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    Erlin1 ER lipid raft associated 1 [ Mus musculus (house mouse) ]

    Gene ID: 226144, updated on 9-Dec-2024

    Summary

    Official Symbol
    Erlin1provided by MGI
    Official Full Name
    ER lipid raft associated 1provided by MGI
    Primary source
    MGI:MGI:2387613
    See related
    Ensembl:ENSMUSG00000025198 AllianceGenome:MGI:2387613
    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
    Keo4; Spfh1; 2810439N09Rik
    Summary
    Predicted to enable cholesterol binding activity. Predicted to be involved in ERAD pathway; SREBP signaling pathway; and negative regulation of lipid biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be part of protein-containing complex. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 62. Orthologous to human ERLIN1 (ER lipid raft associated 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 17.3), limb E14.5 (RPKM 8.7) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Erlin1 in Genome Data Viewer
    Location:
    19 C3; 19 36.7 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (44023382..44058580, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (44034943..44070164, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene carboxypeptidase N, polypeptide 1 Neighboring gene cytochrome P450, family 2, subfamily c, polypeptide 23 Neighboring gene STARR-seq mESC enhancer starr_46217 Neighboring gene uracil DNA glycosylase pseudogene Neighboring gene conserved helix-loop-helix ubiquitous kinase Neighboring gene STARR-positive B cell enhancer ABC_E11678 Neighboring gene STARR-seq mESC enhancer starr_46219 Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene predicted gene, 24336

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Gene trapped (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cholesterol binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in ERAD pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ERAD pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in SREBP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SREBP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SREBP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    erlin-1
    Names
    SPFH domain family, member 1
    SPFH domain-containing protein 1
    endoplasmic reticulum lipid raft-associated protein 1
    protein KE04 homolog
    stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1

    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_001164359.1NP_001157831.1  erlin-1

      See identical proteins and their annotated locations for NP_001157831.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC124693, AK145990, BE990958, BM205368, CJ134812
      Consensus CDS
      CCDS29842.2
      UniProtKB/Swiss-Prot
      A0A0R4J1G5, Q3UKI9, Q8CIH7, Q91X78
      Related
      ENSMUSP00000071618.7, ENSMUST00000071698.13
      Conserved Domains (1) summary
      cd03406
      Location:18310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. NM_001164360.1NP_001157832.1  erlin-1

      See identical proteins and their annotated locations for NP_001157832.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AK145990, BE990958, BM205368, CJ074662
      Consensus CDS
      CCDS29842.2
      UniProtKB/Swiss-Prot
      A0A0R4J1G5, Q3UKI9, Q8CIH7, Q91X78
      Related
      ENSMUSP00000107659.4, ENSMUST00000112028.10
      Conserved Domains (1) summary
      cd03406
      Location:18310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. NM_145502.3NP_663477.3  erlin-1

      See identical proteins and their annotated locations for NP_663477.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AK133557, BE990958, CN702299
      Consensus CDS
      CCDS29842.2
      UniProtKB/Swiss-Prot
      A0A0R4J1G5, Q3UKI9, Q8CIH7, Q91X78
      Related
      ENSMUSP00000129684.2, ENSMUST00000170801.8
      Conserved Domains (1) summary
      cd03406
      Location:18310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      44023382..44058580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526998.5XP_006527061.1  erlin-1 isoform X1

      See identical proteins and their annotated locations for XP_006527061.1

      UniProtKB/Swiss-Prot
      A0A0R4J1G5, Q3UKI9, Q8CIH7, Q91X78
      Conserved Domains (1) summary
      cd03406
      Location:18310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily