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    L3HYPDH trans-L-3-hydroxyproline dehydratase [ Homo sapiens (human) ]

    Gene ID: 112849, updated on 11-Jun-2021

    Summary

    Official Symbol
    L3HYPDHprovided by HGNC
    Official Full Name
    trans-L-3-hydroxyproline dehydrataseprovided by HGNC
    Primary source
    HGNC:HGNC:20488
    See related
    Ensembl:ENSG00000126790 MIM:614811
    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
    C14orf149
    Summary
    The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in testis (RPKM 6.0), prostate (RPKM 5.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See L3HYPDH in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (59472606..59505266, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59939324..59951126, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dishevelled associated activator of morphogenesis 1 Neighboring gene G protein-coupled receptor 135 Neighboring gene coiled-coil domain containing 175 Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene reticulon 1 Neighboring gene microRNA 5586 Neighboring gene leucine rich repeat containing 9 Neighboring gene PCNX4 divergent transcript

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hydro-lyase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables proline racemase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables trans-L-3-hydroxyproline dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    trans-3-hydroxy-L-proline dehydratase
    Names
    L-3-hydroxyproline dehydratase (trans-)
    trans-3-hydroxy-l-proline dehydratase
    trans-3-hydroxyl-L-proline dehydratase
    NP_001318087.1
    NP_001318088.1
    NP_001318093.1
    NP_653182.1
    XP_024305230.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001331158.2NP_001318087.1  trans-3-hydroxy-L-proline dehydratase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequnce compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL159140
      Conserved Domains (1) summary
      cl27019
      Location:1181
      Pro_racemase; Proline racemase
    2. NM_001331159.1NP_001318088.1  trans-3-hydroxy-L-proline dehydratase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequnce compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL159140
      Conserved Domains (1) summary
      cl27019
      Location:1181
      Pro_racemase; Proline racemase
    3. NM_001331164.2NP_001318093.1  trans-3-hydroxy-L-proline dehydratase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL159140
    4. NM_144581.2NP_653182.1  trans-3-hydroxy-L-proline dehydratase isoform a

      See identical proteins and their annotated locations for NP_653182.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK058165, AL159140
      Consensus CDS
      CCDS9739.1
      UniProtKB/Swiss-Prot
      Q96EM0
      Related
      ENSP00000247194.4, ENST00000247194.9
      Conserved Domains (2) summary
      PRK13970
      Location:20347
      PRK13970; hydroxyproline-2-epimerase; Provisional
      pfam05544
      Location:22352
      Pro_racemase; Proline racemase

    RNA

    1. NR_138571.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL159140
    2. NR_138572.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL159140
    3. NR_138574.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL159140
    4. NR_138575.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice junction and retains an intron compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL159140

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      59472606..59505266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449462.1XP_024305230.1  trans-3-hydroxy-L-proline dehydratase isoform X1

      Conserved Domains (1) summary
      cl27019
      Location:1181
      Pro_racemase; Proline racemase

    RNA

    1. XR_943383.2 RNA Sequence

    2. XR_943384.3 RNA Sequence

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