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

Gene ID: 10613, updated on 4-Nov-2018

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; Vega:OTTHUMG00000018900
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

Genomic context

See ERLIN1 in Genome Data Viewer
Location:
10q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (100150090..100186057, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101909847..101945814, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily C member 23, pseudogene Neighboring gene tropomyosin 4 pseudogene 1 Neighboring gene signal peptidase complex subunit 2 pseudogene 2 Neighboring gene conserved helix-loop-helix ubiquitous kinase Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene small nucleolar RNA, H/ACA box 12

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 62, autosomal recessive
MedGen: C4284588 OMIM: 615681 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ABC transporter disorders, organism-specific biosystem (from REACTOME)
    ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
    Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
    Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
SREBP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
ubiquitin-dependent ERAD pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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
    5081..40968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001100626.1NP_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, BP280488, BQ101058
    Consensus CDS
    CCDS7487.2
    UniProtKB/Swiss-Prot
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Related
    ENSP00000384900.3, OTTHUMP00000020275, ENST00000407654.7, OTTHUMT00000049841
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  2. NM_001347856.1NP_001334785.1  erlin-1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL138921
  3. NM_001347857.1NP_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
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  4. NM_001347858.1NP_001334787.1  erlin-1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL138921
  5. NM_001347859.1NP_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
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  6. NM_001347860.1NP_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
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  7. NM_001347861.1NP_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
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  8. NM_006459.3NP_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
    O75477
    UniProtKB/TrEMBL
    D3DR65
    Related
    ENSP00000410964.2, OTTHUMP00000020274, ENST00000421367.6, OTTHUMT00000049840
    Conserved Domains (1) summary
    cd03406
    Location:23310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RNA

  1. NR_144755.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921
  2. NR_144756.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921
  3. NR_144757.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921
  4. NR_144758.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921
  5. NR_144759.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921
  6. NR_144760.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138921

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    100150090..100186057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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