PGM5 phosphoglucomutase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGM5provided by HGNC
Official Full Name: phosphoglucomutase 5provided by HGNC
Primary source: HGNC:HGNC:8908
See related: Ensembl:ENSG00000154330 MIM:600981; AllianceGenome:HGNC:8908
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PGMRP
Summary: Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in prostate (RPKM 50.4), esophagus (RPKM 35.1) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (68356611..68531061)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (80530217..80704652)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (70971527..71145977)

Chromosome 9 - NC_000009.12 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
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?

Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
Title: Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.

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

EBI GWAS Catalog

Description
A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

STS-L40933 (e-PCR)
- UniSTS:83077

D9S234 (e-PCR)
- UniSTS:44488

D9S1862 (e-PCR), detects polymorphism
- UniSTS:28109

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
NOT enables phosphoglucomutase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables phosphoglucomutase activity	IDA Inferred from Direct Assay more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in striated muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-substrate junction	IBA Inferred from Biological aspect of Ancestor more info
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
part_of dystrophin-associated glycoprotein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in spot adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphoglucomutase-like protein 5

Names: PGM-RP; aciculin; phosphoglucomutase-related protein

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.

mRNA and Protein(s)

NM_021965.4 → NP_068800.2 phosphoglucomutase-like protein 5

See identical proteins and their annotated locations for NP_068800.2

Status: VALIDATED

Source sequence(s)

AA709405, AI078570, AI374906, AL137698, AL353608, AL710966, BC033073

Consensus CDS

CCDS6622.2

UniProtKB/Swiss-Prot

B1AM46, B4DLQ6, Q15124, Q5VYV3, Q8N527, Q9UDH4

Related

ENSP00000379678.1, ENST00000396396.6

Conserved Domains (2) summary

PLN02307
Location:6 → 567

PLN02307; phosphoglucomutase

cl03757
Location:10 → 567

phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

68356611..68531061

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423473.1 → XP_047279429.1 phosphoglucomutase-like protein 5 isoform X3
XM_011518783.4 → XP_011517085.1 phosphoglucomutase-like protein 5 isoform X2

Conserved Domains (1) summary

cl03757
Location:10 → 347

phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...
XM_024447573.2 → XP_024303341.1 phosphoglucomutase-like protein 5 isoform X1

Related

ENSP00000379674.1, ENST00000396392.5

Conserved Domains (1) summary

cl03757
Location:10 → 348

phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...
XM_011518782.4 → XP_011517084.1 phosphoglucomutase-like protein 5 isoform X1

Conserved Domains (1) summary

cl03757
Location:10 → 348

phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...