The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010] See more...

Aliases for SPESP1 Gene

Aliases for SPESP1 Gene

  • Sperm Equatorial Segment Protein 1 2 3 4 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 Slate Pneumoconiosis and Pulmonary Coin Lesion.

UniProtKB/Swiss-Prot Summary for SPESP1 Gene

Additional gene information for SPESP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J068815 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.9 889 7.4 HNRNPK ZNF217 SIN3A NRF1 TCF12 MYC POLR2G USF1 SP1 NCOR1 ANP32A SPESP1 lnc-CORO2B-1-001 lnc-ITGA11-6 SKOR1
GH15J068929 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 +112.6 112632 1.9 ZFX POLR2A RFX1 SIN3A ZNF592 MYC PKNOX1 FOXP2 MAZ ZBTB40 ENSG00000137808 ENSG00000285919 NOX5 SPESP1 MG828730-023 piR-53431-217
GH15J068275 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -538.9 -538910 8.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 ENSG00000260657 FEM1B SKOR1 IQCH-AS1 PIAS1 CORO2B MAP2K5 SPESP1 NOX5 lnc-CLN6-27
GH15J068777 Enhancer 0.8 Ensembl ENCODE dbSUPER 10.7 -41.8 -41820 2.4 POLR2A TARDBP POLR2G RBM22 NR2F2 SUPT5H PAF1 BCL3 ANP32A SPESP1 ENSG00000137808 NOX5 lnc-ITGA11-3 CARS1P1 ENSG00000271232
GH15J068516 Enhancer 0.8 Ensembl ENCODE dbSUPER 10.6 -300.3 -300320 3 EZH2 CTCF SPI1 ZFHX2 EGR1 MAX CREB1 EBF1 SPESP1 ENSG00000137808 NOX5 HSALNG0106803 CORO2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPESP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPESP1

Top Transcription factor binding sites by QIAGEN in the SPESP1 gene promoter:
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA5
  • MIF-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RFX1

Genomic Locations for SPESP1 Gene

Genomic Locations for SPESP1 Gene
128,591 bases
Plus strand
128,591 bases
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:
    Recommended name:
    Sperm equatorial segment protein 1
    Protein Accession:
    Secondary Accessions:
    • Q8NG22
    • Q8WVH8

    Protein attributes for SPESP1 Gene

    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.
  • Glycosylation at Asn128
  • Modification sites at PhosphoSitePlus

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 intracellular proteins

Protein Domains for SPESP1 Gene


Suggested Antigen Peptide Sequences for SPESP1 Gene

GenScript: Design optimal peptide antigens:
  • Glycosylated 38 kDa sperm protein C-7/8 (SPESP_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SPESP1 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:

Animal Model Products

CRISPR Products

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}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPESP1 gene
Compartment Confidence
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SPESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA 21873635
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with SPESP1: view

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

Pathways & Interactions for SPESP1 Gene

PathCards logo

SuperPathways for SPESP1 Gene

No Data Available

Interacting Proteins for SPESP1 Gene


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 21873635
GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization IBA 21873635
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

5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for SPESP1 Gene

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

Protein tissue co-expression partners for SPESP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPESP1

mRNA Expression by UniProt/SwissProt for SPESP1 Gene:

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
(Pan troglodytes)
Mammalia SPESP1 31 30
  • 99.12 (n)
(Bos Taurus)
Mammalia SPESP1 31 30
  • 78.31 (n)
(Canis familiaris)
Mammalia SPESP1 31 30
  • 78.02 (n)
(Rattus norvegicus)
Mammalia Spesp1 30
  • 60.74 (n)
(Mus musculus)
Mammalia Spesp1 17 31 30
  • 59.21 (n)
(Ornithorhynchus anatinus)
Mammalia SPESP1 31
  • 28 (a)
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

Gene Tree for SPESP1 (if available)
Gene Tree for SPESP1 (if available)
Evolutionary constrained regions (ECRs) for SPESP1: view image

Paralogs for SPESP1 Gene

No data available for Paralogs for SPESP1 Gene

Variants for SPESP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPESP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs16952684 - p.His134Gln
rs3743091 - p.Leu133Phe
rs3743093 - p.Gly191Glu

Additional dbSNP identifiers (rs#s) for SPESP1 Gene

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

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

Disorders for SPESP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
slate pneumoconiosis
  • schistosis
pulmonary coin lesion
  • coin lesion lung
plethora of newborn
  • neonatal polycythemia
endocardium disease
  • abnormality of the endocardium
chiasmal syndrome
  • chiasma 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 23 54
  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 23 54
  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 54
  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 54
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J … Elledge SJ (Nature biotechnology 2013) 3 54

Products for SPESP1 Gene

Sources for SPESP1 Gene