EPB41L1 (erythrocyte membrane protein band 4.1 like 1)

2016-10-01 Affiliation

Identity

HGNC

EPB41L1

LOCATION

20q11.23

LOCUSID

2036

ALIAS

4.1N,MRD11

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: 2036
MIM: 602879
HGNC: 3378
Ensembl: ENSG00000088367

Variants:

dbSNP: 2036
ClinVar: 2036
TCGA: ENSG00000088367
COSMIC: EPB41L1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000088367	ENST00000202028	Q9H4G0
ENSG00000088367	ENST00000338074	Q9H4G0
ENSG00000088367	ENST00000373941	A0A0C4DH22
ENSG00000088367	ENST00000373945	Q4VXN1
ENSG00000088367	ENST00000373946	A0A0C4DH22
ENSG00000088367	ENST00000373950	Q9H4G0
ENSG00000088367	ENST00000406771	Q4VXN6
ENSG00000088367	ENST00000427533	Q4VXN8
ENSG00000088367	ENST00000430276	Q4VXN0
ENSG00000088367	ENST00000432589	Q4VXN2
ENSG00000088367	ENST00000432603	H0Y482
ENSG00000088367	ENST00000441639	Q9H4G0
ENSG00000088367	ENST00000447825	Q4VXN7
ENSG00000088367	ENST00000451082	H7C2K6
ENSG00000088367	ENST00000452261	Q4VXN5
ENSG00000088367	ENST00000454226	X6RC15
ENSG00000088367	ENST00000628415	Q9H4G0
ENSG00000088367	ENST00000636016	A0A1B0GTW6

Expression (GTEx)

100

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
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity	REACTOME	R-HSA-399721
Trafficking of AMPA receptors	REACTOME	R-HSA-399719
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362
Interactions of neurexins and neuroligins at synapses	REACTOME	R-HSA-6794361

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
20471030	2010	Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.	42
12181426	2002	D2 and D3 dopamine receptor cell surface localization mediated by interaction with protein 4.1N.	36
20468064	2010	Association study of 182 candidate genes in anorexia nervosa.	30
26575790	2016	Protein 4.1N acts as a potential tumor suppressor linking PP1 to JNK-c-Jun pathway regulation in NSCLC.	11
26648170	2016	4.1N suppresses hypoxia-induced epithelial-mesenchymal transition in epithelial ovarian cancer cells.	3
27448302	2016	4.1N is involved in a flotillin-1/β-catenin/Wnt pathway and suppresses cell proliferation and migration in non-small cell lung cancer cell lines.	1
23400781	2013	Kainate receptor post-translational modifications differentially regulate association with 4.1N to control activity-dependent receptor endocytosis.	0
29428502	2018	Protein 4.1N is required for the formation of the lateral membrane domain in human bronchial epithelial cells.	0

Citation

Dessen P

EPB41L1 (erythrocyte membrane protein band 4.1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56614/epb41l1