You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
ERLIN1
Erlin-1

Protein Classes
Protein Summary
Description
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). The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000407654
  • ENSP00000384900
  • ENSG00000107566
  • ENST00000421367
  • ENSP00000410964

Symbol
  • C10orf69
  • KE04
  • KEO4
  • SPFH1
  • KE04
  • KEO4
  • SPFH1
  • SPG62
  • Erlin-1
  • C10orf69
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
interacting protein
0.99
histone modification site profile
0.9
kinase perturbation
0.88
transcription factor binding site profile
0.82
microRNA
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.03   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 183   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.03   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 183   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (21)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
3
2
2
22.7
95.8
sex hormone-binding globulin measurement
6
3
6
92.1
aspartate aminotransferase measurement
2
1
1
18.1
86.8
heel bone mineral density
2
2
3
79.6
apolipoprotein A 1 measurement
1
1
1
79.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
2
22.7
95.8
sex hormone-binding globulin measurement
6
92.1
aspartate aminotransferase measurement
1
18.1
86.8
heel bone mineral density
3
79.6
apolipoprotein A 1 measurement
1
79.5
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ER lipid raft associated 1
VGNC:3843
466181
Macaque
ER lipid raft associated 1
709596
Mouse
MGI:2387613
226144
Rat
RGD:1307058
293939
Dog
ER lipid raft associated 1
VGNC:40459
609141
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ER lipid raft associated 1
Macaque
ER lipid raft associated 1
Mouse
Rat
Dog
ER lipid raft associated 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O75477-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (6)
ABC transporter disorders (R-HSA-5619084)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 6
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
ABC transporter disorders
Reactome
ABC-family proteins mediated transport
Reactome
Defective CFTR causes cystic fibrosis
Reactome
Disease
Reactome
Disorders of transmembrane transporters
Name
Explore in Pharos
Explore in Source
ABC transporter disorders
ABC-family proteins mediated transport
Defective CFTR causes cystic fibrosis
Disease
Disorders of transmembrane transporters
Gene Ontology Terms (12)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (80)
1 – 10 of 80
RNF170
Tbio
Family:  Enzyme
Novelty:  0.1117879
p_int:  0.997285754
p_ni:  0.002714246
Score:  0.76
Data Source:  BioPlex,STRINGDB
DUSP3
Tchem
Family:  Enzyme
Novelty:  0.00518547
p_int:  0.990679362
p_ni:  0.009320616
p_wrong:  2.2e-8
Score:  0.319
Data Source:  BioPlex,STRINGDB
TMUB2
Tdark
Novelty:  1.76302035
p_int:  0.966467939
p_ni:  0.033532061
Score:  0.191
Data Source:  BioPlex,STRINGDB
C6orf120
Tdark
Novelty:  0.90888293
p_int:  0.793458905
p_ni:  0.206538908
p_wrong:  0.000002188
Score:  0.199
Data Source:  BioPlex,STRINGDB
ERLIN2
Tbio
Novelty:  0.04060163
Score:  0.986
Data Source:  Reactome,STRINGDB
OS9
Tbio
Novelty:  0.01490339
Score:  0.939
Data Source:  STRINGDB
PHB
Tbio
Novelty:  0.00178383
Score:  0.934
Data Source:  STRINGDB
SEL1L
Tbio
Novelty:  0.01198173
Score:  0.933
Data Source:  STRINGDB
DERL1
Tbio
Novelty:  0.01382722
Score:  0.932
Data Source:  STRINGDB
DERL3
Tbio
Novelty:  0.08077257
Score:  0.927
Data Source:  STRINGDB
Publication Statistics
PubMed Score  17.03

PubMed score by year
PubTator Score  13.56

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by: