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    • Showing Current items.

    seip-1 Seipin [ Caenorhabditis elegans ]

    Gene ID: 259621, updated on 9-Dec-2024

    Summary

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    Official Symbol
    seip-1
    Official Full Name
    Seipin
    Primary source
    WormBase:WBGene00019808
    Locus tag
    CELE_R01B10.6
    See related
    AllianceGenome:WB:WBGene00019808
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to be involved in lipid droplet organization and lipid storage. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Used to study lipodystrophy. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 13; congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See seip-1 in Genome Data Viewer
    Location:
    chromosome: V
    Exon count:
    5
    Sequence:
    Chromosome: V; NC_003283.11 (6051377..6053238, complement)

    Chromosome V - NC_003283.11Genomic Context describing neighboring genes Neighboring gene Cystatin cpi-2 Neighboring gene Solute carrier family 3 member 2 N-terminal domain-containing protein Neighboring gene Post-GPI attachment to proteins factor 3 Neighboring gene JNK1/MAPK8-associated membrane protein homolog Neighboring gene ncRNA Neighboring gene Serpentine Receptor, class D (Delta)

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003283.11

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy. Qannan A, et al. Hum Mol Genet, 2023 May 18. PMID 36715159, Free PMC Article
    2. Loss of the seipin gene perturbs eggshell formation in Caenorhabditiselegans. Bai X, et al. Development, 2020 Oct 16. PMID 32820022, Free PMC Article
    3. Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans. Bai X, et al. Dis Model Mech, 2024 Jun 1. PMID 38454882, Free PMC Article
    4. The autophagy protein ATG9A enables lipid mobilization from lipid droplets. Mailler E, et al. Nat Commun, 2021 Nov 19. PMID 34799570, Free PMC Article
    5. Nuclear lipid droplets and nuclear damage in Caenorhabditis elegans. Mosquera JV, et al. PLoS Genet, 2021 Jun. PMID 34133414, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear lipid droplets and nuclear damage in Caenorhabditis elegans.
      Title: Nuclear lipid droplets and nuclear damage in Caenorhabditis elegans.
    2. Loss of the seipin gene perturbs eggshell formation in Caenorhabditis elegans.
      Title: Loss of the seipin gene perturbs eggshell formation in Caenorhabditiselegans.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Process Evidence Code Pubs
    involved_in lipid droplet formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid droplet organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid storage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Seipin
    NP_741547.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003283.11 Reference assembly

      Range
      6051377..6053238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_171465.5 → NP_741547.1  Seipin [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_741547.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8MXG1
      Conserved Domains (1) summary
      pfam06775
      Location:16 → 216
      Seipin; Putative adipose-regulatory protein (Seipin)
    Nucleotide Protein
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