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    PTER phosphotriesterase related [ Homo sapiens (human) ]

    Gene ID: 9317, updated on 21-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 11.0), brain (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTER in Genome Data Viewer
    Location:
    10p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (16437010..16519020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (16455439..16536409)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Phosphotriesterase-related protein as a novel prognostic predictor for hepatocellular carcinoma patients. Feng X, et al. Chin Clin Oncol, 2023 Aug. PMID 37699602
    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. 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
    4. 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
    5. PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity. Wei W, et al. Nature, 2024 Sep. PMID 39112712, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity.
      Title: PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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)

    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 N-acetyltaurine hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    involved_in regulation of appetite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in taurine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    N-acetyltaurine hydrolase; 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  N-acetyltaurine hydrolase 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  N-acetyltaurine hydrolase 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  N-acetyltaurine hydrolase 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  N-acetyltaurine hydrolase 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  N-acetyltaurine hydrolase 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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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