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Aliases for EPB41L1 Gene

Aliases for EPB41L1 Gene

  • Erythrocyte Membrane Protein Band 4.1-Like 1 2 3
  • Neuronal Protein 4.1 3 4
  • MRD11 3 6
  • 4.1N 3 4
  • Neuron-Type Nonerythroid Protein 4.1 3
  • Band 4.1-Like Protein 1 3
  • KIAA0338 4

External Ids for EPB41L1 Gene

Summaries for EPB41L1 Gene

Entrez Gene Summary for EPB41L1 Gene

  • 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]

GeneCards Summary for EPB41L1 Gene

EPB41L1 (Erythrocyte Membrane Protein Band 4.1-Like 1) is a Protein Coding gene. Diseases associated with EPB41L1 include mental retardation, autosomal dominant 11 and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Transmission across Chemical Synapses and Transmission across Chemical Synapses. GO annotations related to this gene include actin binding and structural molecule activity. An important paralog of this gene is FRMD3.

UniProtKB/Swiss-Prot for EPB41L1 Gene

  • May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases

Gene Wiki entry for EPB41L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L1 Gene

Genomics for EPB41L1 Gene

Genomic Location for EPB41L1 Gene

Start:
36,091,504 bp from pter
End:
36,232,799 bp from pter
Size:
141,296 bases
Orientation:
Plus strand

Genomic View for EPB41L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EPB41L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L1 Gene

Regulatory Elements for EPB41L1 Gene

Proteins for EPB41L1 Gene

  • Protein details for EPB41L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4G0-E41L1_HUMAN
    Recommended name:
    Band 4.1-like protein 1
    Protein Accession:
    Q9H4G0
    Secondary Accessions:
    • O15046
    • Q4VXM6
    • Q4VXM7
    • Q4VXM8
    • Q4VXN4
    • Q6ZT61
    • Q8IUU7
    • Q96CV5
    • Q96L65

    Protein attributes for EPB41L1 Gene

    Size:
    881 amino acids
    Molecular mass:
    98503 Da
    Quaternary structure:
    • Interacts with AGAP2.
    SequenceCaution:
    • Sequence=BAA20796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPB41L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L1 Gene

Proteomics data for EPB41L1 Gene at MOPED

Post-translational modifications for EPB41L1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys323

No data available for DME Specific Peptides for EPB41L1 Gene

Domains for EPB41L1 Gene

UniProtKB/Swiss-Prot:

E41L1_HUMAN
Domain:
  • Contains 1 FERM domain.:
    • Q9H4G0
genes like me logo Genes that share domains with EPB41L1: view

No data available for Gene Families for EPB41L1 Gene

Function for EPB41L1 Gene

Molecular function for EPB41L1 Gene

GENATLAS Biochemistry: erythrocyte surface protein 4.1-like 1,strongly expressed in the brain
UniProtKB/Swiss-Prot Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases

Gene Ontology (GO) - Molecular Function for EPB41L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding --
GO:0008092 cytoskeletal protein binding --
genes like me logo Genes that share ontologies with EPB41L1: view

Phenotypes for EPB41L1 Gene

genes like me logo Genes that share phenotypes with EPB41L1: view

Animal Models for EPB41L1 Gene

MGI Knock Outs for EPB41L1:

miRNA for EPB41L1 Gene

miRTarBase miRNAs that target EPB41L1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for EPB41L1 Gene

Localization for EPB41L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPB41L1 Gene COMPARTMENTS Subcellular localization image for EPB41L1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EPB41L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with EPB41L1: view

Pathways for EPB41L1 Gene

genes like me logo Genes that share pathways with EPB41L1: view

Gene Ontology (GO) - Biological Process for EPB41L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS --
GO:0030866 cortical actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with EPB41L1: view

Transcripts for EPB41L1 Gene

Unigene Clusters for EPB41L1 Gene

Erythrocyte membrane protein band 4.1-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - - - - - - - - -
SP2: -
SP3:
SP4: - - - - - - - - - - - - - - - - -
SP5: - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - -
SP10: - - - - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - - -
SP12: - - - - - -
SP13: - - - - - - - - - - - - - - - - - -
SP14:
SP15:
SP16: - - - - - - - -
SP17: - - - - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - - - - - - -
SP22: - - - - - - - - - - - - - -
SP23: - - - - - - - - - -
SP24:
SP25: - - - - - - - - - - - - -
SP26: - - - - - - - - - - - - - - - - - -
SP27: - - - - - - - - - - - - - -
SP28: - - -
SP29:
SP30:

ExUns: 15b ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c · 26d ^ 27 ^ 28a ·
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:
SP18:
SP19: - - - -
SP20:
SP21:
SP22:
SP23:
SP24: -
SP25:
SP26: - - - - - -
SP27:
SP28:
SP29:
SP30:

ExUns: 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35a · 35b ^ 36 ^ 37
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30: -

Relevant External Links for EPB41L1 Gene

GeneLoc Exon Structure for
EPB41L1
ECgene alternative splicing isoforms for
EPB41L1

Expression for EPB41L1 Gene

mRNA expression in normal human tissues for EPB41L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPB41L1 Gene

SOURCE GeneReport for Unigene cluster for EPB41L1 Gene Hs.437422

mRNA Expression by UniProt/SwissProt for EPB41L1 Gene

Q9H4G0-E41L1_HUMAN
Tissue specificity: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle
genes like me logo Genes that share expressions with EPB41L1: view

Orthologs for EPB41L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L1 36
  • 99.66 (n)
  • 99.89 (a)
EPB41L1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L1 36
  • 90.99 (n)
  • 94.86 (a)
EPB41L1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L1 36
  • 91.69 (n)
  • 94.41 (a)
EPB41L1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l1 36
  • 90.97 (n)
  • 95.22 (a)
Epb4.1l1 16
Epb4.1l1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L1 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911769 36
  • 89.35 (n)
  • 93.94 (a)
chicken
(Gallus gallus)
Aves EPB41L1 36
  • 78.28 (n)
  • 80.97 (a)
EPB41L1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L1 37
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l1 36
  • 68.32 (n)
  • 72.76 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
EPB41L1 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cora 37
  • 18 (a)
OneToMany
CG5022 38
  • 38 (a)
cora 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea frm-3 38
  • 35 (a)
frm-4 38
  • 28 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4436 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToMany
Species with no ortholog for EPB41L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPB41L1 Gene

ENSEMBL:
Gene Tree for EPB41L1 (if available)
TreeFam:
Gene Tree for EPB41L1 (if available)

Paralogs for EPB41L1 Gene

genes like me logo Genes that share paralogs with EPB41L1: view

Variants for EPB41L1 Gene

Sequence variations from dbSNP and Humsavar for EPB41L1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs15360 -- 36,230,223(+) TATGG(G/T)TTCTC utr-variant-3-prime
rs742693 -- 36,099,250(-) TCTGT(C/T)ATTTT intron-variant
rs752697 -- 36,158,904(+) AGGAA(C/T)CTTTG intron-variant
rs761312 -- 36,099,887(+) GTTCC(A/G)GAGGT intron-variant
rs873925 -- 36,099,528(-) ATGAC(A/T)ATGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41L1 Gene

Variant ID Type Subtype PubMed ID
nsv833965 CNV Loss 17160897
nsv3368 CNV Insertion 18451855
nsv3369 CNV Insertion 18451855

Relevant External Links for EPB41L1 Gene

HapMap Linkage Disequilibrium report
EPB41L1
Human Gene Mutation Database (HGMD)
EPB41L1

Disorders for EPB41L1 Gene

(1) OMIM Diseases for EPB41L1 Gene (602879)

UniProtKB/Swiss-Prot

E41L1_HUMAN
  • Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EPB41L1

Genetic Association Database (GAD)
EPB41L1
Human Genome Epidemiology (HuGE) Navigator
EPB41L1
genes like me logo Genes that share disorders with EPB41L1: view

Publications for EPB41L1 Gene

  1. D2 and D3 dopamine receptor cell surface localization mediated by interaction with protein 4.1N. (PMID: 12181426) Binda A.V. … Levenson R. (Mol. Pharmacol. 2002) 3 23
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4
  3. Radiation hybrid mapping of EPB41L1, a novel protein 4.1 homologue, to human chromosome 20q11.2-q12. (PMID: 9570967) Kim A.C. … Chishti A.H. (Genomics 1998) 2 3
  4. Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PMID: 9828140) Peters L.L. … Conboy J.G. (Genomics 1998) 2 3
  5. PIKE: a nuclear GTPase that enhances PI3kinase activity and is regulated by protein 4.1N. (PMID: 11136977) Ye K. … Snyder S.H. (Cell 2000) 3 4

Products for EPB41L1 Gene

Sources for EPB41L1 Gene

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