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] See more...

Aliases for EHBP1 Gene

Aliases for EHBP1 Gene

  • EH Domain Binding Protein 1 2 3 5
  • EH Domain-Binding Protein 1 3 4
  • NACSIN 3 4
  • Testis Tissue Sperm-Binding Protein Li 50e 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 Bardet-Biedl Syndrome 7. An important paralog of this gene is EHBP1L1.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for EHBP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EHBP1 Gene

Genomics for EHBP1 Gene

GeneHancer (GH) Regulatory Elements for EHBP1 Gene

Promoters and enhancers for EHBP1 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 EHBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EHBP1

Top Transcription factor binding sites by QIAGEN in the EHBP1 gene promoter:
  • ATF6
  • Cdc5
  • HNF-4alpha1
  • IRF-7A
  • SRF
  • SRF (504 AA)

Genomic Locations for EHBP1 Gene

Genomic Locations for EHBP1 Gene
chr2:62,673,851-63,046,487
(GRCh38/hg38)
Size:
372,637 bases
Orientation:
Plus strand
chr2:62,900,986-63,273,622
(GRCh37/hg19)
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

Gene Families for EHBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EHBP1 Gene

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

Suggested Antigen Peptide Sequences for EHBP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10124 fis, clone HEMBA1002951, highly similar to Homo sapiens EH domain binding protein 1 (EHBP1), mRNA (B3KM32_HUMAN)
  • EH domain-binding protein 1 (EHBP1_HUMAN)

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 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

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).

Phenotypes From GWAS Catalog for EHBP1 Gene

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

Clone 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
nucleus 5
cytosol 5
cytoskeleton 4
endosome 4
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005815 microtubule organizing center IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with EHBP1: view

Pathways & Interactions for EHBP1 Gene

PathCards logo

SuperPathways for EHBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
GO:0030036 actin cytoskeleton organization IBA 21873635
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

mRNA/cDNA for EHBP1 Gene

15 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for EHBP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , 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 31 30
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EHBP1 31 30
  • 94.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EHBP1 31 30
  • 92.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ehbp1 17 31 30
  • 87.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EHBP1 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehbp1 30
  • 86.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHBP1 31 30
  • 82.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHBP1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehbp1 30
  • 71.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17139 30
zebrafish
(Danio rerio)
Actinopterygii ehbp1 31 30
  • 65.64 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 31
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehbp-1 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EHBP1: view image

Paralogs for EHBP1 Gene

Paralogs for EHBP1 Gene

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

  • EHBP1_HUMAN
  • B5MC86_HUMAN
  • C9IYU2_HUMAN
  • C9J268_HUMAN
  • C9JEP1_HUMAN
  • C9K0H9_HUMAN
  • H7BZ98_HUMAN
  • H7C0Q4_HUMAN
  • H7C1E6_HUMAN
genes like me logo Genes that share paralogs with EHBP1: view

Variants for EHBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EHBP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
779224 Benign: not provided 62,747,391(+) G/C INTRON_VARIANT
rs721048 Pathogenic: Prostate cancer, hereditary, 12 62,904,596(+) G/A INTRON_VARIANT
VAR_035913 A breast cancer sample p.Arg395Thr
rs17432615 - p.Lys755Gln

Additional dbSNP identifiers (rs#s) for EHBP1 Gene

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)

Additional Variant Information for EHBP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EHBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
prostate cancer, hereditary, 12
  • hpc12
bardet-biedl syndrome 7
  • bbs7
prostate cancer
  • prostate cancer, somatic
aortic valve disease 1
  • aovd1
- 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.

Additional Disease Information for EHBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (Nature genetics 2008) 3 4 41 54
  2. EHD2 and the novel EH domain binding protein EHBP1 couple endocytosis to the actin cytoskeleton. (PMID: 14676205) Guilherme A … Czech MP (The Journal of biological chemistry 2004) 3 4 23 54
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  4. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H … Han C (The Prostate 2011) 3 41 54
  5. Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer. (PMID: 20878950) Sun J … Xu J (The Prostate 2011) 3 41 54

Products for EHBP1 Gene

Sources for EHBP1 Gene