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

    Gene ID: 10613, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    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.

    Genomic

    1. NG_052910.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001100626.2NP_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:23310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. NM_001347856.2NP_001334785.1  erlin-1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL138921
      UniProtKB/TrEMBL
      B4DPN7
    3. NM_001347857.2NP_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:23310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    4. NM_001347858.2NP_001334787.1  erlin-1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL138921
    5. NM_001347859.2NP_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:23310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    6. NM_001347860.2NP_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:23310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    7. NM_001347861.2NP_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:23310
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    8. NM_006459.4NP_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:23310
      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)