Description: Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA. RefSeq Summary (NM_022142): 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]. Transcript (Including UTRs) Position: hg19 chr19:48,497,908-48,528,410 Size: 30,503 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr19:48,511,925-48,525,584 Size: 13,660 Coding Exon Count: 5
ID:ESPB1_HUMAN DESCRIPTION: RecName: Full=Epididymal sperm-binding protein 1; AltName: Full=Epididymal secretory protein 12; Short=hE12; Flags: Precursor; FUNCTION: Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity). SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Detected in cauda epididymidal fluid and on sperm membrane (at protein level). PTM: N-glycosylated. SIMILARITY: Belongs to the seminal plasma protein family. SIMILARITY: Contains 4 fibronectin type-II domains. SEQUENCE CAUTION: Sequence=CAC14267.1; Type=Frameshift; Positions=9;
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ELSPBP1 CDC HuGE Published Literature: ELSPBP1 Positive Disease Associations: Body Mass Index
, Intelligence Related Studies:
Intelligence Sandra K Loo et al. Journal of the American Academy of Child and Adolescent Psychiatry 2012, Genome-wide association study of intelligence: additive effects of novel brain expressed genes., Journal of the American Academy of Child and Adolescent Psychiatry.
[PubMed 22449649]
Analyses that examine additive genetic effects may be useful in identifying regions where the additive effects of SNPs have a significant effect on phenotype. These results describe novel variants and additive effects of genes involved in brain development on variability in intelligence within an ADHD sample. The precise mechanisms of these loci in relation to determining individual differences in general cognitive ability require further investigation.
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Highest median expression: 0.47 RPKM in Testis
Total median expression: 0.47 RPKM
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96BH3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
