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    CRMP1 collapsin response mediator protein 1 [ Homo sapiens (human) ]

    Gene ID: 1400, updated on 17-Jun-2019

    Summary

    Official Symbol
    CRMP1provided by HGNC
    Official Full Name
    collapsin response mediator protein 1provided by HGNC
    Primary source
    HGNC:HGNC:2365
    See related
    Ensembl:ENSG00000072832 MIM:602462
    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
    DRP1; DRP-1; CRMP-1; DPYSL1; ULIP-3
    Summary
    This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 34.7), endometrium (RPKM 8.3) and 8 other tissues See more
    Orthologs

    Genomic context

    See CRMP1 in Genome Data Viewer
    Location:
    4p16.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (5820764..5893086, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5822491..5894785, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene EvC ciliary complex subunit 1 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene microRNA 378d-1 Neighboring gene janus kinase and microtubule interacting protein 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • CRMPs in Sema3A signaling, organism-specific biosystem (from REACTOME)
      CRMPs in Sema3A signaling, organism-specific biosystemCRMPs are a small family of plexinA-interacting cytosolic phosphoproteins identified as mediators of Sema3A signaling and neuronal differentiation. After Sema3A activation Plexin-A bound CRMP's under...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT dihydropyrimidinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    filamin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT pyrimidine nucleobase catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dihydropyrimidinase-related protein 1
    Names
    dihydropyrimidinase-like 1
    unc-33-like phosphoprotein 3

    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_001014809.3NP_001014809.1  dihydropyrimidinase-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001014809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AC105915, AK094725, BC007898, DB498528
      Consensus CDS
      CCDS33950.1
      UniProtKB/Swiss-Prot
      Q14194
      UniProtKB/TrEMBL
      B3KT07, Q96I11, X5DNI1
      Related
      ENSP00000321606.7, ENST00000324989.11
      Conserved Domains (2) summary
      PRK09060
      Location:131581
      PRK09060; dihydroorotase; Validated
      cd01314
      Location:131580
      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_001288661.2NP_001275590.1  dihydropyrimidinase-related protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. It differs in the 5' UTR and initiates translation at an alternate downstream AUG resulting in a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC000252, BC007898, BC009987, DA184461
      Consensus CDS
      CCDS75102.1
      UniProtKB/Swiss-Prot
      Q14194
      UniProtKB/TrEMBL
      E9PD68, Q96I11
      Related
      ENSP00000425742.1, ENST00000512574.1
      Conserved Domains (2) summary
      PRK09060
      Location:15465
      PRK09060; dihydroorotase; Validated
      cd01314
      Location:15464
      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_001288662.1NP_001275591.1  dihydropyrimidinase-related protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001275591.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 1. It differs in the 5' UTR and initiates translation at an alternate downstream AUG resulting in a protein (isoform 4) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC105915, AK122754, BC000252, BC007898
      UniProtKB/Swiss-Prot
      Q14194
      UniProtKB/TrEMBL
      B3KV96, Q96I11
      Conserved Domains (2) summary
      PRK09060
      Location:11461
      PRK09060; dihydroorotase; Validated
      cd01314
      Location:11460
      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 ...
    4. NM_001313.5NP_001304.1  dihydropyrimidinase-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. It has a distinct 5' UTR and initiates translation at an alternate downstream AUG resulting in a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC007613, BC007898, DA064850
      Consensus CDS
      CCDS43207.1
      UniProtKB/Swiss-Prot
      Q14194
      UniProtKB/TrEMBL
      Q96I11
      Related
      ENSP00000380987.2, ENST00000397890.6
      Conserved Domains (2) summary
      PLN02795
      Location:5460
      PLN02795; allantoinase
      cd01314
      Location:17466
      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: 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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      5820764..5893086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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