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Aliases for EPB41L1 Gene

Aliases for EPB41L1 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 1 2 3
  • Erythrocyte Membrane Protein Band 4.1-Like 1 3 5
  • Neuronal Protein 4.1 3 4
  • 4.1N 3 4
  • Neuron-Type Nonerythroid Protein 4.1 3
  • KIAA0338 4
  • MRD11 3

External Ids for EPB41L1 Gene

Previous GeneCards Identifiers for EPB41L1 Gene

  • GC20P034501
  • GC20P035347
  • GC20P035394
  • GC20P035415
  • GC20P034142
  • GC20P034679
  • GC20P031477
  • GC20P036091

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 Tight junction. GO annotations related to this gene include actin binding and cytoskeletal protein binding. 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

Regulatory Elements for EPB41L1 Gene

Promoters for EPB41L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L1 Gene

Chromosome:
20
Start:
36,064,891 bp from pter
End:
36,232,799 bp from pter
Size:
167,909 bases
Orientation:
Plus strand

Genomic View for EPB41L1 Gene

Genes around EPB41L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPB41L1 Gene

Domains & Families for EPB41L1 Gene

Gene Families for EPB41L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4G0

UniProtKB/Swiss-Prot:

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

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

Human Phenotype Ontology for EPB41L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPB41L1 Gene

MGI Knock Outs for EPB41L1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
plasma membrane 5
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EPB41L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with EPB41L1: view

Pathways & Interactions for EPB41L1 Gene

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

Gene Ontology (GO) - Biological Process for EPB41L1 Gene

None

No data available for SIGNOR curated interactions for EPB41L1 Gene

Drugs & Compounds for EPB41L1 Gene

No Compound Related Data Available

Transcripts for EPB41L1 Gene

Unigene Clusters for EPB41L1 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for EPB41L1 Gene

This gene is overexpressed in Frontal cortex (17.8), Brain (15.4), Fetal Brain (10.9), and Nasal epithelium (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EPB41L1: view

Protein tissue co-expression partners for EPB41L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EPB41L1 Gene

Orthologs for EPB41L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPB41L1 35
  • 90.99 (n)
  • 94.86 (a)
EPB41L1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L1 35
  • 91.69 (n)
  • 94.41 (a)
EPB41L1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l1 35
  • 90.97 (n)
  • 95.22 (a)
Epb41l1 16
Epb4.1l1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPB41L1 35
  • 99.66 (n)
  • 99.89 (a)
EPB41L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911769 35
  • 89.35 (n)
  • 93.94 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L1 35
  • 78.28 (n)
  • 80.97 (a)
EPB41L1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l1 35
  • 68.32 (n)
  • 72.76 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
EPB41L1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5022 37
  • 38 (a)
cora 37
  • 57 (a)
cora 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-3 37
  • 35 (a)
frm-4 37
  • 28 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4436 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_066600 Mental retardation, autosomal dominant 11 (MRD11)
rs752697 -- 36,158,904(+) AGGAA(C/T)CTTTG intron-variant
rs932434 -- 36,074,965(+) AAAAC(C/T)CTGTa intron-variant
rs761312 -- 36,099,887(+) GTTCC(A/G)GAGGT intron-variant
rs964786 -- 36,100,569(+) CCAAG(C/T)GAGGC 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

Variation tolerance for EPB41L1 Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPB41L1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L1 Gene

Disorders for EPB41L1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EPB41L1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 11
  • mrd11
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
enophthalmos
orbital disease
  • orbital diseases
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L1
genes like me logo Genes that share disorders with EPB41L1: view

No data available for Genatlas for EPB41L1 Gene

Publications for EPB41L1 Gene

  1. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. (PMID: 21376300) Hamdan F.F. … Michaud J.L. (Am. J. Hum. Genet. 2011) 3 4 67
  2. Protein 4.1, a component of the erythrocyte membrane skeleton and its related homologue proteins forming the protein 4.1/FERM superfamily. (PMID: 17219717) Diakowski W. … Sikorski A.F. (Folia Histochem. Cytobiol. 2006) 3 23
  3. 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
  4. 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
  5. 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

Products for EPB41L1 Gene

Sources for EPB41L1 Gene

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