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    PTER phosphotriesterase related [ Homo sapiens (human) ]

    Gene ID: 9317, updated on 14-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 11.0), brain (RPKM 10.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001001484.3NP_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:15347
      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_001261836.2NP_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:15347
      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_001261837.2NP_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:15300
      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_001261838.2NP_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:1198
      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_030664.5NP_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:15347
      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_047426006.1XP_047281962.1  phosphotriesterase-related protein isoform X1

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

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

      UniProtKB/Swiss-Prot
      Q96BW5
      Related
      ENSP00000298942.4, ENST00000298942.4
      Conserved Domains (1) summary
      cl00281
      Location:15300
      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_017016927.3XP_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_054367169.1XP_054223144.1  phosphotriesterase-related protein isoform X1

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

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

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

    RNA

    1. XR_008488310.1 RNA Sequence

    2. XR_008488311.1 RNA Sequence