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PTER phosphotriesterase related [ Homo sapiens (human) ]

Gene ID: 9317, updated on 1-Aug-2020

Summary

Official Symbol
PTERprovided by HGNC
Official Full Name
phosphotriesterase relatedprovided by HGNC
Primary source
HGNC:HGNC:9590
See related
Ensembl:ENSG00000165983 MIM:604446
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
Expression
Ubiquitous expression in kidney (RPKM 11.0), brain (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See PTER in Genome Data Viewer
Location:
10p13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (16436943..16517962)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (16478942..16555744)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1075, pseudogene Neighboring gene long intergenic non-protein coding RNA 2654 Neighboring gene RNA, U2 small nuclear 18, pseudogene Neighboring gene uncharacterized LOC101928701 Neighboring gene complement C1q like 3 Neighboring gene Sharpr-MPRA regulatory region 4915 Neighboring gene Ras suppressor protein 1

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

NHGRI GWAS Catalog

Description
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_001001484.2NP_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, DA146922
    Consensus CDS
    CCDS7111.1
    UniProtKB/Swiss-Prot
    Q96BW5
    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_001261836.1NP_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
    Q96BW5
    Related
    ENSP00000439485.1, ENST00000535784.6
    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_001261837.1NP_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, DA146922
    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_001261838.1NP_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, DA146922
    Consensus CDS
    CCDS73070.1
    UniProtKB/Swiss-Prot
    Q96BW5
    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_030664.4NP_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, DA146922
    Consensus CDS
    CCDS7111.1
    UniProtKB/Swiss-Prot
    Q96BW5
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    16436943..16517962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016929.2XP_016872418.1  phosphotriesterase-related protein isoform X3

    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 ...
  2. XM_017016928.2XP_016872417.1  phosphotriesterase-related protein isoform X2

  3. XM_017016930.2XP_016872419.1  phosphotriesterase-related protein isoform X3

    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_017016927.2XP_016872416.1  phosphotriesterase-related protein isoform X1

RNA

  1. XR_001747258.1 RNA Sequence

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