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Aliases for EHBP1L1 Gene

Aliases for EHBP1L1 Gene

  • EH Domain Binding Protein 1 Like 1 2 3 5
  • EH Domain Binding Protein 1-Like 1 3
  • Tangerin 3

External Ids for EHBP1L1 Gene

Previous GeneCards Identifiers for EHBP1L1 Gene

  • GC11P065100
  • GC11P065343
  • GC11P061670

Summaries for EHBP1L1 Gene

GeneCards Summary for EHBP1L1 Gene

EHBP1L1 (EH Domain Binding Protein 1 Like 1) is a Protein Coding gene. An important paralog of this gene is SMTNL2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHBP1L1 Gene

Genomics for EHBP1L1 Gene

Regulatory Elements for EHBP1L1 Gene

Promoters for EHBP1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EHBP1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EHBP1L1 Gene

Chromosome:
11
Start:
65,576,038 bp from pter
End:
65,592,650 bp from pter
Size:
16,613 bases
Orientation:
Plus strand

Genomic View for EHBP1L1 Gene

Genes around EHBP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHBP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHBP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHBP1L1 Gene

Proteins for EHBP1L1 Gene

  • Protein details for EHBP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3D4-EH1L1_HUMAN
    Recommended name:
    EH domain-binding protein 1-like protein 1
    Protein Accession:
    Q8N3D4
    Secondary Accessions:
    • Q8TB89
    • Q9H7M7

    Protein attributes for EHBP1L1 Gene

    Size:
    1523 amino acids
    Molecular mass:
    161854 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EHBP1L1 Gene

Proteomics data for EHBP1L1 Gene at MOPED

Post-translational modifications for EHBP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHBP1L1 Gene

No data available for DME Specific Peptides for EHBP1L1 Gene

Domains & Families for EHBP1L1 Gene

Protein Domains for EHBP1L1 Gene

Suggested Antigen Peptide Sequences for EHBP1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3D4

UniProtKB/Swiss-Prot:

EH1L1_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
Domain:
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 NT-C2 domain.
genes like me logo Genes that share domains with EHBP1L1: view

No data available for Gene Families for EHBP1L1 Gene

Function for EHBP1L1 Gene

Gene Ontology (GO) - Molecular Function for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with EHBP1L1: view

Phenotypes for EHBP1L1 Gene

genes like me logo Genes that share phenotypes with EHBP1L1: view

Animal Model Products

CRISPR Products

miRNA for EHBP1L1 Gene

miRTarBase miRNAs that target EHBP1L1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EHBP1L1 Gene

Localization for EHBP1L1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EHBP1L1 Gene COMPARTMENTS Subcellular localization image for EHBP1L1 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with EHBP1L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EHBP1L1 Gene

Pathways & Interactions for EHBP1L1 Gene

SuperPathways for EHBP1L1 Gene

No Data Available

Interacting Proteins for EHBP1L1 Gene

Gene Ontology (GO) - Biological Process for EHBP1L1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EHBP1L1 Gene

Drugs & Compounds for EHBP1L1 Gene

No Compound Related Data Available

Transcripts for EHBP1L1 Gene

Unigene Clusters for EHBP1L1 Gene

EH domain binding protein 1-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EHBP1L1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c · 14d ^
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: - - - - - -
SP11: - -

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for EHBP1L1 Gene

GeneLoc Exon Structure for
EHBP1L1
ECgene alternative splicing isoforms for
EHBP1L1

Expression for EHBP1L1 Gene

mRNA expression in normal human tissues for EHBP1L1 Gene

mRNA differential expression in normal tissues according to GTEx for EHBP1L1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.2) and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for EHBP1L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.3) and Adrenal (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EHBP1L1 Gene



SOURCE GeneReport for Unigene cluster for EHBP1L1 Gene Hs.502867

genes like me logo Genes that share expression patterns with EHBP1L1: view

Protein tissue co-expression partners for EHBP1L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for EHBP1L1 Gene

Orthologs for EHBP1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EHBP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHBP1L1 35
  • 99.15 (n)
  • 98.56 (a)
EHBP1L1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EHBP1L1 36
  • 76 (a)
OneToOne
EHBP1L1 35
  • 83.29 (n)
  • 75.35 (a)
dog
(Canis familiaris)
Mammalia EHBP1L1 35
  • 82.06 (n)
  • 74.31 (a)
EHBP1L1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehbp1l1 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EHBP1L1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1L1 36
  • 37 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4556 35
zebrafish
(Danio rerio)
Actinopterygii EHBP1L1 (1 of 2) 36
  • 11 (a)
OneToMany
ehbp1l1b 36
  • 21 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehbp-1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
Species with no ortholog for EHBP1L1:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EHBP1L1 Gene

ENSEMBL:
Gene Tree for EHBP1L1 (if available)
TreeFam:
Gene Tree for EHBP1L1 (if available)

Paralogs for EHBP1L1 Gene

(2) SIMAP similar genes for EHBP1L1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EHBP1L1: view

Variants for EHBP1L1 Gene

Sequence variations from dbSNP and Humsavar for EHBP1L1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs3741380 - 65,581,592(+) GCTCC(A/G)GAAAG intron-variant, reference, missense
rs6591182 - 65,582,285(+) CCAGG(G/T)GAGCA intron-variant, upstream-variant-2KB, reference, missense
rs1194099 - 65,582,378(-) CCAGG(A/T)CCCCT intron-variant, upstream-variant-2KB, reference, missense
rs7931052 - 65,582,468(+) TAGGA(C/T)ACTAG intron-variant, upstream-variant-2KB, reference, missense
rs7931269 - 65,582,615(+) AGAGA(C/T)TGAGG intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for EHBP1L1 Gene

Variant ID Type Subtype PubMed ID
dgv1175n71 CNV Loss 21882294
nsv897718 CNV Loss 21882294
nsv897720 CNV Loss 21882294
dgv1176n71 CNV Loss 21882294
nsv897723 CNV Loss 21882294
nsv897730 CNV Loss 21882294
dgv1179n71 CNV Loss 21882294
dgv1180n71 CNV Loss 21882294
nsv897736 CNV Loss 21882294
dgv1181n71 CNV Loss 21882294
dgv1182n71 CNV Loss 21882294
nsv897739 CNV Loss 21882294

Variation tolerance for EHBP1L1 Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.65; 95.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHBP1L1 Gene

HapMap Linkage Disequilibrium report
EHBP1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHBP1L1 Gene

Disorders for EHBP1L1 Gene

Relevant External Links for EHBP1L1

Genetic Association Database (GAD)
EHBP1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHBP1L1

No disorders were found for EHBP1L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EHBP1L1 Gene

Publications for EHBP1L1 Gene

  1. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N. … Rotter J.I. (Gastroenterology 2010) 3 48 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3
  4. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. (PMID: 24954895) Simino J. … Rao D.C. (Am. J. Hum. Genet. 2014) 3
  5. A high-throughput approach for measuring temporal changes in the interactome. (PMID: 22863883) Kristensen A.R. … Foster L.J. (Nat. Methods 2012) 3

Products for EHBP1L1 Gene

Sources for EHBP1L1 Gene

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