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Aliases for L3HYPDH Gene

Aliases for L3HYPDH Gene

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

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. 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.

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

Genomics for L3HYPDH Gene

Regulatory Elements for L3HYPDH Gene

Promoters for L3HYPDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around L3HYPDH on UCSC Golden Path with GeneCards custom track

Genomic Location for L3HYPDH Gene

Chromosome:
14
Start:
59,460,363 bp from pter
End:
59,484,438 bp from pter
Size:
24,076 bases
Orientation:
Minus strand

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

Proteomics data for L3HYPDH Gene at MOPED

Post-translational modifications for L3HYPDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for L3HYPDH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for L3HYPDH Gene

Domains & Families for L3HYPDH Gene

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

No data available for Gene Families for L3HYPDH Gene

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:0018112 NOT proline racemase activity IEA,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

CRISPR Products

miRNA for L3HYPDH Gene

miRTarBase miRNAs that target L3HYPDH

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

Localization for L3HYPDH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for L3HYPDH Gene COMPARTMENTS Subcellular localization image for L3HYPDH gene
Compartment Confidence
nucleus 3
cytosol 2
peroxisome 2

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

Interacting Proteins for L3HYPDH Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000247194%0d%0a9606.ENSP00000228476%0d%0a9606.ENSP00000233055%0d%0a
Selected Interacting proteins: ENSP00000247194 for L3HYPDH Gene via STRING

Gene Ontology (GO) - Biological Process for L3HYPDH Gene

None

No data available for SIGNOR curated interactions for L3HYPDH Gene

Drugs & Compounds for L3HYPDH Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Trans-3-hydroxy-L-proline
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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 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, MOPED, and MaxQB for L3HYPDH Gene



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.
genes like me logo Genes that share expression patterns with L3HYPDH: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia L3HYPDH 35
  • 88.79 (n)
  • 90.4 (a)
L3HYPDH 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia L3HYPDH 35
  • 90.3 (n)
  • 92.37 (a)
L3HYPDH 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia L3hypdh 35
  • 83.71 (n)
  • 88.98 (a)
L3hypdh 16
L3hypdh 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia L3HYPDH 35
  • 99.25 (n)
  • 99.04 (a)
C14ORF149 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia L3hypdh 35
  • 84.56 (n)
  • 89.83 (a)
oppossum
(Monodelphis domestica)
Mammalia L3HYPDH 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia L3HYPDH 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14ORF149 35
  • 68.6 (n)
  • 68.9 (a)
L3HYPDH 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia L3HYPDH 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia l3hypdh 35
  • 70.46 (n)
  • 71.72 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC565785 35
  • 66.76 (n)
  • 71.3 (a)
CABZ01039235.1 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4463 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
Species with no ortholog for L3HYPDH:
  • 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 Sequence Context AA Info Type
VAR_032540 -
rs1046701 - 59,473,086(-) GGAAG(C/T)GAAAT intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
rs8660 - 59,473,009(-) TTATA(A/G)TAGAA intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_062192 -
rs10148 -- 59,472,963(+) GAAGA(A/T)GTCAC intron-variant, nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for L3HYPDH Gene

HapMap Linkage Disequilibrium report
L3HYPDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for L3HYPDH Gene

Disorders for L3HYPDH Gene

Relevant External Links for L3HYPDH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 W.F. … de Koning T.J. (J. Biol. Chem. 2012) 2 3 4 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for L3HYPDH Gene

Sources for L3HYPDH Gene

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