BSPH1 binder of sperm protein homolog 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BSPH1provided by HGNC
Official Full Name: binder of sperm protein homolog 1provided by HGNC
Primary source: HGNC:HGNC:33906
See related: Ensembl:ENSG00000188334 MIM:612213; AllianceGenome:HGNC:33906
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BSP1; ELSPBP2
Summary: 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. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47967258..47992170, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (50959608..50984497, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (48471303..48495427, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Title: Implication of the human Binder of SPerm Homolog 1 (BSPH1) protein in capacitation.
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.
Title: Recombinant expression and affinity purification of a novel epididymal human sperm-binding protein, BSPH1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in sperm capacitation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: binder of sperm protein homolog 1

Names: binder of sperm 1; bovine seminal plasma protein homolog 1; bovine seminal plasma protein-like 1; epididymal sperm binding protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001128326.2 → NP_001121798.1 binder of sperm protein homolog 1 precursor

See identical proteins and their annotated locations for NP_001121798.1

Status: VALIDATED

Source sequence(s)

AC010330, DQ227497

Consensus CDS

CCDS46135.1

UniProtKB/Swiss-Prot

A6NIZ5, Q075Z2

Related

ENSP00000341762.3, ENST00000344839.3

Conserved Domains (1) summary

pfam00040
Location:90 → 131

fn2; Fibronectin type II domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

47967258..47992170 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026118.1 → XP_016881607.1 binder of sperm protein homolog 1 isoform X1

UniProtKB/Swiss-Prot

A6NIZ5, Q075Z2

Conserved Domains (1) summary

pfam00040
Location:90 → 131

fn2; Fibronectin type II domain