UniProtKB - O75477 (ERLN1_HUMAN)
Protein
Erlin-1
Gene
ERLIN1
Organism
Homo sapiens (Human)
Status
Functioni
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).2 Publications
(Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production.1 Publication
GO - Molecular functioni
- cholesterol binding Source: UniProtKB
- ubiquitin protein ligase binding Source: InterPro
GO - Biological processi
- cholesterol metabolic process Source: UniProtKB-KW
- negative regulation of cholesterol biosynthetic process Source: UniProtKB
- negative regulation of fatty acid biosynthetic process Source: UniProtKB
- SREBP signaling pathway Source: UniProtKB
- transmembrane transport Source: Reactome
- ubiquitin-dependent ERAD pathway Source: UniProtKB
Keywordsi
Biological process | Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | O75477 |
Reactomei | R-HSA-382556, ABC-family proteins mediated transport R-HSA-5678895, Defective CFTR causes cystic fibrosis |
Protein family/group databases
TCDBi | 1.P.1.1.1, the polyoma virus sv40 er penetration channel (vpec) family |
Names & Taxonomyi
Protein namesi | Recommended name: Erlin-11 PublicationAlternative name(s): Endoplasmic reticulum lipid raft-associated protein 1 Protein KE041 Publication Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1 Short name: SPFH domain-containing protein 1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16947, ERLIN1 |
MIMi | 611604, gene |
neXtProti | NX_O75477 |
VEuPathDBi | HostDB:ENSG00000107566.13 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 3 Publications; Single-pass type II membrane protein 3 Publications
Note: Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- protein-containing complex Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicCurated | 7 | |
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 348 | LumenalCuratedAdd BLAST | 320 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Spastic paraplegia 62, autosomal recessive (SPG62)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077847 | 50 | G → V in SPG62. 1 PublicationCorresponds to variant dbSNP:rs876661322EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 10613 |
MalaCardsi | ERLIN1 |
MIMi | 615681, phenotype |
OpenTargetsi | ENSG00000107566 |
Orphaneti | 401785, Autosomal recessive spastic paraplegia type 62 |
PharmGKBi | PA162385299 |
Miscellaneous databases
Pharosi | O75477, Tbio |
Genetic variation databases
BioMutai | ERLIN1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000002784 | 1 – 348 | Erlin-1Add BLAST | 348 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 108 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 269 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, GlycoproteinProteomic databases
EPDi | O75477 |
jPOSTi | O75477 |
MassIVEi | O75477 |
MaxQBi | O75477 |
PaxDbi | O75477 |
PeptideAtlasi | O75477 |
PRIDEi | O75477 |
ProteomicsDBi | 50039 |
PTM databases
GlyConnecti | 1221, 10 N-Linked glycans (1 site) |
GlyGeni | O75477, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | O75477 |
PhosphoSitePlusi | O75477 |
SwissPalmi | O75477 |
Expressioni
Tissue specificityi
Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine.1 Publication
Gene expression databases
Bgeei | ENSG00000107566, Expressed in endometrium and 245 other tissues |
ExpressionAtlasi | O75477, baseline and differential |
Genevisiblei | O75477, HS |
Organism-specific databases
HPAi | ENSG00000107566, Tissue enhanced (liver) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsO75477
GO - Molecular functioni
- ubiquitin protein ligase binding Source: InterPro
Protein-protein interaction databases
BioGRIDi | 115859, 101 interactors |
CORUMi | O75477 |
IntActi | O75477, 74 interactors |
MINTi | O75477 |
STRINGi | 9606.ENSP00000410964 |
Miscellaneous databases
RNActi | O75477, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the band 7/mec-2 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2962, Eukaryota |
GeneTreei | ENSGT00390000014666 |
InParanoidi | O75477 |
OMAi | TDQIDEN |
OrthoDBi | 930534at2759 |
PhylomeDBi | O75477 |
TreeFami | TF313059 |
Family and domain databases
CDDi | cd03406, SPFH_like_u3, 1 hit |
InterProi | View protein in InterPro IPR001107, Band_7 IPR036013, Band_7/SPFH_dom_sf IPR033294, Erlin1/2 |
PANTHERi | PTHR15351, PTHR15351, 1 hit |
Pfami | View protein in Pfam PF01145, Band_7, 1 hit |
SMARTi | View protein in SMART SM00244, PHB, 1 hit |
SUPFAMi | SSF117892, SSF117892, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O75477-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNMTQARVLV AAVVGLVAVL LYASIHKIEE GHLAVYYRGG ALLTSPSGPG
60 70 80 90 100
YHIMLPFITT FRSVQTTLQT DEVKNVPCGT SGGVMIYIDR IEVVNMLAPY
110 120 130 140 150
AVFDIVRNYT ADYDKTLIFN KIHHELNQFC SAHTLQEVYI ELFDQIDENL
160 170 180 190 200
KQALQKDLNL MAPGLTIQAV RVTKPKIPEA IRRNFELMEA EKTKLLIAAQ
210 220 230 240 250
KQKVVEKEAE TERKKAVIEA EKIAQVAKIR FQQKVMEKET EKRISEIEDA
260 270 280 290 300
AFLAREKAKA DAEYYAAHKY ATSNKHKLTP EYLELKKYQA IASNSKIYFG
310 320 330 340
SNIPNMFVDS SCALKYSDIR TGRESSLPSK EALEPSGENV IQNKESTG
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB0QZ43 | B0QZ43_HUMAN | Erlin-1 | ERLIN1 | 275 | Annotation score: |
Sequence cautioni
The sequence AAC26658 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH31791 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD96200 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 259 | K → R in BAD96200 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077847 | 50 | G → V in SPG62. 1 PublicationCorresponds to variant dbSNP:rs876661322EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF064093 mRNA Translation: AAC26658.1 Different initiation. AK222480 mRNA Translation: BAD96200.1 Different initiation. AL138921 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49846.1 CH471066 Genomic DNA Translation: EAW49847.1 BC031791 mRNA Translation: AAH31791.1 Different initiation. |
CCDSi | CCDS7487.2 |
RefSeqi | NP_001094096.1, NM_001100626.1 NP_001334786.1, NM_001347857.1 NP_001334788.1, NM_001347859.1 NP_001334789.1, NM_001347860.1 NP_001334790.1, NM_001347861.1 NP_006450.2, NM_006459.3 |
Genome annotation databases
Ensembli | ENST00000407654; ENSP00000384900; ENSG00000107566 ENST00000421367; ENSP00000410964; ENSG00000107566 |
GeneIDi | 10613 |
KEGGi | hsa:10613 |
UCSCi | uc001kqn.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF064093 mRNA Translation: AAC26658.1 Different initiation. AK222480 mRNA Translation: BAD96200.1 Different initiation. AL138921 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49846.1 CH471066 Genomic DNA Translation: EAW49847.1 BC031791 mRNA Translation: AAH31791.1 Different initiation. |
CCDSi | CCDS7487.2 |
RefSeqi | NP_001094096.1, NM_001100626.1 NP_001334786.1, NM_001347857.1 NP_001334788.1, NM_001347859.1 NP_001334789.1, NM_001347860.1 NP_001334790.1, NM_001347861.1 NP_006450.2, NM_006459.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115859, 101 interactors |
CORUMi | O75477 |
IntActi | O75477, 74 interactors |
MINTi | O75477 |
STRINGi | 9606.ENSP00000410964 |
Protein family/group databases
TCDBi | 1.P.1.1.1, the polyoma virus sv40 er penetration channel (vpec) family |
PTM databases
GlyConnecti | 1221, 10 N-Linked glycans (1 site) |
GlyGeni | O75477, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | O75477 |
PhosphoSitePlusi | O75477 |
SwissPalmi | O75477 |
Genetic variation databases
BioMutai | ERLIN1 |
Proteomic databases
EPDi | O75477 |
jPOSTi | O75477 |
MassIVEi | O75477 |
MaxQBi | O75477 |
PaxDbi | O75477 |
PeptideAtlasi | O75477 |
PRIDEi | O75477 |
ProteomicsDBi | 50039 |
Protocols and materials databases
Antibodypediai | 2279, 197 antibodies |
DNASUi | 10613 |
Genome annotation databases
Ensembli | ENST00000407654; ENSP00000384900; ENSG00000107566 ENST00000421367; ENSP00000410964; ENSG00000107566 |
GeneIDi | 10613 |
KEGGi | hsa:10613 |
UCSCi | uc001kqn.5, human |
Organism-specific databases
CTDi | 10613 |
DisGeNETi | 10613 |
GeneCardsi | ERLIN1 |
HGNCi | HGNC:16947, ERLIN1 |
HPAi | ENSG00000107566, Tissue enhanced (liver) |
MalaCardsi | ERLIN1 |
MIMi | 611604, gene 615681, phenotype |
neXtProti | NX_O75477 |
OpenTargetsi | ENSG00000107566 |
Orphaneti | 401785, Autosomal recessive spastic paraplegia type 62 |
PharmGKBi | PA162385299 |
VEuPathDBi | HostDB:ENSG00000107566.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2962, Eukaryota |
GeneTreei | ENSGT00390000014666 |
InParanoidi | O75477 |
OMAi | TDQIDEN |
OrthoDBi | 930534at2759 |
PhylomeDBi | O75477 |
TreeFami | TF313059 |
Enzyme and pathway databases
PathwayCommonsi | O75477 |
Reactomei | R-HSA-382556, ABC-family proteins mediated transport R-HSA-5678895, Defective CFTR causes cystic fibrosis |
Miscellaneous databases
BioGRID-ORCSi | 10613, 12 hits in 874 CRISPR screens |
ChiTaRSi | ERLIN1, human |
GeneWikii | ERLIN1 |
GenomeRNAii | 10613 |
Pharosi | O75477, Tbio |
PROi | PR:O75477 |
RNActi | O75477, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107566, Expressed in endometrium and 245 other tissues |
ExpressionAtlasi | O75477, baseline and differential |
Genevisiblei | O75477, HS |
Family and domain databases
CDDi | cd03406, SPFH_like_u3, 1 hit |
InterProi | View protein in InterPro IPR001107, Band_7 IPR036013, Band_7/SPFH_dom_sf IPR033294, Erlin1/2 |
PANTHERi | PTHR15351, PTHR15351, 1 hit |
Pfami | View protein in Pfam PF01145, Band_7, 1 hit |
SMARTi | View protein in SMART SM00244, PHB, 1 hit |
SUPFAMi | SSF117892, SSF117892, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ERLN1_HUMAN | |
Accessioni | O75477Primary (citable) accession number: O75477 Secondary accession number(s): B0QZ42, D3DR65, Q53HV0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2005 |
Last sequence update: | May 8, 2019 | |
Last modified: | February 10, 2021 | |
This is version 161 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families