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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 Syndrome.

Additional gene information for SPESP1 Gene

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

Genomics for SPESP1 Gene

Regulatory Elements for SPESP1 Gene

Enhancers for SPESP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H068777 1 Ensembl ENCODE dbSUPER 10.7 -42.2 -42179 1 PAF1 POLR2A NR2F2 ANP32A SPESP1 ENSG00000137808 NOX5 CARSP1 MIR4312
GH15H068729 1 Ensembl ENCODE 10.5 -87.6 -87568 2 CTCF KLF1 ZSCAN26 ZSCAN4 KLF17 ZNF384 RAD21 ZFHX2 GATA3 SMC3 ANP32A SPESP1 ENSG00000137808 NOX5 SKOR1 GC15P068946 GC15M068584
GH15H069012 0.9 dbSUPER 11 +197.8 197841 7 HDAC1 ZFP64 ZNF766 SCRT2 ATF7 EGR2 MCM3 SP5 CEBPB ZEB2 PIAS1 KIF23 NOX5 ENSG00000137808 SPESP1 PIR33809 GC15P068965
GH15H068899 0.8 ENCODE 12.3 +81.7 81686 1 SOX13 TFAP4 FOXA2 CEBPG ZNF644 THRB TEAD3 NR2F6 THAP11 GATAD2A NOX5 ENSG00000137808 SPESP1 ANP32A LOC390600
GH15H068516 0.8 ENCODE dbSUPER 10.6 -300.7 -300675 1 CTCF ZFHX2 EGR1 POLR2A SPESP1 ENSG00000137808 NOX5 GC15M068493 CORO2B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPESP1 on UCSC Golden Path with GeneCards custom track

Promoters for SPESP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000078563 1479 5401 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for SPESP1 Gene

Chromosome:
15
Start:
68,818,221 bp from pter
End:
68,946,811 bp from pter
Size:
128,591 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Animal Models for SPESP1 Gene

MGI Knock Outs for SPESP1:

Animal Model Products

CRISPR Products

miRNA for SPESP1 Gene

miRTarBase miRNAs that target SPESP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPESP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , 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).

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: ENSP00000312284 Q6UW49-SPESP_HUMAN for SPESP1 Gene via STRING IID

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 IBA --
GO:0035036 sperm-egg recognition IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPESP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 33 34
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia SPESP1 33 34
  • 78.31 (n)
dog
(Canis familiaris)
Mammalia SPESP1 34 33
  • 78.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spesp1 33
  • 60.74 (n)
mouse
(Mus musculus)
Mammalia Spesp1 33 16 34
  • 59.21 (n)
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 Sequence Context AA Info Type
rs1000107522 -- 68,944,900(+) GGAAA(-/CT)CTGAT intron-variant
rs1000132071 -- 68,939,082(+) GAAGT(A/G)CAGGC intron-variant
rs1000145988 -- 68,929,681(+) TATTT(C/T)TAGTA upstream-variant-2KB
rs1000342206 -- 68,942,500(+) GTATT(C/T)TTATC intron-variant
rs1000415861 -- 68,942,231(+) TTATA(G/T)CTTCT 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)

Relevant External Links 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 syndrome
  • andersen-tawil syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPESP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  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 60
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J … Elledge SJ (Nature biotechnology 2013) 3 60

Products for SPESP1 Gene

Sources for SPESP1 Gene

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