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

Gene ID: 10613, updated on 5-May-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
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Genomic context

See ERLIN1 in Genome Data Viewer
Location:
10q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100150094..100186029, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101034336..101070271, complement)
105.20220307 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)

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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_001100626.2NP_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_2023_10

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)