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

    Gene ID: 112849, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:20488
    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
    NEW
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    Genomic context

    See L3HYPDH in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59465478..59505273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53672545..53712222, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 5803 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59655908-59656667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8458 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34577 Neighboring gene Sharpr-MPRA regulatory region 14842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5805 Neighboring gene dishevelled associated activator of morphogenesis 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8459 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59797736-59798544 Neighboring gene NANOG hESC enhancer GRCh37_chr14:59862330-59862839 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene G protein-coupled receptor 135 Neighboring gene coiled-coil domain containing 175 Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124167-60124668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124669-60125168 Neighboring gene reticulon 1 Neighboring gene microRNA 5586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5807 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:60386022-60387221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8464 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:60459076-60459307 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 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
    XP_047286856.1
    XP_047286858.1
    XP_047286859.1
    XP_054231286.1
    XP_054231287.1
    XP_054231288.1
    XP_054231289.1

    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, Q96LJ5
      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: 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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      59465478..59505273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430900.1XP_047286856.1  trans-3-hydroxy-L-proline dehydratase isoform X1

    2. XM_024449462.2XP_024305230.1  trans-3-hydroxy-L-proline dehydratase isoform X4

      Conserved Domains (1) summary
      cl27019
      Location:1181
      Pro_racemase; Proline racemase
    3. XM_047430903.1XP_047286859.1  trans-3-hydroxy-L-proline dehydratase isoform X3

    4. XM_047430902.1XP_047286858.1  trans-3-hydroxy-L-proline dehydratase isoform X2

    RNA

    1. XR_007063979.1 RNA Sequence

    2. XR_943383.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      53672545..53712222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375311.1XP_054231286.1  trans-3-hydroxy-L-proline dehydratase isoform X1

    2. XM_054375314.1XP_054231289.1  trans-3-hydroxy-L-proline dehydratase isoform X4

    3. XM_054375313.1XP_054231288.1  trans-3-hydroxy-L-proline dehydratase isoform X3

    4. XM_054375312.1XP_054231287.1  trans-3-hydroxy-L-proline dehydratase isoform X2

    RNA

    1. XR_008488817.1 RNA Sequence

    2. XR_008488816.1 RNA Sequence