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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ELSPBP1 Gene

protein-coding   GIFtS: 50
GCID: GC19P048497

epididymal sperm binding protein 1

 Explore 5 diseases affiliated with
ELSPBP1 via our new
 Human Malady Compendium 
Biological research products
for ELSPBP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Epididymal Sperm Binding Protein 11 2     Epididymal Secretory Protein 122 3
E121 2 3     Epididymal Protein 122
EDDM121 2     Epididymal Sperm-Binding Protein 12
HE121 2     HE121 2

External Ids:    HGNC: 144171   Entrez Gene: 641002   Ensembl: ENSG000001693937   OMIM: 6074435   UniProtKB: Q96BH33   

Export aliases for ELSPBP1 gene to outside databases

Previous GC identifers: GC19P049144 GC19P048866 GC19P053173 GC19P053189 GC19P044879


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ELSPBP1:
The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its
canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains
in the Fn2-module protein family. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ESPB1_HUMAN, Q96BH3
Function: Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has
phosphorylcholine-binding activity (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ELSPBP1 gene promoter:
         C/EBPbeta   SRF (504 AA)   p300   NF-kappaB   POU2F1   POU2F1a   FOXJ2 (long isoform)   Cart-1   FOXJ2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELSPBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ELSPBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ELSPBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

ELSPBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELSPBP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P048497:  view genomic region     (about GC identifiers)

Start:
48,497,908 bp from pter      End:
48,528,410 bp from pter
Size:
30,503 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ESPB1_HUMAN, Q96BH3 (See protein sequence)
Recommended Name: Epididymal sperm-binding protein 1 precursor  
Size: 223 amino acids; 26106 Da
Subcellular location: Secreted
Sequence caution: Sequence=CAC14267.1; Type=Frameshift; Positions=9;
Secondary accessions: Q96RT0 Q9H4C8

Explore the universe of human proteins at neXtProt for ELSPBP1: NX_Q96BH3

Post-translational modifications:

  • N-glycosylated1
  • View neXtProt modification sites for NX_Q96BH3

  • ELSPBP1 Protein expression data from MOPED and PaxDb:    About this image 
    ELSPBP1 Protein Expression
    REFSEQ proteins: NP_071425.3  
    ENSEMBL proteins: 
     ENSP00000340660  

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    Uscn Proteins for ELSPBP1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    ELSPBP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ELSPBP1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ELSPBP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013806 Kringle-like
     IPR000562 FN_type2_col-bd

    Graphical View of Domain Structure for InterPro Entry Q96BH3

    ProtoNet protein and cluster: Q96BH3

    1 Blocks protein family: IPB000562 Type II fibronectin collagen-binding domain

    UniProtKB/Swiss-Prot: ESPB1_HUMAN, Q96BH3
    Similarity: Belongs to the seminal plasma protein family
    Similarity: Contains 4 fibronectin type-II domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESPB1_HUMAN, Q96BH3
    Function: Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has
    phosphorylcholine-binding activity (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ELSPBP1 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    Signaling Involved in Cardiac Hypertrophy0.42
    2miRs in Muscle Cell Differentiation
    miRs in Muscle Cell Differentiation1.00

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ELSPBP1
        NFAT and Cardiac Hypertrophy
    Signaling Involved in Cardiac Hypertrophy

    1 BioSystems Pathway for ELSPBP1 
        miRs in Muscle Cell Differentiation


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ELSPBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for ELSPBP1 (Q96BH33 ENSP000003406604) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ID3Q025353, ENSP000003636894I2D: score=1 STRING: ENSP00000363689
    MYF6P234093, ENSP000002286414I2D: score=1 STRING: ENSP00000228641
    MYOD1P151723, ENSP000002500034I2D: score=1 STRING: ENSP00000250003
    NEDD9Q145113, ENSP000003687594I2D: score=1 STRING: ENSP00000368759
    MYF5P133493, ENSP000002286444I2D: score=1 STRING: ENSP00000228644
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007338single fertilization IEA--

    ELSPBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ELSPBP1

    1 HMDB Compound for ELSPBP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphorylcholineCholine phosphate (see all 5)3616-04-4--

    1 DrugBank Compound for ELSPBP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphocholine-- 107-73-3target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about ELSPBP1 / ESPB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ELSPBP1 gene: 
    NM_022142.4  

    Unigene Cluster for ELSPBP1:

    Epididymal sperm binding protein 1
    Hs.104894  [show with all ESTs]
    Unigene Representative Sequence: NM_022142
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000339841(uc002pht.3)

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    hsa-miR-100*
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    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against ELSPBP1 
    Clone
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    Additional cDNA sequence: 

    AF279147.1 AJ278478.1 BC015598.2 

    3 DOTS entries:

    DT.408189  DT.92417588  DT.92417589 

    19 AceView cDNA sequences:

    BM690865 BC015598 BM663735 NM_022142 AF279147 AA336014 AA428554 AW593247 
    AA913839 BM661759 BG478994 BX094593 AA868848 AA429491 AJ278478 AW592011 
    AA724454 AI190145 AI125345 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ELSPBP1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                      
    SP2:                    -     -     -                     
    SP3:                    -                                 


    ECgene alternative splicing isoforms for ELSPBP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ELSPBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATAAGGATG
    ELSPBP1 Expression
    About this image
    See ELSPBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ELSPBP1

    SOURCE GeneReport for Unigene cluster: Hs.104894

    UniProtKB/Swiss-Prot: ESPB1_HUMAN, Q96BH3
    Tissue specificity: Detected in cauda epididymidal fluid and on sperm membrane (at protein level)

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ELSPBP1 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    42(a)
    1 ↔ 1
    GL343253.1(318758-332387)
            Species with no ortholog for ELSPBP1

    ENSEMBL Gene Tree for ELSPBP1 (if available)
    TreeFam Gene Tree for ELSPBP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ELSPBP1 gene
    BSPH12  
    1 SIMAP similar gene for ELSPBP1 using alignment to 5 protein entries:     ESPB1_HUMAN (see all proteins):
    BSPH1

    ELSPBP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/831 NCBI SNPs in ELSPBP1 are shown (see all 831    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462941741,2
    --48496018(+) CACAGC/TGGCTC 2 -- us2k10--------
    rs1395319941,2
    C--48496255(+) GAGACC/TCCCCA 2 -- us2k10--------
    rs1857918051,2
    --48496343(+) GGTAGA/GAGGAT 2 -- us2k10--------
    rs104202671,2
    C,F,A,H--48496350(+) ggatcA/Gtttga 2 -- us2k18Minor allele frequency- G:0.47NA CSA 15
    rs1894659211,2
    --48496389(+) ATCATC/TGCACC 2 -- us2k10--------
    rs1506937401,2
    --48496390(+) TCATCA/GCACCA 2 -- us2k10--------
    rs1118296051,2
    C--48496474(+) CTCCAT/-TTTTT 2 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs1173368101,2
    --48496682(+) CTTTTT/CTCTTT 2 -- us2k11Minor allele frequency- C:0.01NA 120
    rs2012328791,2
    --48496705(+) TTCTT-/TCCTTCTT 2 -- us2k10--------
    rs355987031,2
    --48496707(+) TCTTTA/C/TCTTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ELSPBP1 (48497908 - 48528410 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ELSPBP1
         3 CNVs: 47965 5105 32261

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ELSPBP1 for disorders           About GeneDecksing

    OMIM gene information: 607443    OMIM disorders: --

    5 diseases for ELSPBP1:    About MalaCards
    epididymitis    axenfeld-rieger syndrome    inferior myocardial infarction    hemorrhagic disease
    myocardial infarction


    Export disorders for ELSPBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ELSPBP1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with ELSPBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related. (PubMed id 17307309)1, 2 Ekhlasi-Hundrieser M.... Toepfer-Petersen E. (2007)
    2. Novel sperm-binding proteins of epididymal origin contain four fibronectin type II-modules. (PubMed id 11144225)1, 2 Saalmann A.... Kirchhoff C. (2001)
    3. Genome-wide association study of intelligence: additiv e effects of novel brain expressed genes. (PubMed id 22449649)1 Loo S.K....Nelson S.F. (2012)
    4. The TWIST/Mi2/NuRD protein complex and its essential r ole in cancer metastasis. (PubMed id 20714342)1 Fu J....Xu J. (2011)
    5. Identification of RANBP16 and RANBP17 as novel intera ction partners for the bHLH transcription factor E12. (PubMed id 20503194)1 Lee J.H....Smas C.M. (2010)
    6. Scleraxis and E47 cooperatively regulate the Sox9-dep endent transcription. (PubMed id 19828133)1 Furumatsu T....Ozaki T. (2010)
    7. The core binding factor CBF negatively regulates skel etal muscle terminal differentiation. (PubMed id 20195544)1 Philipot O....Ait-Si-Ali S. (2010)
    8. Oxidative stress drives disulfide bond formation betw een basic helix-loop-helix transcription factors. (PubMed id 19950203)1 Danciu T.E. and Whitman M. (2010)
    9. Assembly of the oncogenic DNA-binding complex LMO2-Ldb1-TAL1-E12. (PubMed id 17910069)1 Ryan D.P....Matthews J.M. (2008)
    10. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64100 HGNC: 14417 AceView: ELSPBP1 Ensembl:ENSG00000169393 euGenes: HUgn64100
    ECgene: ELSPBP1 H-InvDB: ELSPBP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ELSPBP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ELSPBP1 gene:
    Search GeneIP for patents involving ELSPBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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