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
Caution
This sequence contains two in frame methionine codon situated in atypical consensus Kozak sequence in the 5'terminus. By homolog comparison, the second ATG was supposed to be the start codon according to PubMed:11118313.Curated
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
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 penitration channel (vpec) family |
Names & Taxonomyi
Protein namesi | Recommended name: Erlin-1Alternative name(s): Endoplasmic reticulum lipid raft-associated protein 1 Protein KE04 Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1 Short name: SPFH domain-containing protein 1 |
Gene namesi | Name:ERLIN1 Synonyms:C10orf69, KE04, KEO4, SPFH1 |
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
EuPathDBi | HostDB:ENSG00000107566.13 |
HGNCi | HGNC:16947 ERLIN1 |
MIMi | 611604 gene |
neXtProti | NX_O75477 |
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 – 5 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 6 – 26 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 27 – 346 | LumenalSequence analysisAdd 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 mutations 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.
See also OMIM:615681Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077847 | 48 | G → V in SPG62. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 10613 |
MalaCardsi | ERLIN1 |
MIMi | 615681 phenotype |
Orphaneti | 401785 Autosomal recessive spastic paraplegia type 62 |
PharmGKBi | PA162385299 |
Polymorphism and mutation databases
BioMutai | ERLIN1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000002784 | 1 – 346 | Erlin-1Add BLAST | 346 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 106 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 267 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, GlycoproteinProteomic databases
EPDi | O75477 |
jPOSTi | O75477 |
MaxQBi | O75477 |
PaxDbi | O75477 |
PeptideAtlasi | O75477 |
PRIDEi | O75477 |
ProteomicsDBi | 50039 |
PTM databases
GlyConnecti | 1221 |
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 236 organ(s), highest expression level in endometrium |
ExpressionAtlasi | O75477 baseline and differential |
Genevisiblei | O75477 HS |
Organism-specific databases
HPAi | HPA011252 |
Interactioni
Subunit structurei
Forms a heteromeric complex with ERLIN2 (PubMed:19240031). In complex with ERLIN2, interacts with RNF170 (PubMed:21610068). Interacts with AMFR and SYVN1 (PubMed:21343306).3 Publications
Binary interactionsi
GO - Molecular functioni
- ubiquitin protein ligase binding Source: InterPro
Protein-protein interaction databases
BioGridi | 115859, 62 interactors |
CORUMi | O75477 |
IntActi | O75477, 51 interactors |
MINTi | O75477 |
STRINGi | 9606.ENSP00000384900 |
Family & Domainsi
Sequence similaritiesi
Belongs to the band 7/mec-2 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2962 Eukaryota ENOG410XQSH LUCA |
HOGENOMi | HOG000251613 |
HOVERGENi | HBG050934 |
InParanoidi | O75477 |
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
MTQARVLVAA VVGLVAVLLY ASIHKIEEGH LAVYYRGGAL LTSPSGPGYH
60 70 80 90 100
IMLPFITTFR SVQTTLQTDE VKNVPCGTSG GVMIYIDRIE VVNMLAPYAV
110 120 130 140 150
FDIVRNYTAD YDKTLIFNKI HHELNQFCSA HTLQEVYIEL FDQIDENLKQ
160 170 180 190 200
ALQKDLNLMA PGLTIQAVRV TKPKIPEAIR RNFELMEAEK TKLLIAAQKQ
210 220 230 240 250
KVVEKEAETE RKKAVIEAEK IAQVAKIRFQ QKVMEKETEK RISEIEDAAF
260 270 280 290 300
LAREKAKADA EYYAAHKYAT SNKHKLTPEY LELKKYQAIA SNSKIYFGSN
310 320 330 340
IPNMFVDSSC ALKYSDIRTG RESSLPSKEA LEPSGENVIQ NKESTG
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 EAW49846 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 257 | K → R in BAD96200 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077847 | 48 | G → V in SPG62. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF064093 mRNA Translation: AAC26658.1 AK222480 mRNA Translation: BAD96200.1 AL138921 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49846.1 Different initiation. BC031791 mRNA Translation: AAH31791.1 |
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 |
UniGenei | Hs.150087 |
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 AK222480 mRNA Translation: BAD96200.1 AL138921 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49846.1 Different initiation. BC031791 mRNA Translation: AAH31791.1 |
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 |
UniGenei | Hs.150087 |
3D structure databases
ProteinModelPortali | O75477 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 115859, 62 interactors |
CORUMi | O75477 |
IntActi | O75477, 51 interactors |
MINTi | O75477 |
STRINGi | 9606.ENSP00000384900 |
Protein family/group databases
TCDBi | 1.P.1.1.1 the polyoma virus sv40 er penitration channel (vpec) family |
PTM databases
GlyConnecti | 1221 |
iPTMneti | O75477 |
PhosphoSitePlusi | O75477 |
SwissPalmi | O75477 |
Polymorphism and mutation databases
BioMutai | ERLIN1 |
Proteomic databases
EPDi | O75477 |
jPOSTi | O75477 |
MaxQBi | O75477 |
PaxDbi | O75477 |
PeptideAtlasi | O75477 |
PRIDEi | O75477 |
ProteomicsDBi | 50039 |
Protocols and materials databases
DNASUi | 10613 |
Structural Biology Knowledgebase | Search... |
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 |
EuPathDBi | HostDB:ENSG00000107566.13 |
GeneCardsi | ERLIN1 |
HGNCi | HGNC:16947 ERLIN1 |
HPAi | HPA011252 |
MalaCardsi | ERLIN1 |
MIMi | 611604 gene 615681 phenotype |
neXtProti | NX_O75477 |
Orphaneti | 401785 Autosomal recessive spastic paraplegia type 62 |
PharmGKBi | PA162385299 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2962 Eukaryota ENOG410XQSH LUCA |
HOGENOMi | HOG000251613 |
HOVERGENi | HBG050934 |
InParanoidi | O75477 |
OrthoDBi | 930534at2759 |
PhylomeDBi | O75477 |
TreeFami | TF313059 |
Enzyme and pathway databases
Reactomei | R-HSA-382556 ABC-family proteins mediated transport R-HSA-5678895 Defective CFTR causes cystic fibrosis |
Miscellaneous databases
ChiTaRSi | ERLIN1 human |
GeneWikii | ERLIN1 |
GenomeRNAii | 10613 |
PROi | PR:O75477 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107566 Expressed in 236 organ(s), highest expression level in endometrium |
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... |
Entry informationi
Entry namei | ERLN1_HUMAN | |
Accessioni | O75477Primary (citable) accession number: O75477 Secondary accession number(s): B0QZ42, Q53HV0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2005 |
Last sequence update: | November 1, 1998 | |
Last modified: | February 13, 2019 | |
This is version 145 of the entry and version 1 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
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations