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 4
  • DKFZp762C186 2
  • Tangerin 3
  • TANGERIN 2
  • EHBP1L1 5

External Ids for EHBP1L1 Gene

Previous GeneCards Identifiers for EHBP1L1 Gene

  • GC11P065100
  • GC11P065343
  • GC11P061670
  • GC11P065579
  • GC11P065581
  • GC11P065598
  • GC11P065628
  • GC11P065814

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 Summary for EHBP1L1 Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EHBP1L1 Gene

Genomics for EHBP1L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EHBP1L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EHBP1L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EHBP1L1

Top Transcription factor binding sites by QIAGEN in the EHBP1L1 gene promoter:
  • C/EBPalpha
  • CREB
  • E2F
  • E2F-1
  • GATA-2
  • Hlf
  • NRSF form 1
  • NRSF form 2
  • Sox5
  • Spz1

Genomic Locations for EHBP1L1 Gene

Latest Assembly
chr11:65,576,034-65,592,650
(GRCh38/hg38)
Size:
16,617 bases
Orientation:
Plus strand

Previous Assembly
chr11:65,343,524-65,360,121
(GRCh37/hg19 by Entrez Gene)
Size:
16,598 bases
Orientation:
Plus strand

chr11:65,343,509-65,360,121
(GRCh37/hg19 by Ensembl)
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:
    • 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

InterPro:
Blocks:
  • Calponin-like actin-binding
ProtoNet:

Suggested Antigen Peptide Sequences for EHBP1L1 Gene

GenScript: Design optimal peptide antigens:
  • EH domain-binding protein 1-like protein 1 (EH1L1_HUMAN)

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

Inhibitory RNAs for research

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

Clone products for research

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
cytoskeleton 3
nucleus 3
endosome 3
cytosol 3
plasma membrane 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EHBP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005815 microtubule organizing center IBA 21873635
GO:0016020 membrane HDA 19946888
GO:0031941 filamentous actin IBA 21873635
genes like me logo Genes that share ontologies with EHBP1L1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EHBP1L1 Gene

Pathways & Interactions for EHBP1L1 Gene

PathCards logo

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 --
GO:0030036 actin cytoskeleton organization IBA 21873635
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

mRNA/cDNA for EHBP1L1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 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 EHBP1L1

Clone products for research

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

Expression for EHBP1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EHBP1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Lung(2.7)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with EHBP1L1: view

Primer products for research

No data available for 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 30 31
  • 99.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EHBP1L1 30 31
  • 83.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EHBP1L1 30 31
  • 82.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EHBP1L1 31
  • 70 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ehbp1l1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1L1 31
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ehbp1l1b 31
  • 21 (a)
OneToMany
EHBP1L1 (1 of 2) 31
  • 11 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4556 30
Fruit Fly
(Drosophila melanogaster)
Insecta Ehbp1 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ehbp-1 31
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
Species where no ortholog for EHBP1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EHBP1L1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1194099 - p.Asp569Val
rs1194100 - p.Val133Leu
rs3741380 - p.Arg307Gln
rs6591182 - p.Val538Gly
rs7931052 - p.Thr599Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EHBP1L1 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 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

SNP Genotyping and Copy Number Assays for research

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

Disorders for EHBP1L1 Gene

Additional Disease Information for EHBP1L1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3

Products for EHBP1L1 Gene

Sources for EHBP1L1 Gene