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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
  • 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 SMTNL2.

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

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 EHD2.
    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

Proteomics data for EHBP1 Gene at MOPED

Post-translational modifications for EHBP1 Gene

  • Ubiquitination at Lys 763
  • 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 :
  • Contains 1 CH (calponin-homology) domain.
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

In Situ Assay 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

COMPARTMENTS
Jensen Localization Image for EHBP1 Gene COMPARTMENTS Subcellular localization image for EHBP1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for EHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
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

None

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:

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 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, MOPED, and MaxQB for EHBP1 Gene



SOURCE GeneReport for Unigene cluster for EHBP1 Gene Hs.271667

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

Protein tissue co-expression partners for EHBP1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia EHBP1 35
  • 92.53 (n)
  • 93.5 (a)
EHBP1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHBP1 35
  • 94.28 (n)
  • 95.77 (a)
EHBP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehbp1 35
  • 87.99 (n)
  • 90.23 (a)
Ehbp1 16
Ehbp1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHBP1 35
  • 99.73 (n)
  • 99.76 (a)
EHBP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehbp1 35
  • 86.58 (n)
  • 90.21 (a)
oppossum
(Monodelphis domestica)
Mammalia EHBP1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHBP1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHBP1 35
  • 82.02 (n)
  • 84.99 (a)
EHBP1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHBP1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehbp1 35
  • 71.41 (n)
  • 73.04 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17139 35
zebrafish
(Danio rerio)
Actinopterygii ehbp1 35
  • 65.64 (n)
  • 69.78 (a)
ehbp1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ehbp1 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehbp-1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
Species with no ortholog for EHBP1:
  • 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
rs17432615 - 62,949,004(+) TCAAA(A/C)AAACA intron-variant, reference, missense
VAR_035913 A breast cancer sample
rs189671 -- 62,732,173(+) tttga(A/T)tttct intron-variant
rs181723 -- 62,685,556(+) cacct(A/G)ccgac intron-variant
rs360786 -- 62,734,747(+) tttGT(A/G)TATGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
dgv60n68 CNV Gain 17160897
nsv874232 CNV Gain 21882294
esv2720133 CNV Deletion 23290073
esv2720134 CNV Deletion 23290073
esv2589354 CNV Insertion 19546169
esv1123705 CNV Insertion 17803354
nsv874233 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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
  • 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

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 48 67
  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 23
  3. Role of EHD1 and EHBP1 in perinuclear sorting and insulin-regulated GLUT4 recycling in 3T3-L1 adipocytes. (PMID: 15247266) Guilherme A. … Czech M.P. (J. Biol. Chem. 2004) 3 23
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for EHBP1 Gene

Sources for EHBP1 Gene

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