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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPACA1
sperm acrosome associated 1
Chromosome 6 Β· 6q15
NCBI Gene: 81833Ensembl: ENSG00000118434.9HGNC: HGNC:14967UniProt: Q9HBV2
18PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingacrosomal vesicleacrosome assemblyacrosomal membranespermatogenic failure 85Abnormal erythrocyte morphologychondrocalcinosisneurodegenerative disease
✦AI Summary

SPACA1 (sperm acrosome associated 1) is a critical inner acrosomal membrane protein that plays an essential role in acrosome formation and establishment of normal sperm morphology during spermatogenesis 1. The protein localizes to the acrosomal equatorial segment and variable regions of the acrosomal principal segment 2. Mechanistically, SPACA1 functions as a component of the acrosome-acroplaxome complex, interacting with multiple proteins including ACTL7A, MFSD6L, HSP90B1, and cylicin-1 to anchor and stabilize acrosome structure 134. The protein is also involved in sperm capacitation and acrosome reaction pathways 5. Biallelic loss-of-function mutations in SPACA1 cause autosomal recessive globozoospermia, characterized by abnormally shaped sperm heads lacking proper acrosome structure 1. SPACA1 deficiency results in acrosome-acroplaxome complex damage and acrosomal hypoplasia 16. Clinically, SPACA1 distribution patterns correlate significantly with blastocyst development rates in conventional in vitro fertilization, suggesting potential use as a molecular biomarker for predicting fertility outcomes 2. While intracytoplasmic sperm injection can achieve pregnancy in SPACA1-deficient patients, natural conception is severely compromised due to acrosome dysfunction affecting sperm-egg interaction 1.

Sources cited
1
SPACA1 is critical for acrosome-acroplaxome complex integrity; biallelic loss-of-function variants cause globozoospermia through complex damage
PMID: 34172998
2
SPACA1 localization patterns in acrosome correlate with blastocyst development rates in IVF
PMID: 27185107
3
SPACA1 is an inner acrosomal membrane protein that interacts with MFSD6L for acrosome formation and anchoring
PMID: 38909778
4
SPACA1 interacts with cylicin-1 in the IAM-cylicins-NE sandwich structure anchoring acrosome to nucleus
PMID: 38573307
5
SPACA1 is downregulated in FSIP2-mutant sperm and is involved in acrosome biogenesis
PMID: 35654582
6
SPACA1 gene expression increases during sperm capacitation and acrosome reaction
PMID: 34609765
Disease Associationsβ“˜21
spermatogenic failure 85Open Targets
0.35Weak
Abnormal erythrocyte morphologyOpen Targets
0.28Weak
chondrocalcinosisOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.19Weak
cannabis dependenceOpen Targets
0.19Weak
hemiplegiaOpen Targets
0.17Weak
Incisional herniaOpen Targets
0.17Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 42Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
Spermatogenic failure 85UniProt
Pathogenic Variants1
NM_030960.3(SPACA1):c.53G>A (p.Trp18Ter)Pathogenic
Spermatogenic failure 85
β˜†β˜†β˜†β˜†2024β†’ Residue 18
View on ClinVar β†—
Related Genes
IZUMO3Shared pathway100%GARIN1AShared pathway100%DPY19L2Protein interaction84%IZUMO1Protein interaction79%SSMEM1Protein interaction71%ZPBPProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
33%
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
SPACA1IZUMO3GARIN1ADPY19L2IZUMO1SSMEM1ZPBP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HBV2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.42–1.00]
RankingsWhere SPACA1 stands among ~20K protein-coding genes
  • #14,815of 20,598
    Most Researched18
  • #5,406of 5,498
    Most Pathogenic Variants1
  • #9,755of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSPACA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 35654582
J Med Genet Β· 2023
1.00
2
Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice.
PMID: 38909778
J Genet Genomics Β· 2024
0.90
3
Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex.
PMID: 34172998
Hum Reprod Β· 2021
0.80
4
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.
PMID: 27185107
Zygote Β· 2016
0.70
5
Acrosome markers of human sperm.
PMID: 26748928
Anat Sci Int Β· 2016
0.60