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Aliases for EPB41L1 Gene

Aliases for EPB41L1 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 1 2 3 5
  • Neuronal Protein 4.1 3 4
  • 4.1N 3 4
  • Neuron-Type Nonerythroid Protein 4.1 3
  • Band 4.1-Like Protein 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 Protein-protein interactions at synapses and Trafficking of AMPA receptors. GO annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is EPB41L3.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L1 Gene

Genomics for EPB41L1 Gene

Regulatory Elements for EPB41L1 Gene

Enhancers for EPB41L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G036095 1.7 FANTOM5 Ensembl ENCODE dbSUPER 31.8 +32.3 32329 3.8 TBP PKNOX1 SREBF2 RFX5 ETS1 GATA2 EGR1 RCOR1 RELB IKZF2 EPB41L1 CNBD2 PHF20 SPAG4 RBM39 ENSG00000237063 ENSG00000232406
GH20G036100 1.4 FANTOM5 ENCODE dbSUPER 31.7 +36.5 36487 1.1 ELF3 PKNOX1 FOXA2 ZSCAN9 RARA GATA2 FOS MIXL1 ZBTB11 MXD4 EPB41L1 CNBD2 ENSG00000237063 ENSG00000232406
GH20G036082 1.6 Ensembl ENCODE dbSUPER 20.6 +20.2 20179 5.0 PKNOX1 CREB3L1 SIN3A ZNF766 FOS KLF13 DEK JUNB NFYC ZNF592 EPB41L1 MYL9 AAR2 SAMHD1 CPNE1 CNBD2 ENSG00000237063 HMGB3P2
GH20G036091 1.7 FANTOM5 ENCODE dbSUPER 16.7 +28.2 28198 3.6 SIN3A ZNF2 YY1 ZNF766 REST SMARCB1 KAT8 MEF2D SMARCA4 GLIS1 EPB41L1 RPL36P4 CPNE1 DLGAP4 ENSG00000237063 ENSG00000232406
GH20G036166 1.4 Ensembl ENCODE dbSUPER 18.4 +103.7 103728 3.3 PKNOX1 BMI1 RFX5 SLC30A9 SCRT2 ZNF143 RCOR1 CREM IKZF2 SMARCC1 EPB41L1 CPNE1 CNBD2 AAR2 RNU6-937P ENSG00000232406 ENSG00000278035
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPB41L1 on UCSC Golden Path with GeneCards custom track

Promoters for EPB41L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136644 9 1001 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2

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

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

No data available for UniProtKB/Swiss-Prot 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:0005200 structural constituent of cytoskeleton IBA --
GO:0005515 protein binding IPI 21044950
GO:0008092 cytoskeletal protein binding 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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPB41L1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
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 IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA,IBA --
GO:0005886 plasma membrane TAS --
GO:0005912 adherens 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030866 cortical actin cytoskeleton organization IEA --
GO:0031032 actomyosin structure organization IBA --
genes like me logo Genes that share ontologies with EPB41L1: view

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPB41L1 Gene



Protein tissue co-expression partners for EPB41L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPB41L1 Gene:

EPB41L1

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.

Evidence on tissue expression from TISSUES for EPB41L1 Gene

  • Nervous system(4.9)
  • Pancreas(4.4)
  • Liver(4.3)
  • Lung(2.8)
  • Adrenal gland(2.4)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with EPB41L1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia EPB41L1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia EPB41L1 34 35
  • 91.69 (n)
cow
(Bos Taurus)
Mammalia EPB41L1 34 35
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Epb4.1l1 34 35
  • 90.97 (n)
Epb41l1 16
rat
(Rattus norvegicus)
Mammalia LOC100911769 34
  • 89.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L1 34 35
  • 78.28 (n)
lizard
(Anolis carolinensis)
Reptilia EPB41L1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l1 34
  • 68.32 (n)
zebrafish
(Danio rerio)
Actinopterygii EPB41L1 35
  • 54 (a)
OneToOne
-- 34
fruit fly
(Drosophila melanogaster)
Insecta cora 36 35
  • 57 (a)
CG5022 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea frm-3 36
  • 35 (a)
frm-4 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4436 34
Species where no ortholog for EPB41L1 was found in the sources mined by GeneCards:
  • 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

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) [MIM:614257]
rs111572179 Likely benign 36,187,770(+) TACCA(C/G)CAGCT intron-variant
rs115743976 Likely benign 36,190,694(+) AGGAC(C/T)CAGGC reference, synonymous-codon
rs116334224 Likely benign 36,182,336(+) ACAGA(A/G)GACAT reference, synonymous-codon
rs2295568 Likely benign 36,194,249(+) AACCA(C/T)GATGC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv3557034 CNV deletion 23714750
nsv1066673 CNV loss 25217958
nsv3368 CNV insertion 18451855
nsv3369 CNV insertion 18451855
nsv473499 CNV novel sequence insertion 20440878
nsv833964 CNV loss 17160897
nsv833965 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
EPB41L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. 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 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for EPB41L1 Gene

Sources for EPB41L1 Gene

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