Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EPB41L4A Gene

Aliases for EPB41L4A Gene

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

  • Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008]

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 FRMD3.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EPB41L4A Gene at MOPED

Post-translational modifications for EPB41L4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPB41L4A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EPB41L4A

No data available for DME Specific Peptides for EPB41L4A Gene

Domains & 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

No data available for Gene Families for EPB41L4A Gene

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:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L4A: view

Animal Model Products

CRISPR Products

miRNA for EPB41L4A Gene

miRTarBase miRNAs that target EPB41L4A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , 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
Jensen Localization Image for EPB41L4A Gene COMPARTMENTS Subcellular localization image for EPB41L4A gene
Compartment Confidence
cytoskeleton 3

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 IEA --
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

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261486%0d%0a9606.ENSP00000362931%0d%0a9606.ENSP00000377262%0d%0a
Selected Interacting proteins: ENSP00000261486 Q9HCS5-E41LA_HUMAN for EPB41L4A Gene via STRING I2D

Gene Ontology (GO) - Biological Process for EPB41L4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
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

Unigene Clusters for EPB41L4A Gene

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

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 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, PaxDb, MOPED, and MaxQB for EPB41L4A Gene



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

Protein tissue co-expression partners for EPB41L4A Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia EPB41L4A 35
  • 92.1 (n)
  • 95.62 (a)
EPB41L4A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L4A 35
  • 85.33 (n)
  • 90.03 (a)
EPB41L4A 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l4a 35
  • 87.07 (n)
  • 93.29 (a)
Epb4.1l4a 16
Epb4.1l4a 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPB41L4A 35
  • 99.32 (n)
  • 99.42 (a)
EPB41L4A 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPB41L4A 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L4A 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L4A 35
  • 79.87 (n)
  • 87.04 (a)
EPB41L4A 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L4A 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l4a 35
  • 76.3 (n)
  • 81.71 (a)
Str.5813 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2882 35
zebrafish
(Danio rerio)
Actinopterygii epb4.1l4 35
epb41l4a 35
  • 69.21 (n)
  • 76.74 (a)
epb41l4a 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001632 35
  • 47.88 (n)
  • 45.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34347 36
  • 14 (a)
OneToOne
Species with no ortholog for EPB41L4A:
  • 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

(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 MAF
VAR_055537 -

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

Variant ID Type Subtype PubMed ID
nsv519077 CNV Loss 19592680
esv2730600 CNV Deletion 23290073
nsv882714 CNV Loss 21882294
esv268133 CNV Insertion 20981092
nsv462386 CNV Gain 19166990
nsv437471 CNV Loss 16327808
esv274937 CNV Gain+Loss 21479260
nsv519008 CNV Loss 19592680
esv6662 CNV Gain 19470904

Variation tolerance for EPB41L4A Gene

Residual Variation Intolerance Score: 92.72% 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

HapMap Linkage Disequilibrium report
EPB41L4A
Human Gene Mutation Database (HGMD)
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 tumour
- elite association

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. 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) 23 67
  2. 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 67
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 67
  4. 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) 67
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 67

Products for EPB41L4A Gene

Sources for EPB41L4A Gene

Back to Top

Content