UniSTS:47634

A005T18 (e-PCR)
- UniSTS:56854

WI-19569 (e-PCR)
- UniSTS:75819

STS-F10883 (e-PCR)
- UniSTS:73926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphomannomutase activity	EXP Inferred from Experiment more info	PubMed
enables phosphomannomutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphomannomutase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose biosynthetic process	TAS Traceable Author Statement more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in mannose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in mannose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: phosphomannomutase 1

Names: brain glucose-1,6-bisphosphatase

NP_002667.2

EC 5.4.2.8

XP_005261695.1

EC 5.4.2.8

XP_011528531.1

EC 5.4.2.8

XP_011528532.1

EC 5.4.2.8

XP_011528533.1

EC 5.4.2.8

XP_011528534.1

EC 5.4.2.8

XP_047297367.1

EC 5.4.2.8

XP_054181677.1

EC 5.4.2.8

XP_054181678.1

EC 5.4.2.8

XP_054181679.1

EC 5.4.2.8

XP_054181680.1

EC 5.4.2.8

XP_054181681.1

EC 5.4.2.8

XP_054181682.1

EC 5.4.2.8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_002676.3 → NP_002667.2 phosphomannomutase 1

See identical proteins and their annotated locations for NP_002667.2

Status: REVIEWED

Source sequence(s)

BC010855, BC016818

Consensus CDS

CCDS14020.1

UniProtKB/Swiss-Prot

A8K003, Q92586, Q92871

Related

ENSP00000216259.7, ENST00000216259.8

Conserved Domains (1) summary

cd02585
Location:15 → 253

HAD_PMM; phosphomannomutase, similar to human PMM1 and PMM2, Saccharomyces Sec53p, and Arabidopsis thaliana PMM

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

41576900..41589840 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011530231.4 → XP_011528533.1 phosphomannomutase 1 isoform X3

Conserved Domains (1) summary

cl21460
Location:56 → 186

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_047441411.1 → XP_047297367.1 phosphomannomutase 1 isoform X5
XM_005261638.5 → XP_005261695.1 phosphomannomutase 1 isoform X4

See identical proteins and their annotated locations for XP_005261695.1

Conserved Domains (1) summary

cl21460
Location:29 → 159

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_011530230.3 → XP_011528532.1 phosphomannomutase 1 isoform X2

Conserved Domains (2) summary

TIGR01484
Location:32 → 243

HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB

pfam03332
Location:41 → 261

PMM; Eukaryotic phosphomannomutase
XM_011530229.3 → XP_011528531.1 phosphomannomutase 1 isoform X1

Conserved Domains (1) summary

cl21460
Location:169 → 299

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_011530232.2 → XP_011528534.1 phosphomannomutase 1 isoform X4

See identical proteins and their annotated locations for XP_011528534.1

Conserved Domains (1) summary

cl21460
Location:29 → 159

HAD_like; Haloacid Dehalogenase-like Hydrolases