ERLIN1 (ER lipid raft associated 1)

2014-11-01 Affiliation

Identity

HGNC

ERLIN1

LOCATION

10q24.31

LOCUSID

10613

ALIAS

C10orf69,Erlin-1,KE04,KEO4,SPFH1,SPG62

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10613
MIM: 611604
HGNC: 16947
Ensembl: ENSG00000107566

Variants:

dbSNP: 10613
ClinVar: 10613
TCGA: ENSG00000107566
COSMIC: ERLIN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000107566	ENST00000370408	B0QZ43
ENSG00000107566	ENST00000407654	O75477
ENSG00000107566	ENST00000421367	O75477

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
ABC transporter disorders	REACTOME	R-HSA-5619084
Defective CFTR causes cystic fibrosis	REACTOME	R-HSA-5678895
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18940312	2008	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	150
16835267	2006	Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.	88
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20471030	2010	Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.	42
19240031	2009	An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors.	41
24217618	2013	Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.	16
24217618	2013	Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.	16
23477746	2013	The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.	14
19751772	2009	SPFH1 and SPFH2 mediate the ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors in muscarinic receptor-expressing HeLa cells.	12
21048031	2011	Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.	5

Citation

Dessen P

ERLIN1 (ER lipid raft associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62895/erlin1