Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ELSPBP1 Gene

Aliases for ELSPBP1 Gene

  • Epididymal Sperm Binding Protein 1 2 3 5
  • Epididymal Secretory Protein 12 3 4
  • Epididymal Protein 12 2 3
  • HE12 3 4
  • E12 3 4
  • Epididymis Luminal Secretory Protein 149 3
  • Epididymal Sperm-Binding Protein 1 3
  • EDDM12 3
  • EL149 3

External Ids for ELSPBP1 Gene

Previous GeneCards Identifiers for ELSPBP1 Gene

  • GC19P049144
  • GC19P048866
  • GC19P053173
  • GC19P053189
  • GC19P048497
  • GC19P044879

Summaries for ELSPBP1 Gene

Entrez Gene Summary for ELSPBP1 Gene

  • The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]

GeneCards Summary for ELSPBP1 Gene

ELSPBP1 (Epididymal Sperm Binding Protein 1) is a Protein Coding gene. Among its related pathways are NFAT and Cardiac Hypertrophy and miRs in Muscle Cell Differentiation. An important paralog of this gene is MMP19.

UniProtKB/Swiss-Prot for ELSPBP1 Gene

  • Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELSPBP1 Gene

Genomics for ELSPBP1 Gene

Regulatory Elements for ELSPBP1 Gene

Enhancers for ELSPBP1 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
GH19G047991 0.8 FANTOM5 131.4 -3.3 -3291 0.2 HDGF ZSCAN18 MAX NFXL1 ZFHX2 ZNF366 POLR2A ZNF600 EGR2 ZNF263 ELSPBP1 BSPH1 GC19M047959
GH19G047963 0.8 ENCODE 11.6 -31.3 -31302 0.2 PKNOX1 ZNF2 RAD21 ZEB1 ZNF335 GATA2 SCRT2 ZNF143 MIXL1 ZNF654 BSPH1 PLA2G4C ELSPBP1 CABP5 SULT2A1 LMTK3 SYNGR4 TMEM143 SNAR-C1 GC19M047959
GH19G048267 0.7 ENCODE 9.6 +272.5 272549 0.2 CTCF KLF1 ZNF2 RAD21 RFX5 FOXK2 ZBTB48 ZNF143 SMC3 KLF7 SULT2B1 TMEM143 SYNGR4 BSPH1 ELSPBP1 ZNF114 CARD8
GH19G048091 0.6 ENCODE 10.9 +96.9 96889 0.2 NR2F1 BHLHE40 ZNF121 JUND ZFHX2 POLR3A FOS TCF7L2 CABP5 ELSPBP1 BSPH1 NAPA SULT2A1 LMTK3 PLA2G4C PLA2G4C-AS1
GH19G048264 0.5 FANTOM5 10 +270.0 269976 0.3 STAT1 STAT2 IKZF1 CEBPB SULT2B1 SYNGR4 TMEM143 PLA2G4C ELSPBP1 BSPH1 ZNF114 CARD8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELSPBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELSPBP1 Gene

Chromosome:
19
Start:
47,994,650 bp from pter
End:
48,025,156 bp from pter
Size:
30,507 bases
Orientation:
Plus strand

Genomic View for ELSPBP1 Gene

Genes around ELSPBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELSPBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELSPBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELSPBP1 Gene

Proteins for ELSPBP1 Gene

  • Protein details for ELSPBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BH3-ESPB1_HUMAN
    Recommended name:
    Epididymal sperm-binding protein 1
    Protein Accession:
    Q96BH3
    Secondary Accessions:
    • Q96RT0
    • Q9H4C8

    Protein attributes for ELSPBP1 Gene

    Size:
    223 amino acids
    Molecular mass:
    26106 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAC14267.1; Type=Frameshift; Positions=9; Evidence={ECO:0000305};

neXtProt entry for ELSPBP1 Gene

Post-translational modifications for ELSPBP1 Gene

Other Protein References for ELSPBP1 Gene

No data available for DME Specific Peptides for ELSPBP1 Gene

Domains & Families for ELSPBP1 Gene

Protein Domains for ELSPBP1 Gene

Suggested Antigen Peptide Sequences for ELSPBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BH3

UniProtKB/Swiss-Prot:

ESPB1_HUMAN :
  • Belongs to the seminal plasma protein family.
Family:
  • Belongs to the seminal plasma protein family.
genes like me logo Genes that share domains with ELSPBP1: view

No data available for Gene Families for ELSPBP1 Gene

Function for ELSPBP1 Gene

Molecular function for ELSPBP1 Gene

UniProtKB/Swiss-Prot Function:
Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity).

Gene Ontology (GO) - Molecular Function for ELSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008201 heparin binding IBA --
genes like me logo Genes that share ontologies with ELSPBP1: view

Phenotypes for ELSPBP1 Gene

GenomeRNAi human phenotypes for ELSPBP1:
genes like me logo Genes that share phenotypes with ELSPBP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ELSPBP1 Gene

Localization for ELSPBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELSPBP1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 ELSPBP1 gene
Compartment Confidence
extracellular 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ELSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with ELSPBP1: view

Pathways & Interactions for ELSPBP1 Gene

genes like me logo Genes that share pathways with ELSPBP1: view

Pathways by source for ELSPBP1 Gene

1 BioSystems pathway for ELSPBP1 Gene

Gene Ontology (GO) - Biological Process for ELSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization IEA --
GO:0048240 sperm capacitation IBA --
genes like me logo Genes that share ontologies with ELSPBP1: view

No data available for SIGNOR curated interactions for ELSPBP1 Gene

Drugs & Compounds for ELSPBP1 Gene

(1) Drugs for ELSPBP1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N,N,N-Trimethyl-2-(phosphonooxy)ethanaminium Experimental Pharma Target 0

(1) Additional Compounds for ELSPBP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphorylcholine
  • Choline phosphate
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphocholine
  • Phosphoryl-choline
3616-04-4
genes like me logo Genes that share compounds with ELSPBP1: view

Transcripts for ELSPBP1 Gene

mRNA/cDNA for ELSPBP1 Gene

Unigene Clusters for ELSPBP1 Gene

Epididymal sperm binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELSPBP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: - - -
SP3: -

Relevant External Links for ELSPBP1 Gene

GeneLoc Exon Structure for
ELSPBP1
ECgene alternative splicing isoforms for
ELSPBP1

Expression for ELSPBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELSPBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELSPBP1 Gene

This gene is overexpressed in Testis (x34.6) and Brain - Hypothalamus (x7.8).

NURSA nuclear receptor signaling pathways regulating expression of ELSPBP1 Gene:

ELSPBP1

SOURCE GeneReport for Unigene cluster for ELSPBP1 Gene:

Hs.104894

mRNA Expression by UniProt/SwissProt for ELSPBP1 Gene:

Q96BH3-ESPB1_HUMAN
Tissue specificity: Detected in cauda epididymidal fluid and on sperm membrane (at protein level).
genes like me logo Genes that share expression patterns with ELSPBP1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELSPBP1 Gene

Orthologs for ELSPBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELSPBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELSPBP1 34 35
  • 98.49 (n)
dog
(Canis familiaris)
Mammalia ELSPBP1 34 35
  • 84.3 (n)
cow
(Bos Taurus)
Mammalia ELSPBP1 34 35
  • 81.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELSPBP1 35
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 6 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Mmp28 35
  • 6 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 40 (a)
OneToMany
-- 35
  • 26 (a)
OneToMany
-- 35
  • 23 (a)
OneToMany
-- 35
  • 19 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch1073-408o3.1 35
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T21D11.1 35
  • 4 (a)
OneToMany
Species where no ortholog for ELSPBP1 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for ELSPBP1 Gene

ENSEMBL:
Gene Tree for ELSPBP1 (if available)
TreeFam:
Gene Tree for ELSPBP1 (if available)

Paralogs for ELSPBP1 Gene

Paralogs for ELSPBP1 Gene

(3) SIMAP similar genes for ELSPBP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ELSPBP1: view

Variants for ELSPBP1 Gene

Sequence variations from dbSNP and Humsavar for ELSPBP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000066264 -- 48,024,644(+) AGTGG(C/G)GTTCA intron-variant
rs1000091717 -- 47,994,380(+) CTATC(-/T)TAAAA upstream-variant-2KB
rs1000165395 -- 47,994,108(+) TGGGT(A/G)CAGTG upstream-variant-2KB
rs1000195071 -- 47,994,934(+) AATCA(C/T)TGTAA intron-variant
rs1000237138 -- 48,021,382(+) GTGTA(A/G)GGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELSPBP1 Gene

Variant ID Type Subtype PubMed ID
dgv3610n100 CNV gain 25217958
dgv3611n100 CNV gain 25217958
esv3392020 CNV insertion 20981092
esv34181 CNV loss 18971310
esv3644571 CNV loss 21293372
esv3893228 CNV loss 25118596
nsv1058622 CNV gain 25217958
nsv1058785 CNV gain 25217958
nsv1131435 CNV deletion 24896259
nsv428367 CNV gain+loss 18775914
nsv579900 CNV loss 21841781
nsv833853 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for ELSPBP1 Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.18; 96.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELSPBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELSPBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELSPBP1 Gene

Disorders for ELSPBP1 Gene

Relevant External Links for ELSPBP1

Genetic Association Database (GAD)
ELSPBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELSPBP1

No disorders were found for ELSPBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELSPBP1 Gene

Publications for ELSPBP1 Gene

  1. Genome-wide association study of intelligence: additive effects of novel brain expressed genes. (PMID: 22449649) Loo S.K. … Nelson S.F. (J Am Acad Child Adolesc Psychiatry 2012) 3 46 64
  2. Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related. (PMID: 17307309) Ekhlasi-Hundrieser M. … Toepfer-Petersen E. (Gene 2007) 3 4 64
  3. Novel sperm-binding proteins of epididymal origin contain four fibronectin type II-modules. (PMID: 11144225) Saalmann A. … Kirchhoff C. (Mol. Reprod. Dev. 2001) 3 4 64
  4. Hepatitis C virus core protein induces epithelial-mesenchymal transition in human hepatocytes by upregulating E12/E47 levels. (PMID: 25817725) Tiwari I. … Jang K.L. (Cancer Lett. 2015) 3 64
  5. Discovery of novel interacting partners of PSMD9, a proteasomal chaperone: Role of an Atypical and versatile PDZ-domain motif interaction and identification of putative functional modules. (PMID: 25009770) Sangith N. … Venkatraman P. (FEBS Open Bio 2014) 3 64

Products for ELSPBP1 Gene

Sources for ELSPBP1 Gene

Content
Loading form....