ERLIN1 (ER lipid raft associated 1)

Gene

• Entrez ID: 10613
• Gene name: ER lipid raft associated 1
• Gene symbol: ERLIN1
• Synonyms: C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
• Chromosome: 10
• Chromosome location: 10q24.31
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs876657413	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs876661322	C>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025383	hsa-miR-34a-5p	Proteomics	21566225
MIRT025383	hsa-miR-34a-5p	CLASH	23622248
MIRT028682	hsa-miR-30a-5p	Proteomics	18668040
MIRT028682	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT039885	hsa-miR-615-3p	CLASH	23622248
MIRT047443	hsa-miR-10b-5p	CLASH	23622248
MIRT047667	hsa-miR-10a-5p	CLASH	23622248
MIRT047975	hsa-miR-30c-5p	CLASH	23622248
MIRT047975	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT051010	hsa-miR-17-5p	CLASH	23622248
MIRT440711	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT727745	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT727746	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727747	hsa-miR-30b-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19240031, 21343306, 22119785, 25416956, 30021884, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16835267, 19240031
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0015485	Function	Cholesterol binding	IDA	24217618
GO:0016021	Component	Integral component of membrane	IEA
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IDA	19240031
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032933	Process	SREBP signaling pathway	IBA	21873635
GO:0032933	Process	SREBP signaling pathway	IMP	24217618
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IMP	24217618
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IMP	24217618
GO:0055085	Process	Transmembrane transport	TAS

Other IDs

• MIM: 611604
• HGNC: 16947
• e!Ensembl: ENSG00000107566

Protein

• UniProt ID: O75477
• Protein name: Erlin-1 (Endoplasmic reticulum lipid raft-associated protein 1) (Protein KE04) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1) (SPFH domain-containing protein 1)
• Protein function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618). ; (Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01145	Band_7	26 → 216	SPFH domain / Band 7 family	Family

• Sequence:

  MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITT
  FRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFN
  KIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEA
  IRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKAVIEAEKIAQVAKIRFQQKVMEKET
  EKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFG
  SNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG

• Sequence length: 348