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Protein

Erlin-1

Gene

ERLIN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis

Protein family/group databases

TCDBi1.P.1.1.1 the polyoma virus sv40 er penitration channel (vpec) family

Names & Taxonomyi

Protein namesi
Recommended name:
Erlin-1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107566.13
HGNCiHGNC:16947 ERLIN1
MIMi611604 gene
neXtProtiNX_O75477

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5CytoplasmicSequence analysis5
Transmembranei6 – 26HelicalSequence analysisAdd BLAST21
Topological domaini27 – 346LumenalSequence analysisAdd BLAST320

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & 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:615681
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07784748G → V in SPG62. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi10613
MalaCardsiERLIN1
MIMi615681 phenotype
Orphaneti401785 Autosomal recessive spastic paraplegia type 62
PharmGKBiPA162385299

Polymorphism and mutation databases

BioMutaiERLIN1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000027841 – 346Erlin-1Add BLAST346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi106N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei267N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

EPDiO75477
MaxQBiO75477
PaxDbiO75477
PeptideAtlasiO75477
PRIDEiO75477
ProteomicsDBi50039

PTM databases

GlyConnecti1221
iPTMnetiO75477
PhosphoSitePlusiO75477
SwissPalmiO75477

Expressioni

Tissue specificityi

Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000107566 Expressed in 236 organ(s), highest expression level in endometrium
CleanExiHS_ERLIN1
ExpressionAtlasiO75477 baseline and differential
GenevisibleiO75477 HS

Organism-specific databases

HPAiHPA011252

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

Protein-protein interaction databases

BioGridi115859, 59 interactors
CORUMiO75477
IntActiO75477, 49 interactors
MINTiO75477
STRINGi9606.ENSP00000384900

Structurei

3D structure databases

ProteinModelPortaliO75477
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2962 Eukaryota
ENOG410XQSH LUCA
HOGENOMiHOG000251613
HOVERGENiHBG050934
InParanoidiO75477
OrthoDBiEOG091G037D
PhylomeDBiO75477
TreeFamiTF313059

Family and domain databases

CDDicd03406 SPFH_like_u3, 1 hit
InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR033294 Erlin1/2
PANTHERiPTHR15351 PTHR15351, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:346
Mass (Da):38,926
Last modified:November 1, 1998 - v1
Checksum:iD703ACFD3328A27B
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QZ43B0QZ43_HUMAN
Erlin-1
ERLIN1
275Annotation score:

Sequence cautioni

The sequence EAW49846 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti257K → R in BAD96200 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07784748G → V in SPG62. 1 Publication1

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
RefSeqiNP_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
UniGeneiHs.150087

Genome annotation databases

EnsembliENST00000407654; ENSP00000384900; ENSG00000107566
ENST00000421367; ENSP00000410964; ENSG00000107566
GeneIDi10613
KEGGihsa:10613
UCSCiuc001kqn.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
RefSeqiNP_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
UniGeneiHs.150087

3D structure databases

ProteinModelPortaliO75477
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115859, 59 interactors
CORUMiO75477
IntActiO75477, 49 interactors
MINTiO75477
STRINGi9606.ENSP00000384900

Protein family/group databases

TCDBi1.P.1.1.1 the polyoma virus sv40 er penitration channel (vpec) family

PTM databases

GlyConnecti1221
iPTMnetiO75477
PhosphoSitePlusiO75477
SwissPalmiO75477

Polymorphism and mutation databases

BioMutaiERLIN1

Proteomic databases

EPDiO75477
MaxQBiO75477
PaxDbiO75477
PeptideAtlasiO75477
PRIDEiO75477
ProteomicsDBi50039

Protocols and materials databases

DNASUi10613
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407654; ENSP00000384900; ENSG00000107566
ENST00000421367; ENSP00000410964; ENSG00000107566
GeneIDi10613
KEGGihsa:10613
UCSCiuc001kqn.5 human

Organism-specific databases

CTDi10613
DisGeNETi10613
EuPathDBiHostDB:ENSG00000107566.13
GeneCardsiERLIN1
HGNCiHGNC:16947 ERLIN1
HPAiHPA011252
MalaCardsiERLIN1
MIMi611604 gene
615681 phenotype
neXtProtiNX_O75477
Orphaneti401785 Autosomal recessive spastic paraplegia type 62
PharmGKBiPA162385299
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2962 Eukaryota
ENOG410XQSH LUCA
HOGENOMiHOG000251613
HOVERGENiHBG050934
InParanoidiO75477
OrthoDBiEOG091G037D
PhylomeDBiO75477
TreeFamiTF313059

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis

Miscellaneous databases

ChiTaRSiERLIN1 human
GeneWikiiERLIN1
GenomeRNAii10613
PROiPR:O75477
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107566 Expressed in 236 organ(s), highest expression level in endometrium
CleanExiHS_ERLIN1
ExpressionAtlasiO75477 baseline and differential
GenevisibleiO75477 HS

Family and domain databases

CDDicd03406 SPFH_like_u3, 1 hit
InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR033294 Erlin1/2
PANTHERiPTHR15351 PTHR15351, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiERLN1_HUMAN
AccessioniPrimary (citable) accession number: O75477
Secondary accession number(s): B0QZ42, Q53HV0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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