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Aliases for EHBP1 Gene

Aliases for EHBP1 Gene

  • EH Domain Binding Protein 1 2 3 5
  • NACSIN 3 4
  • Testis Tissue Sperm-Binding Protein Li 50e 3
  • EH Domain-Binding Protein 1 3
  • NPF Calponin-Like Protein 3
  • KIAA0903 4
  • HPC12 3

External Ids for EHBP1 Gene

Previous GeneCards Identifiers for EHBP1 Gene

  • GC02P062844
  • GC02P062786
  • GC02P062639
  • GC02P062900

Summaries for EHBP1 Gene

Entrez Gene Summary for EHBP1 Gene

  • This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

GeneCards Summary for EHBP1 Gene

EHBP1 (EH Domain Binding Protein 1) is a Protein Coding gene. Diseases associated with EHBP1 include Prostate Cancer, Hereditary, 12 and Prostate Cancer Susceptibility. An important paralog of this gene is EHBP1L1.

UniProtKB/Swiss-Prot for EHBP1 Gene

  • May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHBP1 Gene

Genomics for EHBP1 Gene

Regulatory Elements for EHBP1 Gene

Enhancers for EHBP1 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
GH02G062575 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -95.5 -95515 5.0 FOXA2 ATF1 MLX ZNF133 SIN3A ZNF48 GTF3C2 SLC30A9 GATA2 FOS ENSG00000226622 EHBP1 OTX1 LOC100132215 CCT4 GC02M062561 RSL24D1P2
GH02G062568 1.5 Ensembl ENCODE dbSUPER 15.2 -103.7 -103717 4.0 HNRNPUL1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 PAF1 SP5 ZHX2 EHBP1 ENSG00000226622 OTX1 LOC100132215 GC02M062561 RSL24D1P2
GH02G062704 1.4 ENCODE dbSUPER 10.5 +32.3 32348 3.7 HDGF PKNOX1 FOXA2 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 OTX1 ENSG00000226622 EHBP1 CCT4 ENSG00000252436
GH02G062456 1.3 Ensembl ENCODE 10.3 -215.7 -215660 3.3 HDGF HNRNPUL1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 RPL37P13 TMEM17 ENSG00000226622 EHBP1 ENSG00000228541 GC02M062385
GH02G062473 1.3 Ensembl ENCODE 10.2 -197.7 -197677 5.4 HDGF FOXA2 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 TMEM17 RPL37P13 ENSG00000226622 EHBP1 COMMD1 CCT4 ENSG00000228541 GC02P062494
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EHBP1 Gene

Chromosome:
2
Start:
62,673,851 bp from pter
End:
63,046,487 bp from pter
Size:
372,637 bases
Orientation:
Plus strand

Genomic View for EHBP1 Gene

Genes around EHBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHBP1 Gene

Proteins for EHBP1 Gene

  • Protein details for EHBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDI1-EHBP1_HUMAN
    Recommended name:
    EH domain-binding protein 1
    Protein Accession:
    Q8NDI1
    Secondary Accessions:
    • O94977
    • Q53TG7
    • Q53TV6
    • Q580X2
    • Q6NX72
    • Q6PIT3
    • Q6QNV2
    • Q9NWI9

    Protein attributes for EHBP1 Gene

    Size:
    1231 amino acids
    Molecular mass:
    140017 Da
    Quaternary structure:
    • Interacts with EHD1 (By similarity). Interacts with EHD2. Interacts with RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); at least in case of RAB8A may bind 2 molecules of RAB8A simultaneously through a high and a low affinity binding site, respectively.
    SequenceCaution:
    • Sequence=BAA91391.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EHBP1 Gene

    Alternative splice isoforms for EHBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHBP1 Gene

Post-translational modifications for EHBP1 Gene

  • Prenylated (Probable). Farnelysation (predominant) and geranylgeranylation has been observed in vitro.
  • Ubiquitination at Lys763
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EHBP1 Gene

Domains & Families for EHBP1 Gene

Protein Domains for EHBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NDI1

UniProtKB/Swiss-Prot:

EHBP1_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 C-terminal RAB-binding domain (RBD), also described as 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 EHBP1: view

No data available for Gene Families for EHBP1 Gene

Function for EHBP1 Gene

Molecular function for EHBP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity).
genes like me logo Genes that share phenotypes with EHBP1: view

Animal Model Products

CRISPR Products

miRNA for EHBP1 Gene

miRTarBase miRNAs that target EHBP1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EHBP1 Gene

Localization for EHBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHBP1 Gene

Cytoplasm. Membrane. Endosome. Note=Mostly found in cytosol and plasma membrane.

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 EHBP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 4
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for EHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EHBP1: view

Pathways & Interactions for EHBP1 Gene

SuperPathways for EHBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with EHBP1: view

No data available for Pathways by source and SIGNOR curated interactions for EHBP1 Gene

Drugs & Compounds for EHBP1 Gene

No Compound Related Data Available

Transcripts for EHBP1 Gene

Unigene Clusters for EHBP1 Gene

EH domain binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EHBP1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: - - - -
SP6:
SP7: - - -
SP8:
SP9:

ExUns: 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c
SP1: -
SP2: -
SP3: -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for EHBP1 Gene

GeneLoc Exon Structure for
EHBP1
ECgene alternative splicing isoforms for
EHBP1

Expression for EHBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EHBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EHBP1 Gene

This gene is overexpressed in Fetal Brain (16.8), Gallbladder (11.6), and Pancreas (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EHBP1 Gene



Protein tissue co-expression partners for EHBP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EHBP1 Gene:

EHBP1

SOURCE GeneReport for Unigene cluster for EHBP1 Gene:

Hs.271667

Evidence on tissue expression from TISSUES for EHBP1 Gene

  • Nervous system(4.7)
  • Kidney(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with EHBP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EHBP1 Gene

Orthologs for EHBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EHBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHBP1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia EHBP1 34 35
  • 94.28 (n)
cow
(Bos Taurus)
Mammalia EHBP1 34 35
  • 92.53 (n)
mouse
(Mus musculus)
Mammalia Ehbp1 34 16 35
  • 87.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EHBP1 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehbp1 34
  • 86.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHBP1 34 35
  • 82.02 (n)
lizard
(Anolis carolinensis)
Reptilia EHBP1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehbp1 34
  • 71.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17139 34
zebrafish
(Danio rerio)
Actinopterygii ehbp1 34 35
  • 65.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehbp-1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
Species where no ortholog for EHBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EHBP1 Gene

ENSEMBL:
Gene Tree for EHBP1 (if available)
TreeFam:
Gene Tree for EHBP1 (if available)

Paralogs for EHBP1 Gene

(3) SIMAP similar genes for EHBP1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with EHBP1: view

Variants for EHBP1 Gene

Sequence variations from dbSNP and Humsavar for EHBP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035913 A breast cancer sample
rs721048 Pathogenic 62,904,596(+) CTTGG(A/G)GAATA intron-variant
rs1000013121 -- 62,905,668(+) AAAAT(A/G)CAAAA intron-variant
rs1000024794 -- 62,762,622(+) TCTTT(A/G)TCTCT intron-variant
rs1000025612 -- 62,718,038(+) TTTCT(C/T)AGACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EHBP1 Gene

Variant ID Type Subtype PubMed ID
dgv60n68 CNV gain 17160897
dgv704e214 CNV loss 21293372
esv1123705 CNV insertion 17803354
esv2589354 CNV insertion 19546169
esv2720133 CNV deletion 23290073
esv2720134 CNV deletion 23290073
esv3591047 CNV gain 21293372
esv3591048 CNV loss 21293372
nsv1004678 CNV loss 25217958
nsv1109258 CNV deletion 24896259
nsv1150543 CNV deletion 26484159
nsv476550 CNV novel sequence insertion 20440878
nsv7313 OTHER inversion 18451855
nsv954223 CNV insertion 24416366
nsv979009 CNV duplication 23825009

Variation tolerance for EHBP1 Gene

Residual Variation Intolerance Score: 6.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHBP1 Gene

Disorders for EHBP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EHBP1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer, hereditary, 12
  • familial prostate cancer 12
prostate cancer susceptibility
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search EHBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EHBP1_HUMAN
  • Prostate cancer, hereditary, 12 (HPC12) [MIM:611868]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:18264098}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for EHBP1

Genetic Association Database (GAD)
EHBP1
Human Genome Epidemiology (HuGE) Navigator
EHBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHBP1
genes like me logo Genes that share disorders with EHBP1: view

No data available for Genatlas for EHBP1 Gene

Publications for EHBP1 Gene

  1. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. (PMID: 18264098) Gudmundsson J. … Stefansson K. (Nat. Genet. 2008) 3 4 46 64
  2. EHD2 and the novel EH domain binding protein EHBP1 couple endocytosis to the actin cytoskeleton. (PMID: 14676205) Guilherme A. … Czech M.P. (J. Biol. Chem. 2004) 3 4 22 64
  3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  4. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H. … Han C. (Prostate 2011) 3 46 64
  5. Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study. (PMID: 20717903) Wang Y. … Lange E.M. (Prostate 2011) 3 46 64

Products for EHBP1 Gene

Sources for EHBP1 Gene

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