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PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L [ Homo sapiens (human) ]

Gene ID: 151742, updated on 5-Sep-2020

Summary

Official Symbol
PPM1Lprovided by HGNC
Official Full Name
protein phosphatase, Mg2+/Mn2+ dependent 1Lprovided by HGNC
Primary source
HGNC:HGNC:16381
See related
Ensembl:ENSG00000163590 MIM:611931
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
PP2CE; PPM1-LIKE; PP2C-epsilon
Summary
The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in brain (RPKM 9.7), thyroid (RPKM 6.9) and 24 other tissues See more
Orthologs

Genomic context

See PPM1L in Genome Data Viewer
Location:
3q25.33-q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (160755532..161078902)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160473996..160788817)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L6 pseudogene 8 Neighboring gene ADP ribosylation factor like GTPase 14 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) Neighboring gene uncharacterized LOC105374186

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.
GeneReviews: Not available
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC132545, MGC132547

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium-dependent protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
transmembrane receptor protein serine/threonine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein phosphatase 1L
Names
PP2C epsilon
NP_001304840.1
NP_001304841.1
NP_640338.2
XP_011510742.1

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_001317911.2NP_001304840.1  protein phosphatase 1L isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC021649, AC117413, AK055115, AW274846, BC104885
    Consensus CDS
    CCDS82868.1
    UniProtKB/Swiss-Prot
    Q5SGD2
    Related
    ENSP00000295839.9, ENST00000295839.9
    Conserved Domains (1) summary
    cd00143
    Location:8224
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  2. NM_001317912.2NP_001304841.1  protein phosphatase 1L isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate exons in place of the first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC021649, AC117413, AK055115, AW274846
    Consensus CDS
    CCDS82869.1
    UniProtKB/Swiss-Prot
    Q5SGD2
    Related
    ENSP00000420746.1, ENST00000464260.5
    Conserved Domains (1) summary
    cd00143
    Location:12172
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  3. NM_139245.4NP_640338.2  protein phosphatase 1L isoform 1

    See identical proteins and their annotated locations for NP_640338.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC021649, AW274846, AY337264
    Consensus CDS
    CCDS33886.1
    UniProtKB/Swiss-Prot
    Q5SGD2
    Related
    ENSP00000417659.1, ENST00000498165.6
    Conserved Domains (1) summary
    cd00143
    Location:93351
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

RNA

  1. NR_134243.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate exons in place of the first exon and contains an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC021649, AW274846, BC090872

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    160755532..161078902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512440.3XP_011510742.1  protein phosphatase 1L isoform X1

    Conserved Domains (1) summary
    cl00120
    Location:93192
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
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