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

BSPH1 Gene

protein-coding   GIFtS: 32
GCID: GC19M048471

Binder Of Sperm Protein Homolog 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Binder Of Sperm Protein Homolog 11 2     BSP12
Bovine Seminal Plasma Protein Homolog 11 2 3     ELSPBP22
Epididymal Sperm Binding Protein 21 2     Binder Of Sperm 12
Bovine Seminal Plasma Protein-Like 12 3     

External Ids:    HGNC: 339061   Entrez Gene: 1001311372   Ensembl: ENSG000001883347   OMIM: 6122135   UniProtKB: Q075Z23   

Export aliases for BSPH1 gene to outside databases

Previous GC identifers: GC19M053163 GC19M044853


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

GeneCards Summary for BSPH1 Gene: 
BSPH1 (binder of sperm protein homolog 1) is a protein-coding gene. Diseases associated with BSPH1 include diffuse cutaneous mastocytosis, and cutaneous mastocytosis.

UniProtKB/Swiss-Prot: BSPH1_HUMAN, Q075Z2
Function: May play a role in sperm capacitation




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BSPH1 gene promoter:
         Nkx3-1   Nkx3-1 v4   GR-beta   POU3F1   Nkx3-1 v1   GATA-1   GATA-2   Nkx3-1 v2   Nkx3-1 v3   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BSPH1


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: 19q13.32

BSPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BSPH1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M048471:  view genomic region     (about GC identifiers)

Start:
48,471,303 bp from pter      End:
48,495,427 bp from pter
Size:
24,125 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BSPH1_HUMAN, Q075Z2 (See protein sequence)
Recommended Name: Binder of sperm protein homolog 1 precursor  
Size: 132 amino acids; 15693 Da
Subcellular location: Secreted (Probable)
Secondary accessions: A6NIZ5

Explore the universe of human proteins at neXtProt for BSPH1: NX_Q075Z2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q075Z2

  • BSPH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001121798.1  
    ENSEMBL proteins: 
     ENSP00000341762  

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    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--

    BSPH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013806 Kringle-like
     IPR000562 FN_type2_col-bd

    Graphical View of Domain Structure for InterPro Entry Q075Z2

    ProtoNet protein and cluster: Q075Z2

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

    UniProtKB/Swiss-Prot: BSPH1_HUMAN, Q075Z2
    Similarity: Belongs to the seminal plasma protein family
    Similarity: Contains 2 fibronectin type-II domains


    BSPH1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BSPH1_HUMAN, Q075Z2
    Function: May play a role in sperm capacitation

    Animal Models:

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BSPH1

    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--

    BSPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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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    Search CenterWatch for drugs/clinical trials and news about BSPH1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for BSPH1 gene: 
    NM_001128326.2  

    Unigene Cluster for BSPH1:

    Binder of sperm protein homolog 1
    Hs.651072
    Unigene Representative Sequence: DQ227497
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000344839(uc002phs.1)
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    Additional mRNA sequence: DQ227497.1 
    GeneLoc Exon Structure


    (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

    BSPH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCTTCAG
    BSPH1 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.651072

    UniProtKB/Swiss-Prot: BSPH1_HUMAN, Q075Z2
    Tissue specificity: Expressed only in the epididymis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSPH1

    (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 human and mouse.

    Orthologs for BSPH1 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bsph11 , 5 binder of sperm protein homolog 11, 5 71.9(n)1
    62.75(a)1
      7 (7.89 cM)5
    3304701  NM_001033418.31  NP_001028590.11 
     134508415 


    ENSEMBL Gene Tree for BSPH1 (if available)
    TreeFam Gene Tree for BSPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BSPH1 gene
    2 SIMAP similar genes for BSPH1 using alignment to 1 protein entry:     BSPH1_HUMAN:
    EL149    ELSPBP1

    BSPH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/680 SNPs in BSPH1 are shown (see all 680)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928730661,2
    --48470924(+) TGAATA/GCCTCA 1 -- ds50010--------
    rs1853136581,2
    --48470964(+) TTTCTC/TCAAAA 1 -- ds50010--------
    rs1139279691,2
    F--48471012(+) ACATAC/TGAATT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs104057611,2
    C,F,A,H--48471109(+) TTGCTT/AGGAAA 1 -- ds500127Minor allele frequency- A:0.30NS EA NA WA 2902
    rs1886351911,2
    --48471126(+) TTATAC/TGTCAA 1 -- ds50010--------
    rs1173819931,2
    C,F--48471162(+) AGTCAT/CTGATT 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1414882501,2
    --48471169(+) GATTCC/TTGTGG 1 -- ds50010--------
    rs1508196371,2
    --48471170(+) ATTCCC/TGTGGC 1 -- ds50010--------
    rs1383139141,2
    --48471215(+) TGCCCA/GAAGGA 1 -- ds50010--------
    rs754551691,2
    F--48471362(+) GACCAT/CTCTGA 1 -- ut311Minor allele frequency- C:0.01EA 120

    HapMap Linkage Disequilibrium report for BSPH1 (48471303 - 48495427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BSPH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660721CNV Deletion23128226
    esv2718670CNV Deletion23290073
    nsv180CNV Insertion15895083
    nsv2515CNV Insertion18451855
    nsv2513CNV Loss18451855
    nsv912216CNV Loss21882294
    nsv833853CNV Loss17160897
    nsv428367CNV Gain+Loss18775914
    nsv9739CNV Gain+Loss18304495

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612213    OMIM disorders: --

    7 diseases for BSPH1:    About MalaCards
    diffuse cutaneous mastocytosis    cutaneous mastocytosis    mastocytosis    epididymitis
    chronic myeloid leukemia    myeloid leukemia    leukemia


    BSPH1 for disorders           About GeneDecksing


    Export disorders for BSPH1 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 BSPH1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with BSPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and tissue-specific expression of human and mouse genes encoding homologues of the major bovine seminal plasma proteins. (PubMed id 17085770)1, 2, 3 Lefebvre J....Manjunath P. (2007)
    2. New Nomenclature for Mammalian BSP Genes. (PubMed id 18923155)1, 3 Manjunath P....Wright M.W. (2008)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    4. Recombinant expression and affinity purification of a novel epididymal human sperm-binding protein, BSPH1. (PubMed id 19091820)1 Lefebvre J....Manjunath P. (2009)

    (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: 100131137 HGNC: 33906 Ensembl:ENSG00000188334 euGenes: HUgn100131137 ECgene: BSPH1
    H-InvDB: BSPH1

    (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 BSPH1 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 BSPH1 gene:
    Search GeneIP for patents involving BSPH1

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Biologicals
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     Search for Antibodies for BSPH1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for BSPH1
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     Browse Proteins at Cloud-Clone Corp.
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     Search LifeMap BioReagents cell lines for BSPH1
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     Search ThermoFisher Antibodies for BSPH1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BSPH1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for BSPH1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BSPH1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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