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

Gene ID: 112849, updated on 17-Jun-2019

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

Genomic context

See L3HYPDH in Genome Data Viewer
Location:
14q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (59472606..59505266, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59925698..59951281, 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 uncharacterized LOC105370524 Neighboring gene leucine rich repeat containing 9

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydro-lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT proline racemase activity IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001331158.1NP_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_138571.1 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)
    AA483488, AL159140
  2. NR_138572.1 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)
    AA483488, AL159140
  3. NR_138574.1 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)
    AA483488, AL159140
  4. NR_138575.1 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)
    AA483488, AL159140

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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