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Details on Person UniProt:O94905 ERLIN2

Class:Id	ReferenceGeneProduct:87246
_chainChangeLog	chain:1-339 added on Fri February 6 2015
_displayName	UniProt:O94905 ERLIN2
_timestamp	2024-11-03 20:18:59
chain	chain:1-339
checksum	3CF322548FD58DB0
comment	FUNCTION Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).SUBUNIT Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170 (PubMed:19240031, PubMed:21610068). Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Interacts with SCAP, INSIG1, SREBF1 and SREBF2 under cholesterol sufficiency conditions; indicative for an association with the SCAP-SREBP-INSIG complex (PubMed:24217618). Probably part of an AMFR/gp78 and INSIG1-containing ubiquitin ligase complex involved in ERAD of HMGCR. Interacts with TMUB1; TMUB1 bridges the association with AMFR. Interacts with SYVN1 and RNF139 (PubMed:21343306). Interacts with TMEM259 (By similarity). Interacts with TMEM41B (PubMed:30352685).INTERACTION Associated with lipid raft-like domains of the endoplasmic reticulum membrane.ALTERNATIVE PRODUCTS Ubiquitous.PTM Deubiquitinated by USP25; leading to stabilization.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the band 7/mec-2 family.SEQUENCE CAUTION Extended N-terminus.
description	recommendedName: Erlin-2 alternativeName: Endoplasmic reticulum lipid raft-associated protein 2 alternativeName: Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2 shortName: SPFH domain-containing protein 2
geneName	ERLIN2 C8orf2 SPFH2 UNQ2441/PRO5003/PRO9924
identifier	O94905
isSequenceChanged	FALSE
keyword	Acetylation Alternative splicing Cholesterol metabolism Direct protein sequencing Disease variant Endoplasmic reticulum Glycoprotein Hereditary spastic paraplegia Lipid metabolism Membrane Neurodegeneration Proteomics identification Reference proteome Signal-anchor Steroid metabolism Sterol metabolism Transmembrane Transmembrane helix
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	ERLIN2
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8998868] ENSEMBL:ENSG00000147475 ERLIN2 [Homo sapiens]
secondaryIdentifier	ERLN2_HUMAN A0JLQ1 A8K5S9 B4DM38 D3DSW0 Q6NW21 Q86VS6 Q86W49
sequenceLength	339
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:145369] UniProt:O94905-2 ERLIN2 [Homo sapiens] [ReferenceIsoform:228473] UniProt:O94905-3 ERLIN2 [Homo sapiens] [ReferenceIsoform:402070] UniProt:O94905-1 ERLIN2 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:8853122] EML4(1-186)insVSLKRRIELTVEYPWRCGALSPTSNCRTG-p-8Y-FGFR1(1-822) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:8853148] EML4(1-186)insVSLKRRIELTVEYPWRCGALSPTSNCRTG-FGFR1(1-822) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:8866520] ERLIN2 [endoplasmic reticulum membrane] [Homo sapiens]
(referenceSequence)	[FragmentReplacedModification:9024315] Replacement of residues 186 to 186 by MVSLKRRIELTVEYPWRCGALSPTSNCRTG
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No pathways have been reviewed or authored by UniProt:O94905 ERLIN2 (87246)