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PGM5 phosphoglucomutase 5 [ Homo sapiens (human) ]

Gene ID: 5239, updated on 4-Jun-2020

Summary

Official Symbol
PGM5provided by HGNC
Official Full Name
phosphoglucomutase 5provided by HGNC
Primary source
HGNC:HGNC:8908
See related
Ensembl:ENSG00000154330 MIM:600981
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

Genomic context

See PGM5 in Genome Data Viewer
Location:
9q21.11
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (68356584..68531061)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (70971815..71145977)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929800 Neighboring gene uncharacterized LOC102723624 Neighboring gene PGM5 antisense RNA 1 Neighboring gene uncharacterized LOC105376070 Neighboring gene TMEM252 divergent transcript Neighboring gene long intergenic non-protein coding RNA 1506 Neighboring gene transmembrane protein 252

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
NOT phosphoglucomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT phosphoglucomutase activity IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-substrate junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
costamere IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dystrophin-associated glycoprotein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
spot adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphoglucomutase-like protein 5
Names
PGM-RP
aciculin
phosphoglucomutase-related protein

NCBI Reference Sequences (RefSeq)

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)

  1. NM_021965.4NP_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
    Q15124
    Related
    ENSP00000379678.1, ENST00000396396.6
    Conserved Domains (2) summary
    PLN02307
    Location:6567
    PLN02307; phosphoglucomutase
    cl03757
    Location:10567
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    68356584..68531061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518783.3XP_011517085.1  phosphoglucomutase-like protein 5 isoform X2

    Conserved Domains (1) summary
    cl03757
    Location:10347
    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 ...
  2. XM_024447573.1XP_024303341.1  phosphoglucomutase-like protein 5 isoform X1

    Conserved Domains (1) summary
    cl03757
    Location:10348
    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 ...
  3. XM_011518782.3XP_011517084.1  phosphoglucomutase-like protein 5 isoform X1

    Related
    ENSP00000379674.1, ENST00000396392.5
    Conserved Domains (1) summary
    cl03757
    Location:10348
    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 ...
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