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    Clvs1 clavesin 1 [ Mus musculus (house mouse) ]

    Gene ID: 74438, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Clvs1provided by MGI
    Official Full Name
    clavesin 1provided by MGI
    Primary source
    MGI:MGI:1921688
    See related
    Ensembl:ENSMUSG00000041216 AllianceGenome:MGI:1921688
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Clvl1; Rlbp1l1; 4933402J24Rik
    Summary
    Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity. Predicted to be involved in lysosome organization. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and membrane. Predicted to be active in clathrin-coated vesicle; endosome; and trans-Golgi network. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and spinal cord. Orthologous to human CLVS1 (clavesin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cerebellum adult (RPKM 9.8), CNS E14 (RPKM 5.9) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 A1; 4 4.07 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (9144753..9451691)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (9144745..9451691)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54233 Neighboring gene predicted gene, 50597 Neighboring gene predicted gene, 34288 Neighboring gene STARR-seq mESC enhancer starr_09535 Neighboring gene predicted gene, 23423 Neighboring gene STARR-seq mESC enhancer starr_09536 Neighboring gene STARR-seq mESC enhancer starr_09537 Neighboring gene predicted gene 11816 Neighboring gene predicted gene, 57727 Neighboring gene aspartate-beta-hydroxylase Neighboring gene STARR-seq mESC enhancer starr_09538 Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 2 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr4:9557799-9558100 Neighboring gene STARR-positive B cell enhancer ABC_E2685 Neighboring gene STARR-seq mESC enhancer starr_09540 Neighboring gene predicted gene, 24152

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Wang KS, et al. Mamm Genome, 2005 May. PMID 16104381
    2. Cdc42 activation by endothelin regulates neural crest cell migration in the cardiac outflow tract. Fritz KR, et al. Dev Dyn, 2019 Sep. PMID 31219639
    3. Single-cell gene profiling defines differential progenitor subclasses in mammalian neurogenesis. Kawaguchi A, et al. Development, 2008 Sep. PMID 18725516
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in lysosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    clavesin-1
    Names
    retinaldehyde-binding protein 1-like 1

    NCBI Reference Sequences (RefSeq)

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    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_001355183.1 → NP_001342112.1  clavesin-1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK034888, AK084350, AL844180, BC100556
      Consensus CDS
      CCDS17957.1
      UniProtKB/Swiss-Prot
      Q3UWV3, Q497H3, Q8BJE8, Q8BXX0, Q9D4C9
      Conserved Domains (2) summary
      smart01100
      Location:51 → 97
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:125 → 274
      CRAL_TRIO; CRAL/TRIO domain

    2. NM_028940.2 → NP_083216.1  clavesin-1

      See identical proteins and their annotated locations for NP_083216.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK083810, AK084350, BC100556
      Consensus CDS
      CCDS17957.1
      UniProtKB/Swiss-Prot
      Q3UWV3, Q497H3, Q8BJE8, Q8BXX0, Q9D4C9
      Related
      ENSMUSP00000035649.8, ENSMUST00000038841.14
      Conserved Domains (2) summary
      smart01100
      Location:51 → 97
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:125 → 274
      CRAL_TRIO; CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      9144753..9451691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011250126.4 → XP_011248428.1  clavesin-1 isoform X2

      Conserved Domains (1) summary
      cd00170
      Location:100 → 220
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    2. XM_030253852.2 → XP_030109712.1  clavesin-1 isoform X5

      Conserved Domains (1) summary
      smart01100
      Location:51 → 97
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    3. XM_006538321.4 → XP_006538384.1  clavesin-1 isoform X3

      Conserved Domains (1) summary
      cd00170
      Location:67 → 187
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    4. XM_030253851.2 → XP_030109711.1  clavesin-1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UWV3, Q497H3, Q8BJE8, Q8BXX0, Q9D4C9
      Conserved Domains (2) summary
      smart01100
      Location:51 → 97
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:125 → 274
      CRAL_TRIO; CRAL/TRIO domain

    5. XM_006538322.5 → XP_006538385.1  clavesin-1 isoform X4

      Conserved Domains (1) summary
      cd00170
      Location:4 → 124
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D4C9.1 GenPept UniProtKB/Swiss-Prot:Q9D4C9

    Gene LinkOut

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