ERLIN1

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
Inferred from direct assayⁱ
- 24217618
ubiquitin protein ligase binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cholesterol metabolic process Source: UniProtKB-KW
negative regulation of cholesterol biosynthetic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24217618
negative regulation of fatty acid biosynthetic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24217618
SREBP signaling pathway
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24217618
transmembrane transport Source: Reactome
ubiquitin-dependent ERAD pathway
Source: UniProtKB
Inferred from direct assayⁱ
- 19240031

View the complete GO annotation on QuickGO ...

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

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

TCDBⁱ

1.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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000107566.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:16947 ERLIN1
MIMⁱ	611604 gene
neXtProtⁱ	NX_O75477

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Keywords - Diseaseⁱ

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	10613
MalaCards human disease database More...MalaCardsⁱ	ERLIN1
MIMⁱ	615681 phenotype
Orphanetⁱ	401785 Autosomal recessive spastic paraplegia type 62
PharmGKBⁱ	PA162385299

Polymorphism and mutation databases

BioMutaⁱ	ERLIN1

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, Glycoprotein

Proteomic databases

EPDⁱ	O75477
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O75477
PaxDbⁱ	O75477
PeptideAtlas More...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
CleanExⁱ	HS_ERLIN1
ExpressionAtlasⁱ	O75477 baseline and differential
Genevisibleⁱ	O75477 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA011252

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

With	Entry	#Exp.	IntAct
	B2RDE6	3	EBI-359299,EBI-10175845
AGR3	Q8TD06	5	EBI-359299,EBI-3925742
SEC22A	Q96IW7	5	EBI-359299,EBI-8652744
TMEM199	Q8N511	3	EBI-359299,EBI-10265825

GO - Molecular functionⁱ

ubiquitin protein ligase binding Source: InterPro

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	115859, 59 interactors
CORUMⁱ	O75477
IntActⁱ	O75477, 49 interactors
Molecular INTeraction database More...MINTⁱ	O75477
STRINGⁱ	9606.ENSP00000384900

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O75477
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

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

Keywords - Domainⁱ

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG2962 Eukaryota ENOG410XQSH LUCA
HOGENOMⁱ	HOG000251613
HOVERGENⁱ	HBG050934
InParanoidⁱ	O75477
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G037D
PhylomeDBⁱ	O75477
TreeFamⁱ	TF313059

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01145 Band_7, 1 hit
SMARTⁱ	View protein in SMART SM00244 PHB, 1 hit
SUPFAMⁱ	SSF117892 SSF117892, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

O75477-1 [UniParc]FASTA Add 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.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	B0QZ43	B0QZ43_HUMAN		Erlin-1 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
NCBI Reference Sequences More...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
UCSC genome browser More...UCSCⁱ	uc001kqn.5 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O75477	SPFH domain family, member 1, isoform CRA_a		HUMAN		348	UniRef100_O75477
ER lipid raft associated 1		PANTR		348
Uncharacterized protein		PANPA		348
ERLIN1 isoform 3 (Fragment)		PONAB		275
Erlin-1 (Fragment)		HUMAN		275
+3

Protein	Similar proteins		Species	Score	Length	Source
O75477	Erlin-1		MOUSE		346	UniRef90_O75477
Erlin-1		PONAB		346
SPFH domain family, member 1, isoform CRA_a		HUMAN		348
ER lipid raft associated 1		PANTR		348
Uncharacterized protein		PANPA		348
+117

Protein	Similar proteins		Species	Score	Length	Source
O75477	Erlin-1		PONAB		346	UniRef50_O75477
Erlin-1		MOUSE		346
Erlin-2		RAT		339
Erlin-2		BOVIN		338
SPFH domain family, member 1, isoform CRA_a		HUMAN		348
+354

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, 59 interactors
CORUMⁱ	O75477
IntActⁱ	O75477, 49 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

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

BioMutaⁱ

ERLIN1

Proteomic databases

EPDⁱ	O75477
MaxQBⁱ	O75477
PaxDbⁱ	O75477
PeptideAtlasⁱ	O75477
PRIDEⁱ	O75477
ProteomicsDBⁱ	50039

Protocols and materials databases

The DNASU plasmid repository More...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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2962 Eukaryota ENOG410XQSH LUCA
HOGENOMⁱ	HOG000251613
HOVERGENⁱ	HBG050934
InParanoidⁱ	O75477
OrthoDBⁱ	EOG091G037D
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

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
Protein Ontology More...PROⁱ	PR:O75477
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000107566 Expressed in 236 organ(s), highest expression level in endometrium
CleanExⁱ	HS_ERLIN1
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:	November 7, 2018
	This is version 142 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 proteome

Documents

SIMILARITY comments
Index of protein domains and families
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
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM

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UniParc

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UniRef

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Supporting data

UniProtKB - O75477 (ERLN1_HUMAN)

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Erlin-1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Endoplasmic reticulum

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ