This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have bee... See more...

Aliases for DPYSL5 Gene

Aliases for DPYSL5 Gene

  • Dihydropyrimidinase Like 5 2 3 5
  • CRMP-5 2 3 4
  • CRMP5 2 3 4
  • CRAM 2 3 4
  • Collapsin Response Mediator Protein 5 2 4
  • Dihydropyrimidinase-Related Protein 5 3 4
  • UNC33-Like Phosphoprotein 6 3 4
  • CRMP3-Associated Molecule 3 4
  • ULIP-6 3 4
  • Ulip6 2 3
  • DRP-5 3 4
  • CV2 2 3
  • Collapsin Response Mediator Protein-5 3
  • Dihydropyrimidinase-Like 5 2
  • DPYSL5 5
  • ULIP6 4

External Ids for DPYSL5 Gene

Previous GeneCards Identifiers for DPYSL5 Gene

  • GC02P027163
  • GC02P027028
  • GC02P027045
  • GC02P026982
  • GC02P026812
  • GC02P027070

Summaries for DPYSL5 Gene

Entrez Gene Summary for DPYSL5 Gene

  • This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

GeneCards Summary for DPYSL5 Gene

DPYSL5 (Dihydropyrimidinase Like 5) is a Protein Coding gene. Diseases associated with DPYSL5 include Autoimmune Optic Neuritis and Thymoma. Among its related pathways are Guidance Cues and Growth Cone Motility and Axon guidance. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds. An important paralog of this gene is DPYS.

UniProtKB/Swiss-Prot Summary for DPYSL5 Gene

Gene Wiki entry for DPYSL5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPYSL5 Gene

Genomics for DPYSL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPYSL5 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
GH02J026847 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 622.2 +0.9 854 2.8 PRDM10 SIX5 ZNF143 ZIC2 ZSCAN4 POLR2A PATZ1 EZH2 ZNF341 ZNF561 DPYSL5 KHK MAPRE3 OTOF DRC1 UCN L13713-115
GH02J026846 Enhancer 1 ENCODE dbSUPER 600.7 -1.3 -1259 0.2 CREB1 CTCF PRDM10 ZNF143 PATZ1 REST RAD21 TRIM22 ZNF600 ZNF341 DPYSL5 piR-57460-366 CENPA
GH02J026968 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.5 +122.9 122865 5 CREB1 ZNF629 ZNF512 RFX1 IKZF1 BACH1 JUND LARP7 MTA2 ZNF143 MAPRE3 KHK MAPRE3-AS1 ENSG00000230286 AGBL5 AGBL5-AS1 DPYSL5 EMILIN1 ATRAID SLC5A6
GH02J026763 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -82.9 -82928 2.9 CREB1 GATAD2A PRDM10 TFE3 SOX13 ZNF692 POLR2A BACH1 LARP7 MTA2 CENPA SLC35F6 hsa-miR-5095-288 CAD ENSG00000234072 EIF2B4 ATRAID GTF3C2 TMEM214 KHK
GH02J026766 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -77.7 -77686 6.7 GATAD2A CTCF REST TFE3 LEF1 IKZF1 TARDBP JUND FOXA1 MTA2 CENPA KHK DPYSL5 MAPRE3 SNX17 ADGRF3 SLC35F6 NONHSAG027291.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPYSL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPYSL5

Top Transcription factor binding sites by QIAGEN in the DPYSL5 gene promoter:
  • AML1a
  • AP-4
  • GR
  • GR-alpha
  • HNF-4alpha1
  • Ik-2
  • Pax-4a
  • POU3F2
  • RFX1
  • STAT3

Genomic Locations for DPYSL5 Gene

Genomic Locations for DPYSL5 Gene
chr2:26,847,747-26,950,351
(GRCh38/hg38)
Size:
102,605 bases
Orientation:
Plus strand
chr2:27,070,615-27,173,219
(GRCh37/hg19)
Size:
102,605 bases
Orientation:
Plus strand

Genomic View for DPYSL5 Gene

Genes around DPYSL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPYSL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPYSL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPYSL5 Gene

Proteins for DPYSL5 Gene

  • Protein details for DPYSL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BPU6-DPYL5_HUMAN
    Recommended name:
    Dihydropyrimidinase-related protein 5
    Protein Accession:
    Q9BPU6
    Secondary Accessions:
    • Q8TCL6
    • Q9NQC4
    • Q9NRY9

    Protein attributes for DPYSL5 Gene

    Size:
    564 amino acids
    Molecular mass:
    61421 Da
    Quaternary structure:
    • Homotetramer, and heterotetramer with other DPYS-like proteins. Interacts with DPYSL2, DPYSL3 and DPYSL4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for DPYSL5 Gene

neXtProt entry for DPYSL5 Gene

Post-translational modifications for DPYSL5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DPYSL5 Gene

Domains & Families for DPYSL5 Gene

Gene Families for DPYSL5 Gene

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

Protein Domains for DPYSL5 Gene

Suggested Antigen Peptide Sequences for DPYSL5 Gene

GenScript: Design optimal peptide antigens:
  • UNC33-like phosphoprotein 6 (DPYL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BPU6

UniProtKB/Swiss-Prot:

DPYL5_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.
genes like me logo Genes that share domains with DPYSL5: view

Function for DPYSL5 Gene

Molecular function for DPYSL5 Gene

UniProtKB/Swiss-Prot Function:
May have a function in neuronal differentiation and/or axon growth.

Phenotypes From GWAS Catalog for DPYSL5 Gene

Gene Ontology (GO) - Molecular Function for DPYSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004157 NOT dihydropyrimidinase activity IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0008017 microtubule binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA --
genes like me logo Genes that share ontologies with DPYSL5: view
genes like me logo Genes that share phenotypes with DPYSL5: view

Animal Models for DPYSL5 Gene

MGI Knock Outs for DPYSL5:

Animal Model Products

CRISPR Products

miRNA for DPYSL5 Gene

miRTarBase miRNAs that target DPYSL5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPYSL5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPYSL5 Gene

Localization for DPYSL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPYSL5 Gene

Cytoplasm.

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 DPYSL5 gene
Compartment Confidence
cytosol 4
plasma membrane 2
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPYSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with DPYSL5: view

Pathways & Interactions for DPYSL5 Gene

PathCards logo

SuperPathways for DPYSL5 Gene

genes like me logo Genes that share pathways with DPYSL5: view

Pathways by source for DPYSL5 Gene

1 KEGG pathway for DPYSL5 Gene
2 Qiagen pathways for DPYSL5 Gene
  • Guidance Cues and Growth Cone Motility
  • Semaphorin Signaling

Gene Ontology (GO) - Biological Process for DPYSL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006208 NOT pyrimidine nucleobase catabolic process IBA 21873635
GO:0007165 signal transduction TAS 10851247
GO:0007399 nervous system development TAS 10851247
GO:0007411 axon guidance TAS,IEA --
genes like me logo Genes that share ontologies with DPYSL5: view

No data available for SIGNOR curated interactions for DPYSL5 Gene

Drugs & Compounds for DPYSL5 Gene

No Compound Related Data Available

Transcripts for DPYSL5 Gene

mRNA/cDNA for DPYSL5 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPYSL5

Alternative Splicing Database (ASD) splice patterns (SP) for DPYSL5 Gene

No ASD Table

Relevant External Links for DPYSL5 Gene

GeneLoc Exon Structure for
DPYSL5

Expression for DPYSL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPYSL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPYSL5 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x12.4), Brain - Substantia nigra (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x5.0), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for DPYSL5 Gene

This gene is overexpressed in Fetal Brain (28.8), Spinal cord (11.2), and Retina (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPYSL5 Gene



Protein tissue co-expression partners for DPYSL5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPYSL5

SOURCE GeneReport for Unigene cluster for DPYSL5 Gene:

Hs.299315

Evidence on tissue expression from TISSUES for DPYSL5 Gene

  • Nervous system(5)
  • Lung(4.2)
  • Eye(2.6)
  • Blood(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with DPYSL5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPYSL5 Gene

Orthologs for DPYSL5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DPYSL5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DPYSL5 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DPYSL5 31
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DPYSL5 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DPYSL5 30 31
  • 92.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DPYSL5 30 31
  • 92.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dpysl5 30
  • 91.08 (n)
Mouse
(Mus musculus)
Mammalia Dpysl5 30 17 31
  • 90.43 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DPYSL5 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DPYSL5 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dpysl5 30
  • 76.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii dpysl5b 31
  • 76 (a)
OneToMany
dpysl5a 30 31
  • 74.41 (n)
OneToMany
Dr.11133 30
Fruit Fly
(Drosophila melanogaster)
Insecta CRMP 31
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dhp-2 31
  • 47 (a)
ManyToMany
unc-33 31
  • 23 (a)
ManyToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C19107g 30
  • 45.92 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL1 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
ManyToMany
Species where no ortholog for DPYSL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for DPYSL5 Gene

ENSEMBL:
Gene Tree for DPYSL5 (if available)
TreeFam:
Gene Tree for DPYSL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPYSL5: view image

Paralogs for DPYSL5 Gene

Paralogs for DPYSL5 Gene

(5) SIMAP similar genes for DPYSL5 Gene using alignment to 6 proteins:

  • DPYL5_HUMAN
  • E7ESV0_HUMAN
  • E7EWB4_HUMAN
  • E9PHT0_HUMAN
  • Q53SW3_HUMAN
  • Q53T73_HUMAN

Pseudogenes.org Pseudogenes for DPYSL5 Gene

genes like me logo Genes that share paralogs with DPYSL5: view

Variants for DPYSL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPYSL5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
771694 Benign: not provided 26,934,742(+) G/A INTRON_VARIANT
775705 Benign: not provided 26,928,290(+) C/T SYNONYMOUS_VARIANT
rs1558337060 Uncertain Significance: Ritscher-Schinzel syndrome 1; Syndrome with a Dandy-Walker malformation as major feature 26,898,638(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DPYSL5 Gene

Structural Variations from Database of Genomic Variants (DGV) for DPYSL5 Gene

Variant ID Type Subtype PubMed ID
esv1009796 CNV insertion 20482838
esv1993351 CNV deletion 18987734
esv275060 CNV loss 21479260
esv3416312 CNV insertion 20981092
esv3423223 CNV duplication 20981092
nsv214236 CNV insertion 16902084

Variation tolerance for DPYSL5 Gene

Residual Variation Intolerance Score: 8.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPYSL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPYSL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPYSL5 Gene

Disorders for DPYSL5 Gene

MalaCards: The human disease database

(34) MalaCards diseases for DPYSL5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune optic neuritis
thymoma
  • thymus neoplasms
optic neuritis
ritscher-schinzel syndrome 1
  • rtsc1
ritscher-schinzel syndrome
  • craniocerebellocardiac dysplasia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DPYSL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPYSL5 Gene

Publications for DPYSL5 Gene

  1. Ulip6, a novel unc-33 and dihydropyrimidinase related protein highly expressed in developing rat brain. (PMID: 11034345) Horiuchi M … Betz H (FEBS letters 2000) 2 3 4 23
  2. Extensive expression of collapsin response mediator protein 5 (CRMP5) is a specific marker of high-grade lung neuroendocrine carcinoma. (PMID: 18769332) Meyronet D … Thomasset N (The American journal of surgical pathology 2008) 3 23
  3. High-titer collapsin response-mediating protein-associated (CRMP-5) paraneoplastic optic neuropathy and Vitritis as the only clinical manifestations in a patient with small cell lung carcinoma. (PMID: 18347453) Margolin E … Trobe JD (Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2008) 3 23
  4. Autoimmune myelopathy associated with collapsin response-mediator protein-5 immunoglobulin G. (PMID: 18306241) Keegan BM … Lennon VA (Annals of neurology 2008) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DPYSL5 Gene

  • Signalway Proteins for DPYSL5

Sources for DPYSL5 Gene