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Aliases for L3HYPDH Gene

Aliases for L3HYPDH Gene

  • Trans-L-3-Hydroxyproline Dehydratase 2 3 4 5
  • L-3-Hydroxyproline Dehydratase (Trans-) 2 3
  • C14orf149 3 4
  • Trans-3-Hydroxyl-L-Proline Dehydratase 3
  • Trans-3-Hydroxy-L-Proline Dehydratase 3
  • Chromosome 14 Open Reading Frame 149 2
  • EC 4.2.1.77 4

External Ids for L3HYPDH Gene

Previous HGNC Symbols for L3HYPDH Gene

  • C14orf149

Previous GeneCards Identifiers for L3HYPDH Gene

  • GC14M059939
  • GC14M059928

Summaries for L3HYPDH Gene

Entrez Gene Summary for L3HYPDH Gene

  • 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]

GeneCards Summary for L3HYPDH Gene

L3HYPDH (Trans-L-3-Hydroxyproline Dehydratase) is a Protein Coding gene. Among its related pathways are Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include hydro-lyase activity and trans-L-3-hydroxyproline dehydratase activity.

UniProtKB/Swiss-Prot for L3HYPDH Gene

  • Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it.

Additional gene information for L3HYPDH Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for L3HYPDH Gene

Genomics for L3HYPDH Gene

GeneHancer (GH) Regulatory Elements for L3HYPDH Gene

Promoters and enhancers for L3HYPDH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I059481 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 606 +0.5 474 5.4 HDGF PKNOX1 CLOCK FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B L3HYPDH JKAMP GPR135 PCNX4 RBM8B ENSG00000258782
GH14I059463 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 35.7 +19.5 19533 2.1 MXI1 FOXA2 SAP130 BACH1 ARID4B SIN3A BMI1 E2F1 CTBP1 EZH2 GPR135 GC14M059465 PIR32681 L3HYPDH
GH14I059187 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.4 +295.2 295198 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B IRF4 YY1 ZNF766 ZNF207 DAAM1 KIAA0586 L3HYPDH ENSG00000258682 PSMA3-AS1 HMGB1P14 ARID4A GC14P059252
GH14I059405 Enhancer 1.2 FANTOM5 Ensembl ENCODE 29.9 +77.3 77251 2.6 ELF3 SOX13 TFAP4 FOXA2 JUN RAD21 TCF12 NCOR1 HNF4G FOS L3HYPDH JKAMP RTN1 DAAM1 RBM8B GC14P059386 PIR32681
GH14I060090 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 14.1 -609.3 -609281 6.2 HDGF FOXA2 PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 IRF4 YY1 PCNX4 LOC105370524 DHRS7 L3HYPDH SCOCP1 TRMT5 GC14P060140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around L3HYPDH on UCSC Golden Path with GeneCards custom track

Genomic Locations for L3HYPDH Gene

Genomic Locations for L3HYPDH Gene
chr14:59,460,363-59,484,438
(GRCh38/hg38)
Size:
24,076 bases
Orientation:
Minus strand
chr14:59,927,081-59,951,148
(GRCh37/hg19)

Genomic View for L3HYPDH Gene

Genes around L3HYPDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L3HYPDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L3HYPDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L3HYPDH Gene

Proteins for L3HYPDH Gene

  • Protein details for L3HYPDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EM0-T3HPD_HUMAN
    Recommended name:
    Trans-3-hydroxy-L-proline dehydratase
    Protein Accession:
    Q96EM0
    Secondary Accessions:
    • Q96LJ5

    Protein attributes for L3HYPDH Gene

    Size:
    354 amino acids
    Molecular mass:
    38138 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • In contrast to the T.cruzi proline racemase enzyme, lacks the conserved Cys at position 273 which is replaced by a Thr residue, transforming the racemase activity into dehydratase activity.

neXtProt entry for L3HYPDH Gene

Post-translational modifications for L3HYPDH Gene

No Post-translational modifications

No data available for DME Specific Peptides for L3HYPDH Gene

Domains & Families for L3HYPDH Gene

Gene Families for L3HYPDH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for L3HYPDH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for L3HYPDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EM0

UniProtKB/Swiss-Prot:

T3HPD_HUMAN :
  • Belongs to the proline racemase family.
Family:
  • Belongs to the proline racemase family.
genes like me logo Genes that share domains with L3HYPDH: view

Function for L3HYPDH Gene

Molecular function for L3HYPDH Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.23 mM for trans-3-hydroxy-L-proline {ECO:0000269 PubMed:22528483}; Vmax=39.5 umol/min/mg enzyme {ECO:0000269 PubMed:22528483}; pH dependence: Optimum pH is 8.0. {ECO:0000269 PubMed:22528483};
UniProtKB/Swiss-Prot CatalyticActivity:
Trans-3-hydroxy-L-proline = 1-pyrroline 2-carboxylate + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it.

Enzyme Numbers (IUBMB) for L3HYPDH Gene

Gene Ontology (GO) - Molecular Function for L3HYPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016829 lyase activity IEA --
GO:0016836 hydro-lyase activity IDA,IEA 22528483
GO:0018112 NOT proline racemase activity IDA 22528483
GO:0050346 trans-L-3-hydroxyproline dehydratase activity IEA --
genes like me logo Genes that share ontologies with L3HYPDH: view
genes like me logo Genes that share phenotypes with L3HYPDH: view

Animal Model Products

miRNA for L3HYPDH Gene

miRTarBase miRNAs that target L3HYPDH

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for L3HYPDH Gene

Localization for L3HYPDH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for L3HYPDH gene
Compartment Confidence
nucleus 3
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for L3HYPDH Gene

Pathways & Interactions for L3HYPDH Gene

genes like me logo Genes that share pathways with L3HYPDH: view

Pathways by source for L3HYPDH Gene

1 KEGG pathway for L3HYPDH Gene

Gene Ontology (GO) - Biological Process for L3HYPDH Gene

None

No data available for SIGNOR curated interactions for L3HYPDH Gene

Drugs & Compounds for L3HYPDH Gene

(3) Drugs for L3HYPDH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Water Approved Pharma 0
D-Proline Experimental Pharma 0

(1) Additional Compounds for L3HYPDH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Trans-3-hydroxy-L-proline
genes like me logo Genes that share compounds with L3HYPDH: view

Transcripts for L3HYPDH Gene

Unigene Clusters for L3HYPDH Gene

L-3-hydroxyproline dehydratase (trans-):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for L3HYPDH Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - - - -
SP2: - -
SP3:
SP4: -
SP5:

Relevant External Links for L3HYPDH Gene

GeneLoc Exon Structure for
L3HYPDH
ECgene alternative splicing isoforms for
L3HYPDH

Expression for L3HYPDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for L3HYPDH Gene

Protein differential expression in normal tissues from HIPED for L3HYPDH Gene

This gene is overexpressed in Nasopharynx (8.4), Uterus (6.9), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for L3HYPDH Gene



NURSA nuclear receptor signaling pathways regulating expression of L3HYPDH Gene:

L3HYPDH

SOURCE GeneReport for Unigene cluster for L3HYPDH Gene:

Hs.729061

mRNA Expression by UniProt/SwissProt for L3HYPDH Gene:

Q96EM0-T3HPD_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for L3HYPDH Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with L3HYPDH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for L3HYPDH Gene

Orthologs for L3HYPDH Gene

This gene was present in the common ancestor of chordates.

Orthologs for L3HYPDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia L3HYPDH 33
  • 99.25 (n)
C14ORF149 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia L3HYPDH 33 34
  • 90.3 (n)
cow
(Bos Taurus)
Mammalia L3HYPDH 33 34
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia L3hypdh 33
  • 84.56 (n)
mouse
(Mus musculus)
Mammalia L3hypdh 33 16 34
  • 83.71 (n)
oppossum
(Monodelphis domestica)
Mammalia L3HYPDH 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia L3HYPDH 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14ORF149 33
  • 68.6 (n)
L3HYPDH 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia L3HYPDH 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia l3hypdh 33
  • 70.46 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01039235.1 34
  • 71 (a)
OneToOne
LOC565785 33
  • 66.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4463 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
Species where no ortholog for L3HYPDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for L3HYPDH Gene

ENSEMBL:
Gene Tree for L3HYPDH (if available)
TreeFam:
Gene Tree for L3HYPDH (if available)

Paralogs for L3HYPDH Gene

No data available for Paralogs for L3HYPDH Gene

Variants for L3HYPDH Gene

Sequence variations from dbSNP and Humsavar for L3HYPDH Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000114168 -- 59,467,607(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000204741 -- 59,470,907(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000288459 -- 59,484,237(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000309126 -- 59,486,240(-) C/G upstream_transcript_variant
rs1000385394 -- 59,477,654(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for L3HYPDH Gene

Variant ID Type Subtype PubMed ID
nsv832810 CNV loss 17160897

Variation tolerance for L3HYPDH Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for L3HYPDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
L3HYPDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L3HYPDH Gene

Disorders for L3HYPDH Gene

Additional Disease Information for L3HYPDH

No disorders were found for L3HYPDH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for L3HYPDH Gene

Publications for L3HYPDH Gene

  1. Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes. (PMID: 22528483) Visser WF … de Koning TJ (The Journal of biological chemistry 2012) 2 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. Identification and characterization of trans-3-hydroxy-l-proline dehydratase and Δ(1)-pyrroline-2-carboxylate reductase involved in trans-3-hydroxy-l-proline metabolism of bacteria. (PMID: 24649405) Watanabe S … Watanabe Y (FEBS open bio 2014) 4 58
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 58

Products for L3HYPDH Gene

Sources for L3HYPDH Gene

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