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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPEM1
spermatid maturation 1
Chromosome 17 · 17p13.1
NCBI Gene: 374768Ensembl: ENSG00000181323.8HGNC: HGNC:32429UniProt: Q8N4L4
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsperm individualizationflagellated sperm motilitycytoplasmazoospermiapartial chromosome Y deletionspermatogenic failure 72spermatogenic failure, X-linked, 5
✦AI Summary

SPEM1 (spermatid maturation 1) is essential for proper cytoplasm removal and sperm maturation during spermatogenesis. The protein functions in late-stage spermiogenesis, where it interacts with junction plakoglobin to facilitate proper sperm morphology and motility 1. SPEM1 is involved in flagellar assembly and sperm individualization, processes critical for producing functional spermatozoa 2. SPEM1 dysfunction causes teratozoospermia characterized by morphological defects including coiled sperm tails and excessive residual cytoplasm 34. A heterozygous SPEM1 mutation (c.826C>T, Arg276Trp) has been identified as a pathogenic variant causing coiled sperm tail defects 3. SPEM1 mRNA expression is tightly regulated during spermatid development, with phosphorylated GRTH playing a role in stabilizing SPEM1 transcripts within chr17 bodies 5. Clinically, SPEM1 has significant diagnostic value in male infertility assessment. Among testis-specific markers, SPEM1 shows superior predictive power (96% sensitivity, 85% specificity) for predicting sperm retrieval success in azoospermic men undergoing testicular sperm extraction 6. SPEM1 appears as a robust protein marker for evaluating sperm quality and understanding the molecular basis of male infertility phenotypes 27.

Sources cited
1
SPEM1 identified as a deregulated sperm protein with deviant abundance in male infertility, involved in flagellar assembly and spermiogenesis
PMID: 36896575
2
SPEM1 heterozygous mutation c.826C>T (Arg276Trp) causes teratozoospermia with coiled sperm tails
PMID: 38886283
3
SPEM1 implicated in molecular genetic mechanisms of teratozoospermia, particularly excessive residual cytoplasm
PMID: 24432614
4
SPEM1 interacts with junction plakoglobin during spermiogenesis; disruption impairs sperm morphology and motility
PMID: 33623031
5
SPEM1 transcripts are regulated by phospho-GRTH in chromatoid bodies during spermatid development
PMID: 33425888
6
SPEM1 has best predictive power (96% sensitivity, 85% specificity, AUC 0.91) among testis markers for sperm retrieval success
PMID: 30054974
7
SPEM1 identified as potential protein marker for male infertility diagnosis and sperm quality assessment
PMID: 37118964
8
SPEM1 expression significantly lower in non-obstructive azoospermia and correlates with sperm retrieval outcomes
PMID: 29305944
Disease Associationsⓘ20
azoospermiaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 19Open 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 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRC23Shared pathway100%RIBC2Shared pathway100%SPAG8Shared pathway100%LZTFL1Shared pathway100%PRM3Shared pathway100%CFAP68Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Ovary
50%
Heart
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SPEM1LRRC23RIBC2SPAG8LZTFL1PRM3CFAP68
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N4L4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.68–1.73]
RankingsWhere SPEM1 stands among ~20K protein-coding genes
  • #17,181of 20,598
    Most Researched10
  • #16,226of 17,882
    Most Constrained (LOEUF)1.73
Genes detectedSPEM1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
The human sperm proteome-Toward a panel for male fertility testing.
PMID: 36896575
Andrology · 2023
1.00
2
SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.
PMID: 38886283
Reprod Sci · 2024
0.88
3
Differential Proteomic Analysis of Human Sperm: A Systematic Review to Identify Candidate Targets to Monitor Sperm Quality.
PMID: 37118964
World J Mens Health · 2024
0.75
4
Role of Phosphorylated Gonadotropin-Regulated Testicular RNA Helicase (GRTH/DDX25) in the Regulation of Germ Cell Specific mRNAs in Chromatoid Bodies During Spermatogenesis.
PMID: 33425888
Front Cell Dev Biol · 2020
0.63
5
[Molecular genetic mechanisms of teratozoospermia].
PMID: 24432614
Zhonghua Nan Ke Xue · 2013
0.50