PTER phosphotriesterase related [Homo sapiens (human)] - Gene

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: Enables N-acetyltaurine hydrolase activity. Involved in epithelial cell differentiation and taurine metabolic process. 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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity.
Title: PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

STS-AA018608 (e-PCR)
- UniSTS:8533

C1QL3_4481 (e-PCR)
- UniSTS:462784

RH48169 (e-PCR)
- UniSTS:7377

SHGC-132234 (e-PCR)
- UniSTS:170721

D10S674 (e-PCR), detects polymorphism
- UniSTS:50414

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 more info	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)

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 ...
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 ...
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 ...
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 ...
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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

16437010..16519020

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426006.1 → XP_047281962.1 phosphotriesterase-related protein isoform X1
XM_047426007.1 → XP_047281963.1 phosphotriesterase-related protein isoform X3
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 ...
XM_017016927.3 → XP_016872416.1 phosphotriesterase-related protein isoform X2