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] See more...

Aliases for ELSPBP1 Gene

Aliases for ELSPBP1 Gene

  • Epididymal Sperm Binding Protein 1 2 3 5
  • Epididymal Sperm-Binding Protein 1 3 4
  • Epididymal Secretory Protein 12 3 4
  • Epididymal Protein 12 2 3
  • HE12 3 4
  • E12 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Luminal Secretory Protein 149 3
  • AC010330.1 5
  • 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 BSPH1.

UniProtKB/Swiss-Prot Summary for ELSPBP1 Gene

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

Additional gene information for ELSPBP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELSPBP1 Gene

Genomics for ELSPBP1 Gene

GeneHancer (GH) Regulatory Elements for ELSPBP1 Gene

Promoters and enhancers for ELSPBP1 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
GH19J047994 Promoter 0.9 EPDnew 750.6 +0.0 36 0.1 SP7 GLIS2 PKNOX1 PRDM10 ZEB2 ZNF629 PATZ1 ZNF692 SP2 ZNF561 ELSPBP1 piR-35674-267 piR-43106-113
GH19J047991 Enhancer 0.6 FANTOM5 131.3 -3.3 -3273 0.2 MAX PRDM1 IKZF1 ZNF512 ZSCAN18 ZFHX2 WT1 ZNF366 ZNF398 SP3 BSPH1 ELSPBP1 HSD17B14 ZSWIM9 MEIS3 piR-34822-164
GH19J048958 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 +969.4 969397 10.2 ZNF785 SIN3A SP1 ZBTB40 SIX5 ZBTB6 LCORL MLX SMARCE1 RBPJ FTL ENSG00000267898 NONHSAG026207.2 NUP62 PRR12 PTOV1-AS2 GRWD1 PIH1D1 IRF3 SNORD35B
GH19J047105 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -884.3 -884276 9.3 ZNF785 SIN3A SP1 ZBTB40 LCORL MLX SMARCE1 RBPJ POLR2A USF2 ZC3H4 ENSG00000268810 BICRA NOP53-AS1 CCDC9 PPP5D1 C5AR2 PRKD2 PNMA8A TMEM160
GH19J047225 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -765.3 -765284 8.3 PPP1R10 GTF3C2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF ZBTB6 MLX BBC3 lnc-ZC3H4-1 ZC3H4 BICRA ENSG00000268810 NOP53-AS1 CCDC9 NOP53 SLC1A5 PRKD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELSPBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELSPBP1 gene promoter:
  • C/EBPbeta
  • Cart-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-kappaB
  • NF-kappaB1
  • p300
  • POU2F1
  • POU2F1a
  • SRF (504 AA)

Genomic Locations for ELSPBP1 Gene

Genomic Locations for ELSPBP1 Gene
chr19:47,994,632-48,025,156
(GRCh38/hg38)
Size:
30,525 bases
Orientation:
Plus strand
chr19:48,497,908-48,528,410
(GRCh37/hg19)
Size:
30,503 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

Gene Families for ELSPBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ELSPBP1 Gene

Suggested Antigen Peptide Sequences for ELSPBP1 Gene

GenScript: Design optimal peptide antigens:
  • Epididymal secretory protein 12 (ESPB1_HUMAN)

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

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).

Phenotypes From GWAS Catalog for ELSPBP1 Gene

Gene Ontology (GO) - Molecular Function for ELSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008201 heparin binding IBA 21873635
genes like me logo Genes that share ontologies with ELSPBP1: view

Phenotypes for ELSPBP1 Gene

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

Animal Model Products

CRISPR 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 0
nucleus 0
endoplasmic reticulum 0

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 21873635
genes like me logo Genes that share ontologies with ELSPBP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELSPBP1 Gene

Pathways & Interactions for ELSPBP1 Gene

PathCards logo

SuperPathways for ELSPBP1 Gene

SuperPathway Contained pathways
1 NFAT and Cardiac Hypertrophy
.42
.42
2 miRs in Muscle Cell Differentiation
genes like me logo Genes that share pathways with ELSPBP1: view

Pathways by source for ELSPBP1 Gene

1 BioSystems pathway for ELSPBP1 Gene
2 Qiagen pathways for ELSPBP1 Gene
  • NFAT and Cardiac Hypertrophy
  • Signaling Involved in Cardiac Hypertrophy

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 21873635
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
  • CHOP
  • N-Trimethyl-2-aminoethylphosphonate
  • O-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

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(6) 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 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

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 33 32
  • 98.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELSPBP1 33 32
  • 84.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ELSPBP1 33 32
  • 81.91 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELSPBP1 33
  • 45 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmp28 33
  • 6 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 6 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 40 (a)
OneToMany
-- 33
  • 26 (a)
OneToMany
-- 33
  • 23 (a)
OneToMany
-- 33
  • 19 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch1073-408o3.1 33
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T21D11.1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ELSPBP1: view image

Paralogs for ELSPBP1 Gene

Paralogs for ELSPBP1 Gene

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

  • ESPB1_HUMAN
  • M0QZH6_HUMAN
  • M0R006_HUMAN
  • M0R179_HUMAN
  • M0R331_HUMAN
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 Variation AA Info Type
rs1000066264 -- 48,024,644(+) C/G intron_variant
rs1000091717 -- 47,994,381(+) T/CAA/TT upstream_transcript_variant
rs1000165395 -- 47,994,108(+) G/A upstream_transcript_variant
rs1000195071 -- 47,994,934(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000237138 -- 48,021,382(+) G/A 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)

Additional Variant Information 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

Additional Disease Information for 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 SK … Nelson SF (Journal of the American Academy of Child and Adolescent Psychiatry 2012) 3 43 56
  2. Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related. (PMID: 17307309) Ekhlasi-Hundrieser M … Töpfer-Petersen E (Gene 2007) 3 4 56
  3. Novel sperm-binding proteins of epididymal origin contain four fibronectin type II-modules. (PMID: 11144225) Saalmann A … Kirchhoff C (Molecular reproduction and development 2001) 3 4 56
  4. Hepatitis C virus core protein induces epithelial-mesenchymal transition in human hepatocytes by upregulating E12/E47 levels. (PMID: 25817725) Tiwari I … Jang KL (Cancer letters 2015) 3 56
  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 56

Products for ELSPBP1 Gene

Sources for ELSPBP1 Gene