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TRHDE thyrotropin releasing hormone degrading enzyme [ Homo sapiens (human) ]

Gene ID: 29953, updated on 5-Mar-2024

Summary

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Official Symbol
TRHDEprovided by HGNC
Official Full Name
thyrotropin releasing hormone degrading enzymeprovided by HGNC
Primary source
HGNC:HGNC:30748
See related
Ensembl:ENSG00000072657 MIM:606950; AllianceGenome:HGNC:30748
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAP-II; PGPEP2; TRH-DE
Summary
This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]
Expression
Broad expression in brain (RPKM 3.0), fat (RPKM 2.9) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
12q21.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (72087266..72670758)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (72063195..72646521)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72666150..73064538)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1826 silencer Neighboring gene Sharpr-MPRA regulatory region 15327 Neighboring gene TBC1 domain family member 15 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72332491-72332790 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72342997-72343855 Neighboring gene NANOG hESC enhancer GRCh37_chr12:72352432-72352933 Neighboring gene MRS2 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15256 Neighboring gene NANOG hESC enhancer GRCh37_chr12:72431129-72431630 Neighboring gene tryptophan hydroxylase 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:72608405-72609204 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:72609205-72610002 Neighboring gene TRHDE antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:72837794-72838295 Neighboring gene MPRA-validated peak1828 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72913564-72914146 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72914147-72914728 Neighboring gene H3 histone pseudogene 35 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72984702-72984887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:73033440-73033988 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73102101-73102706 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73209905-73210447 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:73266315-73267514 Neighboring gene uncharacterized LOC105369838 Neighboring gene MPRA-validated peak1829 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73394447-73395222 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:73584169-73585368 Neighboring gene long intergenic non-protein coding RNA 2444

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human TRH-degrading ectoenzyme cDNA cloning, functional expression, genomic structure and chromosomal assignment. Schomburg L, et al. Eur J Biochem, 1999 Oct 1. PMID 10491199
  2. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. Freudenberg J, et al. Arthritis Rheum, 2011 Apr. PMID 21452313
  3. PAP I interacts with itself, PAP II, PAP III, and lithostathine/regIalpha. Bödeker H, et al. Mol Cell Biol Res Commun, 1999 Sep-Dec. PMID 10662590
  4. Chemerin, a novel adipokine in the regulation of angiogenesis. Bozaoglu K, et al. J Clin Endocrinol Metab, 2010 May. PMID 20237162, Free PMC Article
  5. Vimentin is a novel AKT1 target mediating motility and invasion. Zhu QS, et al. Oncogene, 2011 Jan 27. PMID 20856200, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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
Chemerin, a novel adipokine in the regulation of angiogenesis.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog
Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminopeptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyroglutamyl-peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
thyrotropin-releasing hormone-degrading ectoenzyme
Names
TRH-degrading ectoenzyme
TRH-specific aminopeptidase
pyroglutamyl aminopeptidase II
pyroglutamyl-peptidase II
thyroliberinase
NP_037513.2
XP_005268876.3
XP_011536550.1
XP_016874732.3
XP_016874733.1
XP_054227870.1
XP_054227871.1
XP_054227872.1
XP_054227873.1

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.

Genomic

  1. NG_046971.1 RefSeqGene

    Range
    5170..398063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013381.3 → NP_037513.2  thyrotropin-releasing hormone-degrading ectoenzyme

    Status: REVIEWED

    Source sequence(s)
    AC016256, AC078921, AC087886, AC133480
    Consensus CDS
    CCDS9004.2
    UniProtKB/Swiss-Prot
    A5PL19, H0YHU0, Q6UWJ4, Q9UKU6
    Related
    ENSP00000261180.5, ENST00000261180.10
    Conserved Domains (2) summary
    cd09601
    Location:193 → 638
    M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)
    pfam11838
    Location:723 → 1047
    ERAP1_C; ERAP1-like C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    72087266..72670758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019244.2 → XP_016874733.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X3

    Conserved Domains (1) summary
    cd09601
    Location:1 → 290
    M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

  2. XM_017019243.3 → XP_016874732.3  thyrotropin-releasing hormone-degrading ectoenzyme isoform X1

  3. XM_005268819.6 → XP_005268876.3  thyrotropin-releasing hormone-degrading ectoenzyme isoform X2

  4. XM_011538248.3 → XP_011536550.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X4

    Conserved Domains (2) summary
    pfam11838
    Location:274 → 593
    ERAP1_C; ERAP1-like C-terminal domain
    cl14813
    Location:1 → 193
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    72063195..72646521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371897.1 → XP_054227872.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X3

  2. XM_054371895.1 → XP_054227870.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X1

  3. XM_054371896.1 → XP_054227871.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X2

  4. XM_054371898.1 → XP_054227873.1  thyrotropin-releasing hormone-degrading ectoenzyme isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKU6.2 GenPept UniProtKB/Swiss-Prot:Q9UKU6

Gene LinkOut

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