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

SPESP1 Gene

protein-coding   GIFtS: 35
GCID: GC15P069112

Sperm Equatorial Segment Protein 1

  Search for SPESP1
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
Sperm Equatorial Segment Protein 11 2
Equatorial Segment Protein2 3
Glycosylated 38 KDa Sperm Protein C-7/82 3
ESP2 3
SP-ESP2 3

External Ids:    HGNC: 155701   Entrez Gene: 2467772   Ensembl: ENSG000002584847   OMIM: 6093995   UniProtKB: Q6UW493   

Export aliases for SPESP1 gene to outside databases

Previous GC identifers: GC00U990975 GC15P066802 GC15P066938 GC15P067010 GC15P067011 GC15P069224 GC15P046056


(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 SPESP1 Gene:
The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. (provided by RefSeq, Apr
2010)

GeneCards Summary for SPESP1 Gene: 
SPESP1 (sperm equatorial segment protein 1) is a protein-coding gene.




(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
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPESP1 gene promoter:
         RFX1   MIF-1   HNF-4alpha2   Evi-1   HNF-4alpha1   POU2F1   POU2F1b   POU2F1a   HOXA5   POU2F1c   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPESP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPESP1


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

Entrez Gene cytogenetic band: 15q23   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q22.31

SPESP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPESP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P069112:  view genomic region     (about GC identifiers)

Start:
69,110,560 bp from pter      End:
69,239,150 bp from pter
Size:
128,591 bases      Orientation:
plus 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.,
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About This Section

UniProtKB/Swiss-Prot: SPESP_HUMAN, Q6UW49 (See protein sequence)
Recommended Name: Sperm equatorial segment protein 1 precursor  
Size: 350 amino acids; 38931 Da
Subcellular location: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Small proacrosomal granules (during
the Golgi phase), enlarged acrosomal vesicles (during the cap phase), acrosome (during the elongating phase),
equatorial segment of the acrosome (during the maturation phase)
Secondary accessions: Q8NG22 Q8WVH8

Explore the universe of human proteins at neXtProt for SPESP1: NX_Q6UW49

Explore proteomics data for SPESP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UW49

  • SPESP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPESP1 Protein Expression
    REFSEQ proteins: NP_663633.1  
    ENSEMBL proteins: 
     ENSP00000312284  

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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:0001669acrosomal vesicle IEA--

    SPESP1 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
    1 InterPro protein domain:
     IPR026743 Equatorial_segment

    Graphical View of Domain Structure for InterPro Entry Q6UW49

    ProtoNet protein and cluster: Q6UW49

    UniProtKB/Swiss-Prot: SPESP_HUMAN, Q6UW49
    Similarity: Belongs to the SPESP1 family


    SPESP1 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

    Phenotypes:
         1 GenomeRNAi human phenotype for SPESP1:
     Increased homologous recombina 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Spesp1):
     reproductive system 

    SPESP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Spesp1tm1Osb for SPESP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPESP1 
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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 SPESP1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007340acrosome reaction IEA--
    GO:0007342fusion of sperm to egg plasma membrane IEA--

    SPESP1 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPESP1 (SPESP)

    Search CenterWatch for drugs/clinical trials and news about SPESP1 / SPESP

    (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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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPESP1 gene: 
    NM_145658.3  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560188 ENST00000310673(uc002arn.2) ENST00000561467
    miRNA
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    24/94 AceView cDNA sequences (see all 94):

    BQ215955 AI797949 CD107927 BE045942 AF325189 AW340601 AF353089 AY166601 
    AY358983 AI990773 BI826643 CR610432 AF325190 BC017998 AI652853 H52859 
    AF353088 BF434176 NM_145658 BM929516 BM564110 NM_024505 BU625703 BQ013471 

    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

    SPESP1 expression in normal human tissues (normalized intensities)      SPESP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPESP1 Expression
    About this image


    SPESP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Testis (Reproductive System)

    See SPESP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPESP1

    UniProtKB/Swiss-Prot: SPESP_HUMAN, Q6UW49
    Tissue specificity: Highly expressed in testis, where it is localized in the acrosome of postmeiotic stages of
    spermiogenesis (round and elongating spermatids and in ejaculated spermatozoa) (at protein level). Poorly
    expressed in placenta and fetal lung

        SABiosciences Custom PCR Arrays for SPESP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPESP1

    (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 SPESP1 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spesp11 , 5 sperm equatorial segment protein 11, 5 62.93(n)1
    50.91(a)1
      9 (33.65 cM)5
    667121  NM_025721.21  NP_079997.11 
     622707295 


    ENSEMBL Gene Tree for SPESP1 (if available)
    TreeFam Gene Tree for SPESP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    3 SNPs in SPESP1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0314304
    ----see VAR_0314302 L F mis40--------
    VAR_0569944
    ----see VAR_0569942 H Q mis40--------
    VAR_0237384
    ----see VAR_0237382 G E mis40--------

    HapMap Linkage Disequilibrium report for SPESP1 (69110560 - 69239150 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPESP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1584CNV Loss18451855

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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

    SPESP1 for disorders           About MalaCards
    OMIM gene information: 609399    OMIM disorders: --


    SPESP1 for disorders           About GeneDecksing


    Export disorders for SPESP1 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 SPESP1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with SPESP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Equatorial segment protein defines a discrete acrosomal subcompartment persisting throughout acrosomal biogenesis. (PubMed id 12773409)1, 2, 3, 9 Wolkowicz M.J.... Herr J.C. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    4. Equatorial segment protein (ESP) is a human alloantigen involved in sperm-egg binding and fusion. (PubMed id 17978344)1, 9 Wolkowicz M.J....Herr J.C. (2008)
    5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Immunogenicity of a multi-component recombinant human acrosomal protein vaccine in female Macaca fascicularis. (PubMed id 17643494)9 Kurth B.E....Herr J.C. (2008)
    10. Genogrouping and incidence of virulence factors of Enterococcus faecalis in liver transplant patients differ from blood culture and fecal isolates. (PubMed id 11930322)9 Waar K....Degener J.E. (2002)

    (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: 246777 HGNC: 15570 AceView: NOX5 Ensembl:ENSG00000258484 euGenes: HUgn246777
    ECgene: SPESP1 H-InvDB: SPESP1

    (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 SPESP1 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 SPESP1 gene:
    Search GeneIP for patents involving SPESP1

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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