EPB41L1 - erythrocyte membrane protein band 4.1 like 1 Gene

Homo sapiens

Also known as 4.1N; MRD11

Gene ID: 2036 | Gene type: protein coding

About EPB41L1

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:36,091,414-36,232,799 (from NCBI)

This gene has 19 transcripts (splice variants), 218 orthologues, 10 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 24.1), adrenal (RPKM 21.5) and 21 other tissues.

Summary

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte Cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

EPB41L1 Products(5)

mRNA	Protein	Name
NM_001258329.1	NP_001245258.1	band 4.1-like protein 1 isoform c
NM_001258330.1	NP_001245259.1	band 4.1-like protein 1 isoform d
NM_001258331.2	NP_001245260.1	band 4.1-like protein 1 isoform b
NM_012156.2	NP_036288.2	band 4.1-like protein 1 isoform a
NM_177996.2	NP_818932.1	band 4.1-like protein 1 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPB41L1 Protein Structure

FERM_N

FERM_M

FERM_C

SAB

4_1_CTD

0
200
400
600
800
881 a.a.

Protein Preferred Names

Protein Names

band 4.1-like protein 1

neuron-type nonerythroid protein 4.1

EPB41L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EPB41L1	Q9H4G0	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	EPB41L1	Q9H4G0	TERF1	Homo sapiens	P54274	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Chromosome 20q11-Q12 Deletion Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 11	Autosomal Dominant Non-Syndromic Intellectual Disability 11
MRD11	Intellectual Developmental Disorder, Autosomal Dominant 11, Included
Mrd11, Included	Mental Retardation, Autosomal Dominant 11, Included
Autosomal Dominant Intellectual Developmental Disorder 11	Autosomal Dominant Mental Retardation 11
Mental Retardation, Autosomal Dominant, Type 11

Autosomal Dominant Non-Syndromic Intellectual Disability

Midface Dysplasia

Enophthalmos

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04411	EPB41L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EPB41L1	VGNC	VGNC:28520
Rattus norvegicus	EPB41L1	RGD	RGD:71087
Mus musculus	EPB41L1	MGD	MGI:103010
Canis familiaris	EPB41L1	VGNC	VGNC:40393
Macaca mulatta	EPB41L1	VGNC	VGNC:72231
Felis catus	EPB41L1	VGNC	VGNC:61892

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