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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 Protein 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 EHBP1.

UniProtKB/Swiss-Prot for EHBP1L1 Gene

  • May act as Rab effector protein and play a role in vesicle trafficking.

Additional gene information for EHBP1L1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHBP1L1 Gene

Genomics for EHBP1L1 Gene

GeneHancer (GH) Regulatory Elements for EHBP1L1 Gene

Promoters and enhancers for EHBP1L1 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
GH11J065567 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 663.9 -2.4 -2364 12 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSSCA1 EHBP1L1 FAM89B SF1 POLA2 LOC105369352 PCNX3 EIF1AD KAT5 MUS81
GH11J065470 Promoter/Enhancer 2.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 31.5 -86.0 -85954 40 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 LOC105369346 SF1 POLA2 PCNX3 ZFPL1 EIF1AD SART1 LOC105369352 MUS81 KAT5
GH11J065636 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 +64.6 64644 8.2 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A YBX1 POLR2B ZNF207 ZNF143 SIPA1 RBM14 RBM4 EIF1AD SF1 ZFPL1 PCNX3 KAT5 SF3B2 POLA2
GH11J065550 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -19.8 -19846 11.3 HDGF PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A YBX1 FEZF1 ZNF2 LTBP3 ZFPL1 EIF1AD SF1 PCNX3 POLA2 SF3B2 SART1 MUS81 KAT5
GH11J065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -151.9 -151857 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 GC11P065538 SF1 LOC105369352 ZFPL1 POLA2 EIF1AD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EHBP1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EHBP1L1 gene promoter:

Genomic Locations for EHBP1L1 Gene

Genomic Locations for EHBP1L1 Gene
chr11:65,576,038-65,592,650
(GRCh38/hg38)
Size:
16,613 bases
Orientation:
Plus strand
chr11:65,343,509-65,360,121
(GRCh37/hg19)

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:
    • Interacts with RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); at least in case of RAB8A can bind 2 molecules of RAB8A simultaneously; ternary complex formation of RAB8A, RAB13 and EHBP1L1 is possible.

neXtProt entry for EHBP1L1 Gene

Post-translational modifications for EHBP1L1 Gene

  • Prenylated (Probable). Farnelysation (predominant) and geranylgeranylation has been observed in vitro.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EHBP1L1 Gene

Domains & Families for EHBP1L1 Gene

Gene Families for EHBP1L1 Gene

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

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 :
  • The CAAX motif is a signal for prenylation and required for endosomal colocalization with Rab8 and Rab10.
Domain:
  • The CAAX motif is a signal for prenylation and required for endosomal colocalization with Rab8 and Rab10.
  • The bivalent Mical/EHBP Rab binding (bMERB) domain, mediates binding to Rab8, Rab10, Rab10, Rab13 and Rab15 (in their GTP-bound forms).
genes like me logo Genes that share domains with EHBP1L1: view

Function for EHBP1L1 Gene

Molecular function for EHBP1L1 Gene

UniProtKB/Swiss-Prot Function:
May act as Rab effector protein and play a role in vesicle trafficking.

Phenotypes From GWAS Catalog for EHBP1L1 Gene

Gene Ontology (GO) - Molecular Function for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with EHBP1L1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EHBP1L1

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

Localization for EHBP1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHBP1L1 Gene

Endosome.

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 EHBP1L1 gene
Compartment Confidence
cytosol 4
nucleus 3
endosome 3
plasma membrane 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with EHBP1L1: view

Pathways & Interactions for EHBP1L1 Gene

SuperPathways for EHBP1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with EHBP1L1: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EHBP1L1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EHBP1L1 Gene



Protein tissue co-expression partners for EHBP1L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHBP1L1 Gene:

EHBP1L1

SOURCE GeneReport for Unigene cluster for EHBP1L1 Gene:

Hs.502867

Evidence on tissue expression from TISSUES for EHBP1L1 Gene

  • Muscle(4.5)
  • Spleen(4.4)
  • Liver(4.2)
  • Lung(2.7)
  • Intestine(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with EHBP1L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EHBP1L1 34 33
  • 83.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EHBP1L1 34 33
  • 82.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EHBP1L1 34
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehbp1l1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1L1 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ehbp1l1b 34
  • 21 (a)
OneToMany
EHBP1L1 (1 of 2) 34
  • 11 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4556 33
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehbp-1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
Species where no ortholog for EHBP1L1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EHBP1L1: view image

Paralogs for EHBP1L1 Gene

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

  • EH1L1_HUMAN
  • E9PIH6_HUMAN
  • E9PSB0_HUMAN
  • H0YDZ9_HUMAN
  • L0R4X4_HUMAN
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 Variation AA Info Type
rs1000012937 -- 65,577,270(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000059647 -- 65,576,721(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000067271 -- 65,589,446(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000083692 -- 65,583,449(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs1000298836 -- 65,576,407(+) G/A genic_upstream_transcript_variant, splice_donor_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1969n54 CNV loss 21841781
esv2761680 CNV gain 21179565
nsv951018 CNV deletion 24416366

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)

Additional Variant Information for EHBP1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHBP1L1

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

Disorders for EHBP1L1 Gene

Additional Disease Information for 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. EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells. (PMID: 26833786) Nakajo A … Harada A (The Journal of cell biology 2016) 3 4 58
  2. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N … Nonalcoholic Steatohepatitis Clinical Research Network (Gastroenterology 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. bMERB domains are bivalent Rab8 family effectors evolved by gene duplication. (PMID: 27552051) Rai A … Müller MP (eLife 2016) 4 58

Products for EHBP1L1 Gene

Sources for EHBP1L1 Gene

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