BSPH1 (binder of sperm protein homolog 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100131137
Gene name Binder of sperm protein homolog 1
Gene symbol BSPH1
Synonyms (NCBI Gene)
BSP1ELSPBP2
Chromosome 19
Chromosome location 19q13.33
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0007338 Process Single fertilization IEA
GO:0008201 Function Heparin binding IBA
GO:0008201 Function Heparin binding IEA
GO:0009986 Component Cell surface IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612213 33906 ENSG00000188334
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q075Z2
Protein name Binder of sperm protein homolog 1 (Bovine seminal plasma protein homolog 1) (Bovine seminal plasma protein-like 1)
Protein function Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B. {ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00040 fn2 45 → 82 Fibronectin type II domain Domain
PF00040 fn2 90 → 131 Fibronectin type II domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in the epididymis. {ECO:0000269|PubMed:17085770}.
Sequence
Sequence length 132
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PERIPHERAL VASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 2644988
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 2436686, 2644988 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Myeloid leukemia Pubtator 2644988 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 2436686 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 2644988
★★★★★
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia Myeloid Leukemia BEFREE 2644988
★★★★★
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia, Chronic Myeloid Leukemia BEFREE 2644988, 3258049
★★★★★
★☆☆☆☆
Found in Text Mining only