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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. 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.

No data available for 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
GH02F062575 1.6 FANTOM5 Ensembl ENCODE 15.9 -95.5 -95515 5.0 ATF1 MLX ZNF133 SIN3A ZNF48 GTF3C2 SLC30A9 FOS SP5 PPARG ENSG00000226622 EHBP1 OTX1 LOC100132215 CCT4 RSL24D1P2 GC02M062561
GH02F062568 1.3 Ensembl ENCODE 15.2 -103.7 -103717 4.0 MLX ARID4B FEZF1 DMAP1 YY1 PAF1 SP5 NFYC MXD4 REST EHBP1 ENSG00000226622 OTX1 LOC100132215 RSL24D1P2 GC02M062561
GH02F062456 1.3 Ensembl ENCODE 10.3 -215.7 -215660 3.3 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 RPL37P13 TMEM17 ENSG00000226622 EHBP1 ENSG00000228541 GC02M062385
GH02F062473 1.3 Ensembl ENCODE 10.2 -197.7 -197703 5.5 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 TMEM17 RPL37P13 ENSG00000226622 EHBP1 CCT4 COMMD1 ENSG00000228541 GC02P062494
GH02F062704 1.1 ENCODE 10.5 +32.3 32348 3.7 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 FOS OTX1 ENSG00000226622 EHBP1 CCT4 ENSG00000252436
- 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

62,673,851 bp from pter
63,046,487 bp from pter
372,637 bases
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:
    Recommended name:
    EH domain-binding protein 1
    Protein Accession:
    Secondary Accessions:
    • O94977
    • Q53TG7
    • Q53TV6
    • Q580X2
    • Q6NX72
    • Q6PIT3
    • Q6QNV2
    • Q9NWI9

    Protein attributes for EHBP1 Gene

    1231 amino acids
    Molecular mass:
    140017 Da
    Quaternary structure:
    • Interacts with EHD2.
    • 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


neXtProt entry for EHBP1 Gene

Post-translational modifications for EHBP1 Gene

  • Ubiquitination at Lys 763
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for EHBP1

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



  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 NT-C2 domain.
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.
genes like me logo Genes that share phenotypes with EHBP1: view

Animal Model Products

miRNA for EHBP1 Gene

miRTarBase miRNAs that target EHBP1

Inhibitory RNA Products

Flow Cytometry 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. Note=Mostly found in cytosol and plasma membrane.

Subcellular locations from

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:0005737 cytoplasm 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


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

Transcripts for EHBP1 Gene

Unigene Clusters for EHBP1 Gene

EH domain binding protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - - - -
SP7: - - -

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

Relevant External Links for EHBP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EHBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:


SOURCE GeneReport for Unigene cluster for EHBP1 Gene:

genes like me logo Genes that share expression patterns with EHBP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia EHBP1 35 34
  • 99.73 (n)
(Canis familiaris)
Mammalia EHBP1 34 35
  • 94.28 (n)
(Bos Taurus)
Mammalia EHBP1 34 35
  • 92.53 (n)
(Mus musculus)
Mammalia Ehbp1 34 16 35
  • 87.99 (n)
(Monodelphis domestica)
Mammalia EHBP1 35
  • 87 (a)
(Rattus norvegicus)
Mammalia Ehbp1 34
  • 86.58 (n)
(Ornithorhynchus anatinus)
Mammalia EHBP1 35
  • 86 (a)
(Gallus gallus)
Aves EHBP1 34 35
  • 82.02 (n)
(Anolis carolinensis)
Reptilia EHBP1 35
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ehbp1 34
  • 71.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17139 34
(Danio rerio)
Actinopterygii ehbp1 34 35
  • 65.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 35
  • 30 (a)
(Caenorhabditis elegans)
Secernentea ehbp-1 35
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
-- 35
  • 37 (a)
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

Gene Tree for EHBP1 (if available)
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
rs1000856 -- 62,806,657(-) aagcc(A/T)agtgt intron-variant
rs10153716 -- 62,779,924(+) CATCA(A/G)TTCTT intron-variant
rs10165717 -- 62,675,335(+) CATCT(A/G)CCTCT intron-variant

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

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

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

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


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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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