BSPH1

Summary

BSPH1 (binder of sperm protein homolog 1, HGNC:33906) is a protein-coding gene on chromosome 19q13.33, encoding Binder of sperm protein homolog 1 (Q075Z2). Binds sperm in vitro and promotes sperm capacitation.

Predicted to enable heparin binding activity. Predicted to be involved in sperm capacitation. Predicted to be located in extracellular region. Predicted to be active in cell surface.

Source: NCBI Gene 100131137 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 31 total — 1 pathogenic
• MANE Select transcript: NM_001128326

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33906
Approved symbol	BSPH1
Name	binder of sperm protein homolog 1
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	ELSPBP2, BSP1
Ensembl gene	ENSG00000188334
Ensembl biotype	protein_coding
OMIM	612213
Entrez	100131137

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000344839

RefSeq mRNA: 1 — MANE Select: NM_001128326 NM_001128326

CCDS: CCDS46135

Canonical transcript exons

ENST00000344839 — 6 exons

Exon	Start	End
ENSE00001379098	47976710	47976854
ENSE00001390185	47977373	47977504
ENSE00001526011	47968046	47968209
ENSE00001526014	47979570	47979599
ENSE00001526015	47980921	47980941
ENSE00001526017	47992009	47992170

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 52.48.

Top tissues by expression

120 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	52.48	silver quality
right hemisphere of cerebellum	UBERON:0014890	47.38	gold quality
cerebellum	UBERON:0002037	46.67	gold quality
cerebellar cortex	UBERON:0002129	46.65	gold quality
cerebellar hemisphere	UBERON:0002245	46.38	gold quality
sural nerve	UBERON:0015488	43.26	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
superior frontal gyrus	UBERON:0002661	34.30	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
primary visual cortex	UBERON:0002436	33.38	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
prefrontal cortex	UBERON:0000451	30.53	gold quality
monocyte	CL:0000576	30.17	silver quality
leukocyte	CL:0000738	29.94	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	29.26	silver quality
frontal cortex	UBERON:0001870	28.48	silver quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
cerebral cortex	UBERON:0000956	26.46	silver quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting BSPH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-6858-3P	96.37	64.41	771
HSA-MIR-4256	96.22	67.70	669

Literature-anchored findings (GeneRIF, showing 2)

• BSPH1 accumulates in inclusion bodies when expressed with an N-terminal hexahistidine tag in BL21 (DE3) Escherichia coli cells, and recombinant protein bound phosphatidylcholine liposomes, low-density lipoproteins and human sperm. (PMID:19091820)
• Results show that the human epididymal BSPH1 shares many biochemical and functional characteristics with BSP proteins secreted by seminal vesicles of ungulates, and behaves similarly to its murine epididymal orthologue BSPH1. (PMID:24435510)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bsph1	ENSMUSG00000074378
rattus_norvegicus	Bsph1	ENSRNOG00000052287

Paralogs (1): ELSPBP1 (ENSG00000169393)

Protein

Protein identifiers

Binder of sperm protein homolog 1 — Q075Z2 (reviewed: Q075Z2)

Alternative names: Bovine seminal plasma protein homolog 1, Bovine seminal plasma protein-like 1

All UniProt accessions (1): Q075Z2

UniProt curated annotations — full annotation on UniProt →

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.

Subcellular location. Secreted.

Tissue specificity. Expressed only in the epididymis.

Similarity. Belongs to the seminal plasma protein family.

RefSeq proteins (1): NP_001121798* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000562	FN_type2_dom	Domain
IPR013806	Kringle-like	Homologous_superfamily
IPR036943	FN_type2_sf	Homologous_superfamily
IPR051666	SP_Capacitation_Regulator	Family

Pfam: PF00040

UniProt features (9 total): disulfide bond 4, domain 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q075Z2-F1	83.66	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (4): 45–69, 59–82, 90–116, 104–131

Glycosylation sites (1): 53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOBP_SINGLE_FERTILIZATION, GOCC_CELL_SURFACE, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOMF_GLYCOSAMINOGLYCAN_BINDING, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_FERTILIZATION, GOMF_HEPARIN_BINDING, GOMF_SULFUR_COMPOUND_BINDING, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, NABA_ECM_GLYCOPROTEINS, MIR4477A

GO Biological Process (2): single fertilization (GO:0007338), sperm capacitation (GO:0048240)

GO Molecular Function (1): heparin binding (GO:0008201)

GO Cellular Component (2): extracellular region (GO:0005576), cell surface (GO:0009986)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
fertilization	1
developmental process involved in reproduction	1
spermatid development	1
cellular process involved in reproduction in multicellular organism	1
cell maturation	1
glycosaminoglycan binding	1
sulfur compound binding	1

Protein interactions and networks

STRING

242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BSPH1	C17orf67	Q0P5P2	572
BSPH1	SPACA1	Q9HBV2	524
BSPH1	ACRBP	Q8NEB7	493
BSPH1	LCN6	P62502	403
BSPH1	DHX34	Q14147	395
BSPH1	MTNAP1	Q9BSJ5	390
BSPH1	SYT3	Q9BQG1	389
BSPH1	CLGN	O14967	389
BSPH1	CSRP3	P50461	361
BSPH1	PABPC1L	Q4VXU2	353
BSPH1	PABPC4	Q13310	353
BSPH1	PABPC3	Q9H361	349
BSPH1	RUFY1	Q96T51	332
BSPH1	ADAM20	O43506	329
BSPH1	CRISP2	P16562	328

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4K2P0, A5X2X1, A7X3V7, B2BRQ6, B2BS84, E5AJX3, F6ULY1, I2G9B4, O35536, O43278, O43291, O55006, O89103, P00974, P00992, P02784, P04557, P13385, P17945, P26461, P48307, P51864, P51865, P80964, P81019, P81121, Q075Z2, Q08048, Q08E66, Q0Q236, Q16609, Q3UW26, Q5RCS3, Q6UW32, Q76BS1, Q7SXB3, Q7TMJ8, Q7YR83, Q867B7, Q8TEU8

Diamond homologs: B3EWK6, P02784, P04557, P80964, P81019, P81121, Q07113, Q075Z2, Q0Q236, Q3UW26, Q7YR83, Q96BH3, Q9GL25, P08169, P11717, P33434, P33436, D3ZTE0, O18733, P00748, P08253, P11722, P49259, Q04962, Q80YC5, Q80Z70, Q9ESM7, Q9UBV2, Q9Z2G6, O97507, P02751, P04937, P07589, P11276, P14780, P41245, P41246, P49260, P50282, P50757

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

31 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	28
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	Pathogenic

SpliceAI

844 predictions. Top by Δscore:

Variant	Effect	Δscore
19:47992011:A:AC	donor_gain	1.0000
19:47976737:T:TA	donor_gain	0.9900
19:47992012:A:C	donor_gain	0.9900
19:47976694:C:A	donor_gain	0.9800
19:47992007:A:AC	donor_gain	0.9800
19:47992008:C:CC	donor_gain	0.9800
19:47976709:CCAT:C	donor_gain	0.9700
19:47976786:C:A	donor_gain	0.9700
19:47976785:T:TA	donor_gain	0.9600
19:47977505:C:CC	acceptor_gain	0.9600
19:47976703:ATCTC:A	donor_loss	0.9500
19:47976704:TCTCA:T	donor_loss	0.9500
19:47976705:CTCA:C	donor_loss	0.9500
19:47976706:TCACC:T	donor_loss	0.9500
19:47976707:CACC:C	donor_loss	0.9500
19:47976708:A:AG	donor_loss	0.9500
19:47976709:C:CT	donor_loss	0.9500
19:47976715:T:C	donor_gain	0.9500
19:47977368:CTCA:C	donor_loss	0.9500
19:47977369:TCA:T	donor_loss	0.9500
19:47977370:CA:C	donor_loss	0.9500
19:47977371:A:C	donor_loss	0.9500
19:47977372:C:T	donor_loss	0.9500
19:47977502:CAT:C	acceptor_gain	0.9500
19:47979600:C:CC	acceptor_gain	0.9500
19:47976702:AATCT:A	donor_loss	0.9400
19:47976726:T:TA	donor_gain	0.9400
19:47976853:ATC:A	acceptor_loss	0.9400
19:47976854:TC:T	acceptor_loss	0.9400
19:47977365:ACACT:A	donor_loss	0.9400

AlphaMissense

867 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:47977425:C:A	W68C	0.999
19:47977425:C:G	W68C	0.999
19:47976766:C:A	W115C	0.998
19:47976766:C:G	W115C	0.998
19:47977423:C:G	C69S	0.998
19:47977424:A:T	C69S	0.998
19:47976764:C:G	C116S	0.997
19:47976765:A:T	C116S	0.997
19:47976829:G:C	F94L	0.997
19:47976829:G:T	F94L	0.997
19:47976831:A:G	F94L	0.997
19:47977489:A:C	F47C	0.997
19:47976800:C:G	C104S	0.996
19:47976801:A:T	C104S	0.996
19:47977384:C:G	C82S	0.996
19:47977385:A:T	C82S	0.996
19:47977495:C:G	C45S	0.996
19:47977496:A:T	C45S	0.996
19:47976768:A:G	W115R	0.995
19:47976768:A:T	W115R	0.995
19:47976801:A:G	C104R	0.995
19:47977427:A:G	W68R	0.995
19:47977427:A:T	W68R	0.995
19:47977453:C:G	C59S	0.995
19:47977454:A:T	C59S	0.995
19:47976719:C:T	C131Y	0.994
19:47977383:G:C	C82W	0.994
19:47977384:C:T	C82Y	0.994
19:47977422:G:C	C69W	0.994
19:47977482:G:C	F49L	0.994

dbSNP variants (sampled 300 via entrez): RS1000063843 (19:47989232 G>A,T), RS1000084069 (19:47983515 C>G), RS1000165395 (19:47994108 G>A), RS1000454914 (19:47993858 A>G), RS1000502018 (19:47992624 G>A), RS1000590067 (19:47994139 T>C), RS1000822152 (19:47973171 C>G,T), RS1001132542 (19:47970112 G>A), RS1001543126 (19:47976452 G>A), RS1001766834 (19:47992880 T>A,C), RS1001908621 (19:47979853 T>C), RS1001935259 (19:47986109 C>G), RS1001999941 (19:47987280 G>A,C,T), RS1002496734 (19:47989905 G>A), RS1002497979 (19:47976563 A>C,G)

Disease associations

OMIM: gene MIM:612213 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.