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

    Gene ID: 29953, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See TRHDE in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (72087266..72670758)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (72063195..72646521)
    RS_2024_09 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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