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    DPYSL5 dihydropyrimidinase like 5 [ Homo sapiens (human) ]

    Gene ID: 56896, updated on 10-Dec-2024

    Summary

    Official Symbol
    DPYSL5provided by HGNC
    Official Full Name
    dihydropyrimidinase like 5provided by HGNC
    Primary source
    HGNC:HGNC:20637
    See related
    Ensembl:ENSG00000157851 MIM:608383; AllianceGenome:HGNC:20637
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CV2; CRAM; CRMP5; RTSC4; Ulip6; CRMP-5
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 10.7), testis (RPKM 2.0) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DPYSL5 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (26847995..26950351)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (26889614..26992026)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27070863..27173219)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15479 Neighboring gene MPRA-validated peak3629 silencer Neighboring gene centromere protein A Neighboring gene CDKN2A interacting protein N-terminal like pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15480 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:27135238-27135875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27136064-27137020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27157221-27157720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27172437-27172937 Neighboring gene uncharacterized LOC124905979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15481 Neighboring gene microtubule associated protein RP/EB family member 3 Neighboring gene MAPRE3 antisense RNA 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Ritscher-Schinzel syndrome 4
    MedGen: C5561939 OMIM: 619435 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of dihydropyrimidinase-like 5 (DPYSL5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45383

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables dihydropyrimidinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT involved_in pyrimidine nucleobase catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dihydropyrimidinase-related protein 5
    Names
    CRMP3-associated molecule
    DRP-5
    ULIP-6
    UNC33-like phosphoprotein 6
    collapsin response mediator protein-5

    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_001253723.2NP_001240652.1  dihydropyrimidinase-related protein 5

      See identical proteins and their annotated locations for NP_001240652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC011740, AC013472, AW139156, BC002874
      Consensus CDS
      CCDS1730.1
      UniProtKB/Swiss-Prot
      Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9
      UniProtKB/TrEMBL
      Q53SW3
      Related
      ENSP00000385549.1, ENST00000401478.5
      Conserved Domains (1) summary
      cd01314
      Location:10459
      D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
    2. NM_001253724.2NP_001240653.1  dihydropyrimidinase-related protein 5

      See identical proteins and their annotated locations for NP_001240653.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC011740, AC013472, AL713706, AW139156, DA410946
      Consensus CDS
      CCDS1730.1
      UniProtKB/Swiss-Prot
      Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9
      UniProtKB/TrEMBL
      Q53SW3
      Related
      ENSP00000481305.1, ENST00000614712.4
      Conserved Domains (1) summary
      cd01314
      Location:10459
      D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
    3. NM_020134.4NP_064519.2  dihydropyrimidinase-related protein 5

      See identical proteins and their annotated locations for NP_064519.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC013472, AF264015, AW139156
      Consensus CDS
      CCDS1730.1
      UniProtKB/Swiss-Prot
      Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9
      UniProtKB/TrEMBL
      Q53SW3
      Related
      ENSP00000288699.6, ENST00000288699.11
      Conserved Domains (1) summary
      cd01314
      Location:10459
      D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      26847995..26950351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453007.2XP_024308775.1  dihydropyrimidinase-related protein 5 isoform X1

      UniProtKB/Swiss-Prot
      Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9
      UniProtKB/TrEMBL
      Q53SW3
      Conserved Domains (1) summary
      cd01314
      Location:10459
      D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      26889614..26992026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343051.1XP_054199026.1  dihydropyrimidinase-related protein 5 isoform X1

      UniProtKB/Swiss-Prot
      Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9
      UniProtKB/TrEMBL
      Q53SW3