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Aliases for EPB41L4A Gene

Aliases for EPB41L4A Gene

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

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. Diseases associated with EPB41L4A include Mixed Germ Cell Cancer. GO annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is EPB41L5.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L4A Gene

Genomics for EPB41L4A Gene

Regulatory Elements for EPB41L4A Gene

Enhancers for EPB41L4A 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
GH05F112338 1 Ensembl ENCODE 25.8 +80.7 80686 1.4 GTF2F1 MXI1 JUN MAX CEBPG ZKSCAN1 E2F1 ZNF316 GATA3 CTBP1 EPB41L4A ENSG00000251187 GC05M112329 ENSG00000248350
GH05F112182 1 Ensembl ENCODE 20.1 +236.0 236009 1.2 TEAD4 BMI1 ZIC2 HIC1 ZFHX2 ZNF366 EGR2 RFX1 SP3 GFI1B EPB41L4A ENSG00000250882 ENSG00000251187
GH05F112204 0.9 Ensembl ENCODE 21.1 +213.8 213751 1.6 MTA2 TBL1XR1 NR2F1 TAL1 ARID1B JUND NCOR1 SMARCA4 IKZF1 ZNF512 EPB41L4A ENSG00000251187 LOC101927023 ENSG00000250882 GC05M112191
GH05F112417 1 ENCODE 18.3 +0.3 316 3.0 ZFP64 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 SP3 JUNB EPB41L4A NREP-AS1 ENSG00000248350
GH05F112165 0.8 ENCODE 18.6 +253.2 253245 1.6 TEAD4 MAX CEBPG TEAD3 GATA3 GATAD1 POLR2A MAFK THAP11 GATAD2A EPB41L4A ENSG00000251187 PIR36107 ENSG00000250882
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPB41L4A on UCSC Golden Path with GeneCards custom track

Promoters for EPB41L4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001287556 290 3200 ZFP64 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 SP3 JUNB

Genomic Location for EPB41L4A Gene

Chromosome:
5
Start:
112,142,319 bp from pter
End:
112,419,490 bp from pter
Size:
277,172 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

No data available for DME Specific Peptides for EPB41L4A Gene

Domains & Families for EPB41L4A Gene

Gene Families for EPB41L4A Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCS5

UniProtKB/Swiss-Prot:

E41LA_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L4A: view

Function 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:0005200 structural constituent of cytoskeleton IBA --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view

Phenotypes for EPB41L4A Gene

MGI mutant phenotypes for EPB41L4A:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPB41L4A:
genes like me logo Genes that share phenotypes with EPB41L4A: view

Animal Models for EPB41L4A Gene

MGI Knock Outs for EPB41L4A:

Animal Model Products

miRNA for EPB41L4A Gene

miRTarBase miRNAs that target EPB41L4A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
cytosol 3
nucleus 2

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 --
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view

Pathways & Interactions for EPB41L4A Gene

SuperPathways for EPB41L4A Gene

No Data Available

Interacting Proteins for EPB41L4A Gene

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 --
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

Transcripts for EPB41L4A Gene

Unigene Clusters for EPB41L4A Gene

Erythrocyte membrane protein band 4.1 like 4A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for EPB41L4A Gene

GeneLoc Exon Structure for
EPB41L4A
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of EPB41L4A Gene:

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.
genes like me logo Genes that share expression patterns with EPB41L4A: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia EPB41L4A 34 35
  • 92.1 (n)
mouse
(Mus musculus)
Mammalia Epb4.1l4a 34 35
  • 87.07 (n)
Epb41l4a 16
dog
(Canis familiaris)
Mammalia EPB41L4A 34 35
  • 85.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4A 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPB41L4A 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L4A 34 35
  • 79.87 (n)
lizard
(Anolis carolinensis)
Reptilia EPB41L4A 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l4a 34
  • 76.3 (n)
Str.5813 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2882 34
zebrafish
(Danio rerio)
Actinopterygii epb41l4a 34 35
  • 69.21 (n)
epb4.1l4 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001632 34
  • 47.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34347 35
  • 14 (a)
OneToOne
Species where no ortholog for EPB41L4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for EPB41L4A Gene

Paralogs for EPB41L4A Gene

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

genes like me logo Genes that share paralogs with EPB41L4A: view

Variants for EPB41L4A Gene

Sequence variations from dbSNP and Humsavar for EPB41L4A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs730882207 Likely pathogenic 112,204,453(-) TAAGT(C/T)GCCAA nc-transcript-variant, reference, missense
rs10035153 -- 112,347,235(+) atcca(C/T)gaggt intron-variant
rs10036273 -- 112,420,380(+) TCCCA(A/G)TCCCA nc-transcript-variant, upstream-variant-2KB
rs10036357 -- 112,418,779(+) CCTGG(C/T)ACGTC intron-variant, upstream-variant-2KB
rs10037235 -- 112,334,040(+) GGTTG(C/G)GGGGT intron-variant

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

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

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)

Relevant External Links for EPB41L4A Gene

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

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

Disorders for EPB41L4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPB41L4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed germ cell cancer
  • mixed germ cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPB41L4A

Genetic Association Database (GAD)
EPB41L4A
Human Genome Epidemiology (HuGE) Navigator
EPB41L4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L4A
genes like me logo Genes that share disorders with EPB41L4A: view

No data available for 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. (Jpn. J. Cancer Res. 2000) 2 3 4 64
  2. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G. … Tregouet D.A. (BMC Med. Genet. 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64

Products for EPB41L4A Gene

Sources for EPB41L4A Gene

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