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PTER phosphotriesterase related [ Homo sapiens (human) ]

Gene ID: 9317, updated on 5-Mar-2024

Summary

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Official Symbol
PTERprovided by HGNC
Official Full Name
phosphotriesterase relatedprovided by HGNC
Primary source
HGNC:HGNC:9590
See related
Ensembl:ENSG00000165983 MIM:604446; AllianceGenome:HGNC:9590
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
HPHRP; RPR-1
Summary
Predicted to enable hydrolase activity, acting on ester bonds and zinc ion binding activity. Involved in epithelial cell differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 11.0), brain (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10p13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (16437010..16519020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (16455439..16536409)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (16479009..16555744)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2654 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:16390899-16391421 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3098 Neighboring gene MPRA-validated peak880 silencer Neighboring gene RNA, U2 small nuclear 18, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:16561428-16561928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:16561929-16562429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2178 Neighboring gene complement C1q like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3100 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:16639108-16640307 Neighboring gene Ras suppressor protein 1 Neighboring gene uncharacterized LOC124902385 Neighboring gene uncharacterized LOC124902384

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Phosphotriesterase-related protein sensed albuminuria and conferred renal tubular cell activation in membranous nephropathy. Cheng CW, et al. J Biomed Sci, 2014 Apr 22. PMID 24750591, Free PMC Article
  2. Assignment1 of phosphotriesterase-related gene (PTER) to human chromosome band 10p12 by in situ hybridization. Alimova-Kost MV, et al. Cytogenet Cell Genet, 1998. PMID 9925913
  3. Molecular cloning and expression pattern of rpr-1, a resiniferatoxin-binding, phosphotriesterase-related protein, expressed in rat kidney tubules. Davies JA, et al. FEBS Lett, 1997 Jun 30. PMID 9237666
  4. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Meyre D, et al. Nat Genet, 2009 Feb. PMID 19151714
  5. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. Kim HY, et al. BMB Rep, 2010 Aug. PMID 20797317

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphotriesterase-related protein as a novel prognostic predictor for hepatocellular carcinoma patients.
    Title: Phosphotriesterase-related protein as a novel prognostic predictor for hepatocellular carcinoma patients.
  2. Our findings reveal that PTER may sense albuminuria in the progression of Membranous nephropathy induce tubular cell activation and lead to end-stage renal disease .
    Title: Phosphotriesterase-related protein sensed albuminuria and conferred renal tubular cell activation in membranous nephropathy.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.
  5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
  6. In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene).
    Title: Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
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
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity, acting on ester bonds IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
phosphotriesterase-related protein
Names
parathion hydrolase-related protein
resiniferatoxin-binding, phosphotriesterase-related

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)

  1. NM_001001484.3 → NP_001001484.1  phosphotriesterase-related protein isoform 1

    See identical proteins and their annotated locations for NP_001001484.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2 and 3 encode the same isoform.
    Source sequence(s)
    AL360230, BC015092, BC050411
    Consensus CDS
    CCDS7111.1
    UniProtKB/Swiss-Prot
    B0YJ77, B3KTF5, D3DRU0, Q96BW5, Q9BY46
    Related
    ENSP00000367239.1, ENST00000378000.5
    Conserved Domains (1) summary
    cl00281
    Location:15 → 347
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

  2. NM_001261836.2 → NP_001248765.1  phosphotriesterase-related protein isoform 1

    See identical proteins and their annotated locations for NP_001248765.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AK314910, AL360230
    Consensus CDS
    CCDS7111.1
    UniProtKB/Swiss-Prot
    B0YJ77, B3KTF5, D3DRU0, Q96BW5, Q9BY46
    Related
    ENSP00000439485.1, ENST00000535784.7
    Conserved Domains (1) summary
    cl00281
    Location:15 → 347
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

  3. NM_001261837.2 → NP_001248766.1  phosphotriesterase-related protein isoform 2

    See identical proteins and their annotated locations for NP_001248766.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK095486, AL360230
    Consensus CDS
    CCDS58070.1
    UniProtKB/Swiss-Prot
    Q96BW5
    Conserved Domains (1) summary
    cl00281
    Location:15 → 300
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

  4. NM_001261838.2 → NP_001248767.1  phosphotriesterase-related protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL360230, BC015092, BU172463
    Consensus CDS
    CCDS73070.1
    UniProtKB/TrEMBL
    A0A0A0MSI3
    Related
    ENSP00000389535.3, ENST00000423462.6
    Conserved Domains (1) summary
    cl00281
    Location:1 → 198
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

  5. NM_030664.5 → NP_109589.2  phosphotriesterase-related protein isoform 1

    See identical proteins and their annotated locations for NP_109589.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AL360230, BC015092
    Consensus CDS
    CCDS7111.1
    UniProtKB/Swiss-Prot
    B0YJ77, B3KTF5, D3DRU0, Q96BW5, Q9BY46
    Conserved Domains (1) summary
    cl00281
    Location:15 → 347
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    16437010..16519020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426006.1 → XP_047281962.1  phosphotriesterase-related protein isoform X1

  2. XM_047426007.1 → XP_047281963.1  phosphotriesterase-related protein isoform X3

  3. XM_017016929.3 → XP_016872418.1  phosphotriesterase-related protein isoform X4

    UniProtKB/Swiss-Prot
    Q96BW5
    Related
    ENSP00000298942.4, ENST00000298942.4
    Conserved Domains (1) summary
    cl00281
    Location:15 → 300
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

  4. XM_017016927.3 → XP_016872416.1  phosphotriesterase-related protein isoform X2

RNA

  1. XR_007062017.1 RNA Sequence

  2. XR_007062018.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    16455439..16536409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367169.1 → XP_054223144.1  phosphotriesterase-related protein isoform X1

  2. XM_054367171.1 → XP_054223146.1  phosphotriesterase-related protein isoform X3

  3. XM_054367172.1 → XP_054223147.1  phosphotriesterase-related protein isoform X4

  4. XM_054367170.1 → XP_054223145.1  phosphotriesterase-related protein isoform X2

RNA

  1. XR_008488310.1 RNA Sequence

  2. XR_008488311.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96BW5.1 GenPept UniProtKB/Swiss-Prot:Q96BW5

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