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PTER

gene
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Summary

PTER (phosphotriesterase related, HGNC:9590) is a protein-coding gene on chromosome 10p13, encoding N-acetyltaurine hydrolase (Q96BW5). N-acetyltaurine hydrolase that regulates feeding by catalyzing the hydrolysis of N-acetyltaurine into taurine and acetate.

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

Source: NCBI Gene 9317 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 71 total
  • MANE Select transcript: NM_001261836

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9590
Approved symbolPTER
Namephosphotriesterase related
Location10p13
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000165983
Ensembl biotypeprotein_coding
OMIM604446
Entrez9317

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 23 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000298942, ENST00000378000, ENST00000423462, ENST00000485788, ENST00000535784, ENST00000899248, ENST00000899249, ENST00000899250, ENST00000899251, ENST00000899252, ENST00000899253, ENST00000899254, ENST00000899255, ENST00000899256, ENST00000899257, ENST00000899258, ENST00000899259, ENST00000899260, ENST00000899261, ENST00000916347, ENST00000916348, ENST00000916349, ENST00000955113, ENST00000955114

RefSeq mRNA: 5 — MANE Select: NM_001261836 NM_001001484, NM_001261836, NM_001261837, NM_001261838, NM_030664

CCDS: CCDS58070, CCDS7111, CCDS73070

Canonical transcript exons

ENST00000535784 — 5 exons

ExonStartEnd
ENSE000010986811650502016505160
ENSE000011212611648433716484816
ENSE000022083321651104616513745
ENSE000037497171648635216486617
ENSE000039125451643701016437047

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 92.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2603 / max 137.7989, expressed in 1482 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1040076.00831465
1040060.2519117

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
anterior cingulate cortexUBERON:000983592.44gold quality
cingulate cortexUBERON:000302792.30gold quality
jejunal mucosaUBERON:000039990.61gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450290.10gold quality
Brodmann (1909) area 9UBERON:001354089.39gold quality
corpus epididymisUBERON:000435989.37gold quality
prefrontal cortexUBERON:000045189.03gold quality
right frontal lobeUBERON:000281088.42gold quality
nephron tubuleUBERON:000123188.02gold quality
renal medullaUBERON:000036287.95gold quality
dorsolateral prefrontal cortexUBERON:000983487.67gold quality
calcaneal tendonUBERON:000370187.43gold quality
caput epididymisUBERON:000435887.07gold quality
lower lobe of lungUBERON:000894986.99gold quality
biceps brachiiUBERON:000150786.97gold quality
nasal cavity epitheliumUBERON:000538486.53gold quality
adult mammalian kidneyUBERON:000008286.39gold quality
kidneyUBERON:000211386.02gold quality
jejunumUBERON:000211585.79gold quality
mammary ductUBERON:000176585.64gold quality
cauda epididymisUBERON:000436085.60gold quality
islet of LangerhansUBERON:000000685.52gold quality
amygdalaUBERON:000187685.48gold quality
kidney epitheliumUBERON:000481985.34gold quality
neocortexUBERON:000195084.88gold quality
palpebral conjunctivaUBERON:000181284.82gold quality
duodenumUBERON:000211484.80gold quality
epithelium of mammary glandUBERON:000324484.55gold quality
frontal cortexUBERON:000187084.16gold quality
frontal lobeUBERON:001652584.16gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

162 targeting PTER, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-656-3P100.0072.152788
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-3924100.0072.092394
HSA-MIR-3646100.0073.565283
HSA-MIR-3163100.0077.238605
HSA-MIR-8485100.0077.574731
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-126-5P100.0072.713180
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-548AW99.9972.573559
HSA-MIR-453199.9969.703181
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-548P99.9872.253784
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-4789-5P99.9870.762721

Literature-anchored findings (GeneRIF, showing 4)

  • 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). (PMID:19151714)
  • 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 . (PMID:24750591)
  • Phosphotriesterase-related protein as a novel prognostic predictor for hepatocellular carcinoma patients. (PMID:37699602)
  • PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity. (PMID:39112712)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriopterENSDARG00000063375
mus_musculusPterENSMUSG00000026730
rattus_norvegicusPterENSRNOG00000017328
drosophila_melanogasterCG18473FBGN0037683

Protein

Protein identifiers

N-acetyltaurine hydrolase — Q96BW5 (reviewed: Q96BW5)

Alternative names: Phosphotriesterase-related protein

All UniProt accessions (2): A0A0A0MSI3, Q96BW5

UniProt curated annotations — full annotation on UniProt →

Function. N-acetyltaurine hydrolase that regulates feeding by catalyzing the hydrolysis of N-acetyltaurine into taurine and acetate. N-acetyltaurine has anorexigenic and anti-obesity effects that are dependent on GFRAL receptor and GDF15. PTER also acts on other N-acetyl amino acids (Met, Ile, Leu, Val) and N-propionyltaurine, but at lower rates.

Subcellular location. Cytoplasm. Cytosol.

Cofactor. Binds 2 divalent metal cations per subunit.

Similarity. Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family.

Isoforms (2)

UniProt IDNamesCanonical?
Q96BW5-11yes
Q96BW5-22

RefSeq proteins (5): NP_001001484, NP_001248765, NP_001248766, NP_001248767, NP_109589 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001559PhosphotriesteraseFamily
IPR017947AryldialkylPase_Zn-BSBinding_site
IPR032466Metal_HydrolaseHomologous_superfamily

Pfam: PF02126

Catalyzed reactions (Rhea), 6 shown:

  • N-acetyl-L-methionine + H2O = L-methionine + acetate (RHEA:67440)
  • N-acetyltaurine + H2O = taurine + acetate (RHEA:81107)
  • N-propanoyltaurine + H2O = propanoate + taurine (RHEA:81111)
  • N-acetyl-L-leucine + H2O = L-leucine + acetate (RHEA:81115)
  • N-acetyl-L-isoleucine + H2O = L-isoleucine + acetate (RHEA:81119)
  • N-acetyl-L-valine + H2O = L-valine + acetate (RHEA:81123)

UniProt features (12 total): binding site 7, sequence conflict 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96BW5-F197.600.99

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 26; 28; 169; 169; 201; 230; 298

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 167 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, AAGCCAT_MIR135A_MIR135B, LA_MEN1_TARGETS, chr10p13, ATTACAT_MIR3803P, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, GGCAGTG_MIR3243P, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_REGULATION_OF_APPETITE, BASAKI_YBX1_TARGETS_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, ATGTTTC_MIR494, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, PIONTEK_PKD1_TARGETS_UP

GO Biological Process (4): taurine metabolic process (GO:0019530), epithelial cell differentiation (GO:0030855), regulation of appetite (GO:0032098), catabolic process (GO:0009056)

GO Molecular Function (6): zinc ion binding (GO:0008270), N-acetyltaurine hydrolase activity (GO:0141215), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788), metal ion binding (GO:0046872)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
alkanesulfonate metabolic process1
cell differentiation1
epithelium development1
response to nutrient levels1
regulation of biological quality1
metabolic process1
transition metal ion binding1
hydrolase activity, acting on ester bonds1
binding1
catalytic activity1
hydrolase activity1
cation binding1
cytoplasm1
extracellular vesicle1
intracellular anatomical structure1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PTERPOP5Q969H6655
PTERTMEM18Q96B42616
PTERKCTD15Q96SI1604
PTERSEC16BQ96JE7603
PTERGNPDA2Q8TDQ7602
PTERSH2B1Q9NRF2580
PTERFAIM2Q9BWQ8580
PTERMTCH2Q9Y6C9574
PTERPOP7O75817557
PTERNEGR1Q7Z3B1542
PTERLEPP41159532
PTERCCDC179H3BU77530
PTERNPC1O15118519
PTERGTF3C1Q12789507
PTERPIK3C2AO00443497

IntAct

35 interactions, top by confidence:

ABTypeScore
CDKN2DCDK4psi-mi:“MI:0914”(association)0.970
PDCL3PEX7psi-mi:“MI:0914”(association)0.640
GSC2PTERpsi-mi:“MI:0915”(physical association)0.560
S1PR2PALM3psi-mi:“MI:0914”(association)0.530
NPDC1TCAF2psi-mi:“MI:0914”(association)0.530
TMEM51WWP2psi-mi:“MI:0914”(association)0.530
MRM3NDUFS6psi-mi:“MI:0914”(association)0.530
SNX3VPS26Apsi-mi:“MI:0914”(association)0.530
LHFPL4ATP5F1Bpsi-mi:“MI:0914”(association)0.530
PTERpsi-mi:“MI:0915”(physical association)0.370
CCT2WDR91psi-mi:“MI:0914”(association)0.350
GJD4STXBP3psi-mi:“MI:0914”(association)0.350
KHDRBS2SUPT5Hpsi-mi:“MI:0914”(association)0.350
TIMM10DCTN6psi-mi:“MI:0914”(association)0.350
DNAJB3MEIS1psi-mi:“MI:0914”(association)0.350
CARTPTMEIS1psi-mi:“MI:0914”(association)0.350
BTF3NACADpsi-mi:“MI:0914”(association)0.350
LIPHB4GALT5psi-mi:“MI:0914”(association)0.350
SHISA6KLHL18psi-mi:“MI:0914”(association)0.350
MTPNPLCG1psi-mi:“MI:0914”(association)0.350
HYAL3CANXpsi-mi:“MI:0914”(association)0.350
TEKT2METAP2psi-mi:“MI:0914”(association)0.350
MT2APLS1psi-mi:“MI:0914”(association)0.350
TMEM263TBCEpsi-mi:“MI:0914”(association)0.350
SERBP1UBA6psi-mi:“MI:0914”(association)0.350
UBXN6ZSWIM8psi-mi:“MI:0914”(association)0.350
SF3B3MYO9Apsi-mi:“MI:0914”(association)0.350
HYAL3CLGNpsi-mi:“MI:0914”(association)0.350
CHRNA7NME2P1psi-mi:“MI:0914”(association)0.350
SLC27A6NBASpsi-mi:“MI:0914”(association)0.350

BioGRID (55): PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), ABCE1 (Co-fractionation), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS), PTER (Affinity Capture-MS)

ESM2 similar proteins: A1JN45, A3QCT9, A5PJV3, A6QLJ8, A6VXW9, A7N3D6, A7RFA1, A9JTS9, B0CF78, B0JQJ1, B0TN99, B1KMJ3, B3EAK5, B3M070, B3P1R1, B4GP48, B4HKF2, B4J340, B4K4Y6, B4LW09, B4NAJ1, B4PUM2, B5ESI0, B5X4Y9, B6ER91, B7LT74, B7VR44, B8CL73, C3LWF8, O34873, P39377, P45548, Q07WS8, Q0IEH7, Q0P3Z2, Q29BL3, Q4RWX9, Q54BV6, Q5E1G0, Q5R5E9

Diamond homologs: A6QLJ8, A7RFA1, A9JTS9, B3M070, B3P1R1, B4GP48, B4HKF2, B4J340, B4K4Y6, B4LW09, B4NAJ1, B4PUM2, B5X4Y9, P45548, Q0IEH7, Q0P3Z2, Q29BL3, Q4RWX9, Q54BV6, Q5R5E9, Q60866, Q63530, Q7SZS2, Q96BW5, Q9VHF2, P9WHN8, P9WHN9, Q97VT7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

71 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance62
Likely benign3
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1159 predictions. Top by Δscore:

VariantEffectΔscore
10:16484334:TAGA:Tacceptor_loss1.0000
10:16484335:A:ACacceptor_loss1.0000
10:16484335:A:AGacceptor_gain1.0000
10:16484336:G:GGacceptor_gain1.0000
10:16484814:CAGGT:Cdonor_loss1.0000
10:16484815:AG:Adonor_loss1.0000
10:16484816:GG:Gdonor_loss1.0000
10:16484818:T:Gdonor_loss1.0000
10:16486350:A:AGacceptor_gain1.0000
10:16486351:G:GGacceptor_gain1.0000
10:16505011:T:TAacceptor_gain1.0000
10:16505015:TCTA:Tacceptor_loss1.0000
10:16505016:CTAG:Cacceptor_loss1.0000
10:16505017:TAG:Tacceptor_loss1.0000
10:16505018:A:AGacceptor_gain1.0000
10:16505018:A:Tacceptor_loss1.0000
10:16505018:AG:Aacceptor_gain1.0000
10:16505019:G:GAacceptor_gain1.0000
10:16505019:GG:Gacceptor_gain1.0000
10:16505019:GGA:Gacceptor_gain1.0000
10:16505019:GGAC:Gacceptor_gain1.0000
10:16505019:GGACT:Gacceptor_gain1.0000
10:16505158:AAG:Adonor_loss1.0000
10:16505161:G:Cdonor_loss1.0000
10:16514707:CCTA:Cacceptor_gain1.0000
10:16437045:GAG:Gdonor_gain0.9900
10:16437045:GAGGT:Gdonor_loss0.9900
10:16437046:AGGTA:Adonor_loss0.9900
10:16437047:GGT:Gdonor_loss0.9900
10:16437048:GT:Gdonor_loss0.9900

AlphaMissense

2291 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:16511099:A:TD298V0.998
10:16511100:C:AD298E0.997
10:16511100:C:GD298E0.997
10:16511099:A:CD298A0.995
10:16486609:C:AH230Q0.993
10:16486609:C:GH230Q0.993
10:16511098:G:CD298H0.992
10:16486425:A:TE169V0.991
10:16484460:C:GH26D0.990
10:16484466:C:GH28D0.990
10:16486520:C:GH201D0.990
10:16511092:G:CA296P0.990
10:16484724:G:CA114P0.989
10:16486607:C:GH230D0.989
10:16505082:A:TD254V0.989
10:16511098:G:TD298Y0.989
10:16484468:C:AH28Q0.988
10:16484468:C:GH28Q0.988
10:16484635:T:CL84P0.988
10:16511239:T:AW345R0.988
10:16511239:T:CW345R0.988
10:16484749:T:AI122K0.987
10:16484761:G:AG126E0.987
10:16511141:G:TG312V0.987
10:16505087:T:CF256L0.986
10:16505089:T:AF256L0.986
10:16505089:T:GF256L0.986
10:16511117:G:CR304P0.986
10:16511141:G:AG312D0.985
10:16511153:T:AI316K0.985

dbSNP variants (sampled 300 via entrez): RS1000024813 (10:16443163 G>T), RS1000025787 (10:16482749 G>T), RS1000025843 (10:16489570 A>T), RS1000042996 (10:16477632 G>A), RS1000052805 (10:16443176 G>A,T), RS1000060872 (10:16516467 A>G), RS1000127659 (10:16498413 A>C,G,T), RS1000130977 (10:16485011 T>C,G), RS1000148150 (10:16479032 T>C), RS1000274489 (10:16472579 G>A,T), RS1000282471 (10:16492806 T>C), RS1000324653 (10:16467965 T>G), RS1000343032 (10:16503549 C>A,T), RS1000355698 (10:16454539 G>A), RS1000378589 (10:16467760 A>C,G)

Disease associations

OMIM: gene MIM:604446 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST000317_1Obesity2.000000e-07
GCST002826_14Urate levels (BMI interaction)3.000000e-06
GCST004403_4Bone fracture in osteoporosis4.000000e-06
GCST009997_5Thyroid volume in Hashimoto’s thyroiditis1.000000e-07
GCST012020_576Serum metabolite levels1.000000e-24
GCST012021_24Serum metabolite levels1.000000e-24

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0004531urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
methylmercuric chloridedecreases expression2
bisphenol Aincreases expression, increases methylation2
potassium chromate(VI)affects cotreatment, decreases expression, increases expression2
Valproic Acidaffects expression, increases expression2
Cyclosporineincreases expression, decreases expression2
Particulate Matterincreases abundance, increases expression2
TAK-243increases sumoylation1
dicrotophosdecreases expression1
2,4,6-tribromophenoldecreases expression1
triphenyl phosphateaffects expression1
pirinixic acidaffects binding, increases activity, increases expression1
decabromobiphenyl etherdecreases expression1
trichostatin Aincreases expression1
sulforaphaneincreases expression1
sodium arseniteincreases expression1
tetrabromobisphenol Adecreases expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
chromium hexavalent ionaffects expression1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
pentabrominated diphenyl ether 100decreases expression1
hexabrominated diphenyl ether 153decreases expression1
bisphenol Sincreases expression1
Resveratrolaffects cotreatment, increases expression1
Vorinostatincreases expression1
Acetaminophenincreases expression1
Air Pollutantsincreases abundance, increases expression1
Vehicle Emissionsincreases expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Doxorubicindecreases expression1
Gallic Aciddecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bone fracture

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
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Sources 74

This page pulls from 74 datasets indexed by BioBTree:

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