EPB41L1

Band 4.1-like protein 1 is a protein that in humans is encoded by the EPB41L1 gene.^[5][6][7]

EPB41L1
Identifiers
Aliases	EPB41L1, 4.1N, MRD11, erythrocyte membrane protein band 4.1 like 1
External IDs	OMIM: 602879; MGI: 103010; HomoloGene: 8126; GeneCards: EPB41L1; OMA:EPB41L1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.23 Start 36,091,504 bp[1] End 36,232,799 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H1|2 77.39 cM Start 156,262,829 bp[2] End 156,385,134 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior vestibular nucleus pars compacta Pons external globus pallidus pars reticulata Parietal Lobe lateral nuclear group of thalamus ventral tegmental area postcentral gyrus middle temporal gyrus Top expressed in visual cortex primary visual cortex superior frontal gyrus cerebellar cortex dentate gyrus of hippocampal formation granule cell pontine nuclei central gray substance of midbrain olfactory tubercle primary motor cortex medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytoskeletal protein binding actin binding protein binding structural molecule activity structural constituent of cytoskeleton Cellular component cytoplasm cytosol cytoskeleton plasma membrane Biological process cortical actin cytoskeleton organization actomyosin structure organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2036 13821 Ensembl ENSG00000088367 ENSMUSG00000027624 UniProt Q9H4G0 Q4VXN0 Q9Z2H5 RefSeq (mRNA) NM_001258329 NM_001258330 NM_001258331 NM_012156 NM_177996 NM_001003815 NM_001006664 NM_001291120 NM_001291121 NM_001291122 NM_001291123 NM_013510 NM_001368800 NM_001368801 NM_001368802 NM_001368803 NM_001368804 RefSeq (protein) NP_001245258 NP_001245259 NP_001245260 NP_036288 NP_818932 NP_001006665 NP_001278049 NP_001278050 NP_001278051 NP_001278052 NP_038538 NP_001355729 NP_001355730 NP_001355731 NP_001355732 NP_001355733 Location (UCSC) Chr 20: 36.09 – 36.23 Mb Chr 2: 156.26 – 156.39 Mb PubMed search [3] [4]
Wikidata
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Function

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched protein that is structurally similar to EPB41. 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, but the full-length nature of only two of them has been determined.^[7]

Interactions

EPB41L1 has been shown to interact with:

• CENTG1,^[8]
• Dopamine receptor D2,^[9]
• Dopamine receptor D3,^[9]
• ITPR1,^[10] and
• Nuclear mitotic apparatus protein 1.^[11]