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PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase [ Homo sapiens (human) ]

Gene ID: 192111, updated on 7-Oct-2018

Summary

Official Symbol
PGAM5provided by HGNC
Official Full Name
PGAM family member 5, mitochondrial serine/threonine protein phosphataseprovided by HGNC
Primary source
HGNC:HGNC:28763
See related
Ensembl:ENSG00000247077 MIM:614939; Vega:OTTHUMG00000168021
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
BXLBV68
Expression
Ubiquitous expression in esophagus (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See PGAM5 in Genome Data Viewer
Location:
12q24.33
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (132710807..132722737)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133287393..133299323)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon, catalytic subunit Neighboring gene peroxisomal membrane protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 379 Neighboring gene ankyrin repeat and LEM domain containing 2 Neighboring gene TPD52 like 2 pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
macroautophagy TAS
Traceable Author Statement
more info
 
necroptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
serine/threonine-protein phosphatase PGAM5, mitochondrial
Names
Bcl-XL-binding protein v68
PGAM family member 5, serine/threonine protein phosphatase, mitochondrial
phosphoglycerate mutase family member 5
NP_001164014.1
NP_001164015.1
NP_612642.2

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_001170543.1NP_001164014.1  serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001164014.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC135586, D25830, EU249757
    Consensus CDS
    CCDS53845.1
    UniProtKB/Swiss-Prot
    Q96HS1
    Related
    ENSP00000438465.1, OTTHUMP00000237614, ENST00000498926.6, OTTHUMT00000397562
    Conserved Domains (1) summary
    cd07067
    Location:99272
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  2. NM_001170544.1NP_001164015.1  serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC135586, CA307621, D25830, DR155760
    Conserved Domains (1) summary
    cd07067
    Location:99271
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  3. NM_138575.3NP_612642.2  serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_612642.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and lacks a portion of the 3' coding region compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC135586, BC008196
    Consensus CDS
    CCDS9280.1
    UniProtKB/Swiss-Prot
    Q96HS1
    Related
    ENSP00000321503.2, OTTHUMP00000237613, ENST00000317555.6, OTTHUMT00000397561
    Conserved Domains (1) summary
    cd07067
    Location:99239
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    132710807..132722737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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