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    ERLIN1 ER lipid raft associated 1 [ Homo sapiens (human) ]

    Gene ID: 10613, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ERLIN1provided by HGNC
    Official Full Name
    ER lipid raft associated 1provided by HGNC
    Primary source
    HGNC:HGNC:16947
    See related
    Ensembl:ENSG00000107566 MIM:611604; AllianceGenome:HGNC:16947
    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
    KE04; KEO4; SPFH1; SPG62; Erlin-1; C10orf69
    Summary
    The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.9), liver (RPKM 24.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERLIN1 in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100150094..100186029, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101034336..101070271, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101909851..101945786, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily C member 23, pseudogene Neighboring gene TPM4 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:101907932-101909131 Neighboring gene signal peptidase complex subunit 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3883 Neighboring gene component of inhibitor of nuclear factor kappa B kinase complex Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3884 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:101990400-101990662 Neighboring gene CHUK divergent transcript Neighboring gene CWF19 like cell cycle control factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The Host Factor Erlin-1 is Required for Efficient Hepatitis C Virus Infection. Whitten-Bauer C, et al. Cells, 2019 Dec 2. PMID 31810281, Free PMC Article
    2. Identification and characterization of a novel gene KE04 differentially expressed by activated human dendritic cells. Li N, et al. Biochem Biophys Res Commun, 2000 Dec 20. PMID 11118313
    3. The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy. Hua F, et al. Biochem Biophys Res Commun, 2024 Oct 30. PMID 39018973
    4. Role of ERLINs in the Control of Cell Fate through Lipid Rafts. Manganelli V, et al. Cells, 2021 Sep 13. PMID 34572057, Free PMC Article
    5. The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD. Rendel MD, et al. Med, 2024 Aug 9. PMID 38776916

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.
      Title: The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.
    2. The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.
      Title: The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.
    3. Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.
      Title: Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.
    4. Disruption of the ERLIN-TM6SF2-APOB complex destabilizes APOB and contributes to non-alcoholic fatty liver disease.
      Title: Disruption of the ERLIN-TM6SF2-APOB complex destabilizes APOB and contributes to non-alcoholic fatty liver disease.
    5. erlin-1 protein is required early in the infection, downstream of cell entry and primary translation, specifically to initiate RNA replication, and later in the infection to support infectious virus production. This study identifies erlin-1 protein as an important cellular factor regulating HCV infection.
      Title: The Host Factor Erlin-1 is Required for Efficient Hepatitis C Virus Infection.
    6. Erlin-1 and the related erlin-2 were found to selectively bind cholesterol. Knockdown of the proteins by RNAi in cultured cells resulted in high levels of cholesterol and fatty acid biosynthesis in the presence of cholesterol sufficiency.
      Title: Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
    7. Here we show that the multimeric ER proteins erlins-1 and -2 are additional sterol regulatory element binding protein regulators.
      Title: Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
    8. Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation.
      Title: The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
    9. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    10. This protein has been found differentially expressed in thalami from patients with schizophrenia.
      Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 62
    MedGen: C4284588 OMIM: 615681 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in SREBP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SREBP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane raft NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    erlin-1
    Names
    Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
    SPFH domain family, member 1
    SPFH domain-containing protein 1
    endoplasmic reticulum lipid raft-associated protein 1
    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.

    Genomic

    1. NG_052910.1 RefSeqGene

      Range
      5029..40964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001100626.2 → NP_001094096.1  erlin-1 isoform a

      See identical proteins and their annotated locations for NP_001094096.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AF064093, AL138921, BQ101058
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Related
      ENSP00000384900.3, ENST00000407654.7
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. NM_001347856.2 → NP_001334785.1  erlin-1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL138921
      UniProtKB/TrEMBL
      B4DPN7

    3. NM_001347857.2 → NP_001334786.1  erlin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, 4, 5, and 6, encodes isoform a.
      Source sequence(s)
      AL138921
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    4. NM_001347858.2 → NP_001334787.1  erlin-1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL138921

    5. NM_001347859.2 → NP_001334788.1  erlin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 2, 3, 5, and 6, encodes isoform a.
      Source sequence(s)
      AL138921
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    6. NM_001347860.2 → NP_001334789.1  erlin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 2, 3, 4, and 6, encodes isoform a.
      Source sequence(s)
      AL138921
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    7. NM_001347861.2 → NP_001334790.1  erlin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1-5, encodes isoform a.
      Source sequence(s)
      AL138921
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    8. NM_006459.4 → NP_006450.2  erlin-1 isoform a

      See identical proteins and their annotated locations for NP_006450.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AL138921, BC031791, BQ101058, BU192550
      Consensus CDS
      CCDS7487.2
      UniProtKB/Swiss-Prot
      B0QZ42, D3DR65, O75477, Q53HV0
      UniProtKB/TrEMBL
      B2RDK6
      Related
      ENSP00000410964.2, ENST00000421367.7
      Conserved Domains (1) summary
      cd03406
      Location:23 → 310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RNA

    1. NR_144755.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    2. NR_144756.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    3. NR_144757.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    4. NR_144758.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    5. NR_144759.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    6. NR_144760.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138921

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      100150094..100186029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101034336..101070271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75477.2 GenPept UniProtKB/Swiss-Prot:O75477

    Gene LinkOut

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

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