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Aliases for SPESP1 Gene

Aliases for SPESP1 Gene

  • Sperm Equatorial Segment Protein 1 2 3 5
  • Glycosylated 38 KDa Sperm Protein C-7/8 3 4
  • Equatorial Segment Protein 3 4
  • SP-ESP 3 4
  • ESP 3 4

External Ids for SPESP1 Gene

Previous GeneCards Identifiers for SPESP1 Gene

  • GC00U990975
  • GC15P066802
  • GC15P066938
  • GC15P067010
  • GC15P067011
  • GC15P069224
  • GC15P046056
  • GC15P069112

Summaries for SPESP1 Gene

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. Diseases associated with SPESP1 include Andersen Cardiodysrhythmic Periodic Paralysis.

UniProtKB/Swiss-Prot for SPESP1 Gene

  • Involved in fertilization ability of sperm.

Additional gene information for SPESP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPESP1 Gene

Genomics for SPESP1 Gene

GeneHancer (GH) Regulatory Elements for SPESP1 Gene

Promoters and enhancers for SPESP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I068815 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.0 965 7.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ANP32A GC15P069450 SPESP1 SKOR1
GH15I068929 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.1 +112.4 112432 1.5 PKNOX1 ZNF687 MAZ RFX1 NRF1 MAX SIN3A MNT ZBTB40 ZNF592 ENSG00000137808 NOX5 SPESP1 GC15P069501
GH15I068275 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 11.3 -538.8 -538810 8.8 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ENSG00000260657 FEM1B SKOR1 IQCH-AS1 PIAS1 CORO2B MAP2K5 SPESP1 NOX5 GC15M068298
GH15I068729 Enhancer 0.9 Ensembl ENCODE 10.5 -87.6 -87568 2.1 CTCF KLF1 ZSCAN26 ZSCAN4 KLF17 ZNF384 RAD21 ZFHX2 GATA3 ARID2 ANP32A SPESP1 ENSG00000137808 NOX5 SKOR1 GC15P069484 GC15M068584
GH15I068899 Enhancer 0.7 ENCODE 12.3 +81.7 81686 1.4 SOX13 TFAP4 FOXA2 CEBPG ZNF644 THRB TEAD3 NR2F6 THAP11 GATAD2A ENSG00000137808 NOX5 SPESP1 ANP32A LOC390600
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPESP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPESP1 gene promoter:

Genomic Locations for SPESP1 Gene

Genomic Locations for SPESP1 Gene
chr15:68,818,221-68,946,811
(GRCh38/hg38)
Size:
128,591 bases
Orientation:
Plus strand
chr15:69,110,560-69,239,150
(GRCh37/hg19)

Genomic View for SPESP1 Gene

Genes around SPESP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPESP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPESP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPESP1 Gene

Proteins for SPESP1 Gene

  • Protein details for SPESP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW49-SPESP_HUMAN
    Recommended name:
    Sperm equatorial segment protein 1
    Protein Accession:
    Q6UW49
    Secondary Accessions:
    • Q8NG22
    • Q8WVH8

    Protein attributes for SPESP1 Gene

    Size:
    350 amino acids
    Molecular mass:
    38931 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPESP1 Gene

Post-translational modifications for SPESP1 Gene

  • Glycosylated. In testis there are two predominant forms of 77- and 67-kDa and a form of 47-kDa, whereas in epididymal sperm from caput, corpus, and cauda there are two forms of 47- and 43-kDa. Testis forms contain complex carbohydrate residues. Epididymal sperm forms are N-glycosylated. Then undergoes significant glycosylation in the testis and that the majority of these glycoconjugates are removed by the time sperm reach the caput epididymis.

Other Protein References for SPESP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPESP1 Gene

Domains & Families for SPESP1 Gene

Gene Families for SPESP1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SPESP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPESP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UW49

UniProtKB/Swiss-Prot:

SPESP_HUMAN :
  • Belongs to the SPESP1 family.
Family:
  • Belongs to the SPESP1 family.
genes like me logo Genes that share domains with SPESP1: view

Function for SPESP1 Gene

Molecular function for SPESP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in fertilization ability of sperm.
genes like me logo Genes that share phenotypes with SPESP1: view

Animal Models for SPESP1 Gene

MGI Knock Outs for SPESP1:

miRNA for SPESP1 Gene

miRTarBase miRNAs that target SPESP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPESP1 Gene

Localization for SPESP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPESP1 Gene

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) (PubMed:12773409). After acrosome reaction localizes to the equatorial segment region in both noncapacitated and capacitated, acrosome-reacted sperm (By similarity). {ECO:0000250 UniProtKB:Q9D5A0, ECO:0000269 PubMed:12773409}.

Gene Ontology (GO) - Cellular Components for SPESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with SPESP1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SPESP1 Gene

Pathways & Interactions for SPESP1 Gene

SuperPathways for SPESP1 Gene

No Data Available

Interacting Proteins for SPESP1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312284%0d%0a9606.ENSP00000269305%0d%0a9606.ENSP00000428924%0d%0a
Selected Interacting proteins: Q6UW49-SPESP_HUMAN ENSP00000312284 for SPESP1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SPESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007340 acrosome reaction IBA --
GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization IBA --
GO:0009566 fertilization ISS --
GO:0035036 sperm-egg recognition ISS --
genes like me logo Genes that share ontologies with SPESP1: view

No data available for Pathways by source and SIGNOR curated interactions for SPESP1 Gene

Drugs & Compounds for SPESP1 Gene

No Compound Related Data Available

Transcripts for SPESP1 Gene

mRNA/cDNA for SPESP1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPESP1 Gene

No ASD Table

Relevant External Links for SPESP1 Gene

GeneLoc Exon Structure for
SPESP1
ECgene alternative splicing isoforms for
SPESP1

Expression for SPESP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPESP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPESP1 Gene

This gene is overexpressed in Testis (x17.8).

Protein differential expression in normal tissues from HIPED for SPESP1 Gene

This gene is overexpressed in Testis (44.8) and Heart (24.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPESP1 Gene



Protein tissue co-expression partners for SPESP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPESP1 Gene:

SPESP1

mRNA Expression by UniProt/SwissProt for SPESP1 Gene:

Q6UW49-SPESP_HUMAN
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.

Evidence on tissue expression from TISSUES for SPESP1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with SPESP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPESP1 Gene

Orthologs for SPESP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPESP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPESP1 34 33
  • 99.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPESP1 33 34
  • 78.31 (n)
dog
(Canis familiaris)
Mammalia SPESP1 33 34
  • 78.02 (n)
rat
(Rattus norvegicus)
Mammalia Spesp1 33
  • 60.74 (n)
mouse
(Mus musculus)
Mammalia Spesp1 34 16 33
  • 59.21 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPESP1 34
  • 28 (a)
OneToOne
Species where no ortholog for SPESP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPESP1 Gene

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

Paralogs for SPESP1 Gene

No data available for Paralogs for SPESP1 Gene

Variants for SPESP1 Gene

Sequence variations from dbSNP and Humsavar for SPESP1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000107522 -- 68,944,900(+) CTCT/CT intron_variant
rs1000132071 -- 68,939,082(+) G/A intron_variant
rs1000145988 -- 68,929,681(+) T/C upstream_transcript_variant
rs1000342206 -- 68,942,500(+) C/T intron_variant
rs1000415861 -- 68,942,231(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPESP1 Gene

Variant ID Type Subtype PubMed ID
nsv1584 CNV deletion 18451855

Variation tolerance for SPESP1 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPESP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPESP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPESP1 Gene

Disorders for SPESP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPESP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
andersen cardiodysrhythmic periodic paralysis
  • andersen syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPESP1

genes like me logo Genes that share disorders with SPESP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPESP1 Gene

Publications for SPESP1 Gene

  1. Equatorial segment protein defines a discrete acrosomal subcompartment persisting throughout acrosomal biogenesis. (PMID: 12773409) Wolkowicz MJ … Herr JC (Biology of reproduction 2003) 2 3 4 22 58
  2. Equatorial segment protein (ESP) is a human alloantigen involved in sperm-egg binding and fusion. (PMID: 17978344) Wolkowicz MJ … Herr JC (Journal of andrology 2008) 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J … Elledge SJ (Nature biotechnology 2013) 3 58

Products for SPESP1 Gene

Sources for SPESP1 Gene

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