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

    Gene ID: 226144, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 17.3), limb E14.5 (RPKM 8.7) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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. Clustered hydrophobic amino acids in amphipathic helices mediate erlin1/2 complex assembly. Pednekar D, et al. Biochem Biophys Res Commun, 2011 Nov 11. PMID 22020079, Free PMC Article
    2. The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding. Wright FA, et al. J Biol Chem, 2018 Oct 5. PMID 30135210, Free PMC Article
    3. An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors. Pearce MM, et al. J Biol Chem, 2009 Apr 17. PMID 19240031, Free PMC Article
    4. Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis. Huber MD, et al. J Cell Biol, 2013 Nov 11. PMID 24217618, Free PMC Article
    5. Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome. Lyssand JS, et al. J Biol Chem, 2008 Jul 4. PMID 18468998, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The erlin2 threonine to isoleucine 65 substitution inhibits erlin1/erlin2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.
      Title: The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.
    2. 2 MDa erlin1/2 complex is composed of an assemblage of lower-order hetero-oligomers, probably heterotrimers, linked together by assembly domain hydrophobic residues.
      Title: Clustered hydrophobic amino acids in amphipathic helices mediate erlin1/2 complex assembly.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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_001164359.1 → NP_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:18 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. NM_001164360.1 → NP_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:18 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    3. NM_145502.3 → NP_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:18 → 310
      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_006526998.5 → XP_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:18 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91X78.2 GenPept UniProtKB/Swiss-Prot:Q91X78

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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