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

Gene ID: 10613, updated on 10-Dec-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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. 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
  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. 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
  5. 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

See all (136) 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
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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

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