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Erlin1 ER lipid raft associated 1 [ Mus musculus (house mouse) ]

Gene ID: 226144, updated on 26-Sep-2022

Summary

Official Symbol
Erlin1provided by MGI
Official Full Name
ER lipid raft associated 1provided by MGI
Primary source
MGI:MGI:2387613
See related
Ensembl:ENSMUSG00000025198 AllianceGenome:MGI:2387613
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Keo4; Spfh1; 2810439N09Rik
Summary
Predicted to enable cholesterol binding activity. Predicted to be involved in SREBP signaling pathway; negative regulation of lipid biosynthetic process; and ubiquitin-dependent ERAD pathway. Predicted to act upstream of or within cholesterol metabolic process. Predicted to be located in endoplasmic reticulum. Predicted to be part of protein-containing complex. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 62. Orthologous to human ERLIN1 (ER lipid raft associated 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 17.3), limb E14.5 (RPKM 8.7) and 27 other tissues See more
Orthologs
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Genomic context

See Erlin1 in Genome Data Viewer
Location:
19; 19 C3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (44023382..44058580, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (44034943..44070164, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene carboxypeptidase N, polypeptide 1 Neighboring gene cytochrome P450, family 2, subfamily c, polypeptide 23 Neighboring gene uracil DNA glycosylase pseudogene Neighboring gene conserved helix-loop-helix ubiquitous kinase Neighboring gene CWF19-like 1, cell cycle control (S. pombe) Neighboring gene predicted gene, 24336

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol binding ISO
Inferred from Sequence Orthology
more info
 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
erlin-1
Names
SPFH domain family, member 1
SPFH domain-containing protein 1
endoplasmic reticulum lipid raft-associated protein 1
protein KE04 homolog
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.

mRNA and Protein(s)

  1. NM_001164359.1NP_001157831.1  erlin-1

    See identical proteins and their annotated locations for NP_001157831.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC124693, AK145990, BE990958, BM205368, CJ134812
    Consensus CDS
    CCDS29842.2
    UniProtKB/Swiss-Prot
    Q8CIH7, Q91X78
    UniProtKB/TrEMBL
    A0A0R4J1G5
    Related
    ENSMUSP00000071618.7, ENSMUST00000071698.13
    Conserved Domains (1) summary
    cd03406
    Location:18310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  2. NM_001164360.1NP_001157832.1  erlin-1

    See identical proteins and their annotated locations for NP_001157832.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AK145990, BE990958, BM205368, CJ074662
    Consensus CDS
    CCDS29842.2
    UniProtKB/Swiss-Prot
    Q8CIH7, Q91X78
    UniProtKB/TrEMBL
    A0A0R4J1G5
    Related
    ENSMUSP00000107659.4, ENSMUST00000112028.10
    Conserved Domains (1) summary
    cd03406
    Location:18310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  3. NM_145502.3NP_663477.3  erlin-1

    See identical proteins and their annotated locations for NP_663477.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AK133557, BE990958, CN702299
    Consensus CDS
    CCDS29842.2
    UniProtKB/Swiss-Prot
    Q8CIH7, Q91X78
    UniProtKB/TrEMBL
    A0A0R4J1G5
    Related
    ENSMUSP00000129684.2, ENSMUST00000170801.8
    Conserved Domains (1) summary
    cd03406
    Location:18310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    44023382..44058580 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006526998.5XP_006527061.1  erlin-1 isoform X1

    See identical proteins and their annotated locations for XP_006527061.1

    UniProtKB/Swiss-Prot
    Q8CIH7, Q91X78
    UniProtKB/TrEMBL
    A0A0R4J1G5
    Conserved Domains (1) summary
    cd03406
    Location:18310
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily