SPACA1 sperm acrosome associated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPACA1provided by HGNC
Official Full Name: sperm acrosome associated 1provided by HGNC
Primary source: HGNC:HGNC:14967
See related: Ensembl:ENSG00000118434 MIM:612739; AllianceGenome:HGNC:14967
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: SAMP32; SPGF85
Summary: The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 11.4) See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (88046901..88066838)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (89255379..89275314)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (88757559..88776556)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo.
Title: Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo.
Spaca1 role in male infertility.Distribution of SPACA1 in the sperm affects the outcomes of conventional in vitro fertilization.
Title: Individual differences in the distribution of sperm acrosome-associated 1 proteins among male patients of infertile couples; their possible impact on outcomes of conventional in vitro fertilization.
Human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes reduced fertility in male/female mice.
Title: Discovery of human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes and their effects on fertility in male and female mice.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
SAMP32 was associated with the inner acrosomal membrane and recombinant SAMP32 reacted with serum from an infertile man suggesting that it is isoantigenic
Title: SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane-associated protein.

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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

Associated conditions

Description	Tests
Spermatogenic failure 85 MedGen: C5882685 OMIM: 620490 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acrosome assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in acrosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in inner acrosomal membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sperm acrosome membrane-associated protein 1

Names: sperm acrosomal membrane-associated protein 32

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_030960.3 → NP_112222.1 sperm acrosome membrane-associated protein 1 precursor

See identical proteins and their annotated locations for NP_112222.1

Status: VALIDATED

Source sequence(s)

AF203447, AL136096, BC029488

Consensus CDS

CCDS5014.1

UniProtKB/Swiss-Prot

Q9HBV2

Related

ENSP00000237201.1, ENST00000237201.2

Conserved Domains (1) summary

cd13783
Location:31 → 275

SPACA1; Sperm acrosome membrane-associated protein 1

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

88046901..88066838

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536160.3 → XP_011534462.1 sperm acrosome membrane-associated protein 1 isoform X2

Conserved Domains (1) summary

cd13783
Location:1 → 193

SPACA1; Sperm acrosome membrane-associated protein 1
XM_017011335.2 → XP_016866824.1 sperm acrosome membrane-associated protein 1 isoform X2

Conserved Domains (1) summary

cd13783
Location:1 → 193

SPACA1; Sperm acrosome membrane-associated protein 1
XM_047419385.1 → XP_047275341.1 sperm acrosome membrane-associated protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

89255379..89275314

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356497.1 → XP_054212472.1 sperm acrosome membrane-associated protein 1 isoform X2
XM_054356498.1 → XP_054212473.1 sperm acrosome membrane-associated protein 1 isoform X2
XM_054356496.1 → XP_054212471.1 sperm acrosome membrane-associated protein 1 isoform X1