Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64100
Gene name Gene Name - the full gene name approved by the HGNC.
Epididymal sperm binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELSPBP1
Synonyms (NCBI Gene) Gene synonyms aliases
E12, EDDM12, EL149, HE12
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1984937 hsa-miR-3145-3p CLIP-seq
MIRT1984938 hsa-miR-4699-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0007338 Process Single fertilization IEA
GO:0008201 Function Heparin binding IBA 21873635
GO:0009986 Component Cell surface IBA 21873635
GO:0048240 Process Sperm capacitation IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607443 14417 ENSG00000169393
Protein
UniProt ID Q96BH3
Protein name Epididymal sperm-binding protein 1 (Epididymal secretory protein 12) (hE12)
Protein function Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00040 fn2 29 66 Fibronectin type II domain Domain
PF00040 fn2 74 115 Fibronectin type II domain Domain
PF00040 fn2 129 168 Fibronectin type II domain Domain
PF00040 fn2 182 223 Fibronectin type II domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in cauda epididymidal fluid and on sperm membrane (at protein level). {ECO:0000269|PubMed:11144225, ECO:0000269|PubMed:17307309}.
Sequence
Sequence length 223
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Asthma Childhood asthma 29551627 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Focal Facial Dermal Dysplasias Associate 21801849
Infertility Associate 35663320
Neoplasms Associate 9821964
Rhabdomyosarcoma Associate 19299559
Virilism Associate 35663320