The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [pr... See more...

Aliases for EPB41L4A Gene

Aliases for EPB41L4A Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 4A 2 3 5
  • Band 4.1-Like Protein 4A 3 4
  • EPB41L4 3 4
  • NBL4 2 3
  • Erythrocyte Membrane Protein Band 4.1-Like 4A 4
  • Erythrocyte Protein Band 4.1-Like 4 3
  • Protein NBL4 4
  • EPB41L4A 5

External Ids for EPB41L4A Gene

Previous GeneCards Identifiers for EPB41L4A Gene

  • GC05M111923
  • GC05M111509
  • GC05M111555
  • GC05M111576
  • GC05M111507
  • GC05M106677
  • GC05M111478

Summaries for EPB41L4A Gene

Entrez Gene Summary for EPB41L4A Gene

  • The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]

GeneCards Summary for EPB41L4A Gene

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is EPB41L5.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPB41L4A Gene

Genomics for EPB41L4A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPB41L4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J112417 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 268.3 +0.1 112 3.6 ZBTB10 ZNF217 CTCF ZBTB7B ZIC2 ZNF610 CEBPB REST ZNF740 ZNF639 EPB41L4A EPB41L4A-DT piR-47910 NREP
GH05J112449 Promoter 0.3 EPDnew 261.5 -30.5 -30493 0.1 EPB41L4A piR-33905-074 piR-51956-002 APC
GH05J112338 Enhancer 0.8 Ensembl ENCODE 26.5 +80.0 79953 2.5 ZNF217 CEBPB MAX EP300 RXRA PRDM1 CTBP1 FOXA2 STAT3 TCF7L2 EPB41L4A ENSG00000251187 piR-43583-449 lnc-NREP-5 NREP
GH05J112204 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 21.1 +213.6 213612 3 IKZF1 TAL1 HDAC2 TAF1 TCF12 TEAD4 SP1 ARID1B DPF2 TBL1XR1 lnc-NREP-2 EPB41L4A ENSG00000251187 ENSG00000250882 HE856192 NREP
GH05J112165 Enhancer 1 Ensembl ENCODE 18.6 +253.1 253068 1.6 CEBPA ZNF217 POLR2A THAP11 CEBPB SIN3A FOXA2 MAFF GABPB1 TEAD3 piR-43108 EPB41L4A ENSG00000251187 ENSG00000250882 lnc-NREP-2 NREP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPB41L4A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPB41L4A

Top Transcription factor binding sites by QIAGEN in the EPB41L4A gene promoter:
  • AP-1
  • c-Myc
  • HNF-3beta
  • Max1
  • Sp1
  • STAT5A
  • USF-1
  • USF1
  • Zic3

Genomic Locations for EPB41L4A Gene

Latest Assembly
chr5:112,141,829-112,419,313
(GRCh38/hg38)
Size:
277,485 bases
Orientation:
Minus strand

Previous Assembly
chr5:111,478,137-111,754,974
(GRCh37/hg19 by Entrez Gene)
Size:
276,838 bases
Orientation:
Minus strand

chr5:111,478,138-111,755,013
(GRCh37/hg19 by Ensembl)
Size:
276,876 bases
Orientation:
Minus strand

Genomic View for EPB41L4A Gene

Genes around EPB41L4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L4A Gene

Proteins for EPB41L4A Gene

  • Protein details for EPB41L4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCS5-E41LA_HUMAN
    Recommended name:
    Band 4.1-like protein 4A
    Protein Accession:
    Q9HCS5
    Secondary Accessions:
    • A4FUI6

    Protein attributes for EPB41L4A Gene

    Size:
    686 amino acids
    Molecular mass:
    79059 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EPB41L4A Gene

Post-translational modifications for EPB41L4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPB41L4A Gene

No data available for DME Specific Peptides for EPB41L4A Gene

Domains & Families for EPB41L4A Gene

Gene Families for EPB41L4A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPB41L4A Gene

GenScript: Design optimal peptide antigens:
  • Erythrocyte membrane protein band 4.1 like 4A, isoform CRA_a (D3DT02_HUMAN)
  • Protein NBL4 (E41LA_HUMAN)
  • Erythrocyte membrane protein band 4.1 like 4A, isoform CRA_b (Q8NEH8_HUMAN)
genes like me logo Genes that share domains with EPB41L4A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EPB41L4A Gene

Function for EPB41L4A Gene

Phenotypes From GWAS Catalog for EPB41L4A Gene

Gene Ontology (GO) - Molecular Function for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view
genes like me logo Genes that share phenotypes with EPB41L4A: view

Animal Models for EPB41L4A Gene

MGI Knock Outs for EPB41L4A:

miRNA for EPB41L4A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L4A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L4A Gene

Localization for EPB41L4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L4A 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 EPB41L4A gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with EPB41L4A: view

Pathways & Interactions for EPB41L4A Gene

PathCards logo

SuperPathways for EPB41L4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031032 actomyosin structure organization IBA 21873635
genes like me logo Genes that share ontologies with EPB41L4A: view

No data available for Pathways by source and SIGNOR curated interactions for EPB41L4A Gene

Drugs & Compounds for EPB41L4A Gene

No Compound Related Data Available

Transcripts for EPB41L4A Gene

mRNA/cDNA for EPB41L4A Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L4A

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L4A Gene

No ASD Table

Relevant External Links for EPB41L4A Gene

GeneLoc Exon Structure for
EPB41L4A

Expression for EPB41L4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPB41L4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPB41L4A Gene

This gene is overexpressed in Cervix (37.9), Plasma (16.7), and Adrenal (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPB41L4A Gene



Protein tissue co-expression partners for EPB41L4A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPB41L4A

SOURCE GeneReport for Unigene cluster for EPB41L4A Gene:

Hs.584954

mRNA Expression by UniProt/SwissProt for EPB41L4A Gene:

Q9HCS5-E41LA_HUMAN
Tissue specificity: Expressed in many tissues. High levels of expression in brain, liver, thymus and peripheral blood leukocytes and low levels of expression in heart, kidney, testis and colon.

Evidence on tissue expression from TISSUES for EPB41L4A Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with EPB41L4A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L4A Gene

Orthologs for EPB41L4A Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L4A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPB41L4A 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPB41L4A 30 31
  • 92.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Epb4.1l4a 30 31
  • 87.07 (n)
OneToOne
Epb41l4a 17
Dog
(Canis familiaris)
Mammalia EPB41L4A 30 31
  • 85.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4A 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EPB41L4A 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EPB41L4A 30 31
  • 79.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPB41L4A 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia epb41l4a 30
  • 76.3 (n)
Str.5813 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2882 30
Zebrafish
(Danio rerio)
Actinopterygii epb41l4a 30 31
  • 69.21 (n)
OneToOne
epb4.1l4 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001632 30
  • 47.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG34347 31
  • 14 (a)
OneToOne
Species where no ortholog for EPB41L4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for EPB41L4A Gene

ENSEMBL:
Gene Tree for EPB41L4A (if available)
TreeFam:
Gene Tree for EPB41L4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPB41L4A: view image

Paralogs for EPB41L4A Gene

Paralogs for EPB41L4A Gene

(19) SIMAP similar genes for EPB41L4A Gene using alignment to 3 proteins:

  • E41LA_HUMAN
  • D3DT02_HUMAN
  • Q8NEH8_HUMAN
genes like me logo Genes that share paralogs with EPB41L4A: view

Variants for EPB41L4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPB41L4A Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
769302 Benign: not provided 112,168,782(-) C/.
NM_022140.5(EPB41L4A):c.1889= (p.Arg630=)
NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION
rs111958355 Benign: not provided 112,184,063(-) T/C
NM_022140.5(EPB41L4A):c.1575A>G (p.Lys525=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs114541405 Benign: not provided 112,204,429(-) C/T
NM_022140.5(EPB41L4A):c.1322G>A (p.Arg441His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs149373122 Benign: not provided 112,195,690(-) A/T
NM_022140.5(EPB41L4A):c.1395T>A (p.Gly465=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs1551935 Benign: not provided 112,165,054(-) G/A
NM_022140.5(EPB41L4A):c.1997C>T (p.Ala666Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPB41L4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPB41L4A Gene

Variant ID Type Subtype PubMed ID
dgv1124e214 CNV loss 21293372
dgv5782n100 CNV loss 25217958
esv2730600 CNV deletion 23290073
esv274937 CNV gain+loss 21479260
esv3303854 CNV mobile element insertion 20981092
esv3347337 CNV insertion 20981092
esv3405974 CNV insertion 20981092
esv3606287 CNV gain 21293372
esv3606290 CNV loss 21293372
esv3606291 CNV loss 21293372
esv3606292 CNV loss 21293372
esv3606294 CNV gain 21293372
esv3606295 CNV loss 21293372
esv6662 CNV gain 19470904
nsv437471 CNV loss 16327808
nsv462386 CNV gain 19166990
nsv473753 CNV novel sequence insertion 20440878
nsv519008 CNV loss 19592680
nsv519077 CNV loss 19592680
nsv599367 CNV gain 21841781
nsv599368 CNV gain 21841781
nsv599371 CNV loss 21841781
nsv599372 CNV gain 21841781
nsv950114 CNV deletion 24416366

Variation tolerance for EPB41L4A Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPB41L4A Gene

Human Gene Mutation Database (HGMD)
EPB41L4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPB41L4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L4A Gene

Disorders for EPB41L4A Gene

Additional Disease Information for EPB41L4A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for EPB41L4A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPB41L4A Gene

Publications for EPB41L4A Gene

  1. Isolation and characterization of human NBL4, a gene involved in the beta-catenin/tcf signaling pathway. (PMID: 10874211) Ishiguro H … Nakamura Y (Japanese journal of cancer research : Gann 2000) 2 3 4
  2. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G … Tregouet DA (BMC medical genetics 2011) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for EPB41L4A Gene

Sources for EPB41L4A Gene