HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SHOC1
shortage in chiasmata 1
Chromosome 9 Β· 9q31.3
NCBI Gene: 158401Ensembl: ENSG00000165181.17HGNC: HGNC:26535UniProt: A0A804HK82
16PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP hydrolysis activitysingle-stranded DNA bindingchromosomeresolution of meiotic recombination intermediatesspermatogenic failure 75male infertilitymale infertility with azoospermia or oligozoospermia due to single gene mutationazoospermia
✦AI Summary

SHOC1 (shortage in chiasmata 1) is an essential meiotic ATPase that plays a critical role in crossover formation during homologous recombination. SHOC1 preferentially binds single-stranded DNA and branched DNA structures, exhibiting ATPase activity that is stimulated by single-stranded DNA, though it lacks nuclease activity in vitro 1. The protein belongs to the XPF/MUS81 endonuclease family and contains a conserved ERCC4-(HhH)2 core structure 12. During meiotic prophase I, SHOC1 functions as part of the ZMM protein complex, recruiting TEX11 and other proteins to facilitate class I crossover formation 1. SHOC1 is required for proper synaptonemal complex assembly and homologous chromosome 9, with deficiency leading to reduced MLH1 localization and abnormal synapsis 1. Bi-allelic loss-of-function variants in SHOC1 cause non-obstructive azoospermia with meiotic arrest at the zygotene stage in males 34 and premature ovarian insufficiency in females 5. These findings establish SHOC1 as a clinically relevant gene for reproductive disorders, with potential diagnostic implications for infertility management 6.

Sources cited
1
SHOC1 binds single-stranded DNA and branched structures, shows ATPase activity, belongs to XPF/MUS81 family, and interacts with TEX11
PMID: 29742103
2
Bi-allelic SHOC1 variants cause non-obstructive azoospermia with meiotic arrest
PMID: 35485979
3
SHOC1 deficiency causes spermatogenesis arrest at zygotene stage
PMID: 32900840
4
SHOC1 variants are associated with premature ovarian insufficiency
PMID: 36732629
5
SHOC1 is related to XPF endonuclease family and required for class I crossover formation
PMID: 18812090
6
SHOC1 is identified as a novel gene causing meiotic arrest with clinical diagnostic implications
PMID: 32741963
Disease Associationsβ“˜21
spermatogenic failure 75Open Targets
0.52Moderate
male infertilityOpen Targets
0.48Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.38Weak
azoospermiaOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
lacrimal apparatus diseaseOpen Targets
0.28Weak
Abnormal blistering of the skinOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.18Weak
cystic fibrosisOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
osteoarthritis, hipOpen Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
isochromosomy YpOpen Targets
0.05Suggestive
Spermatogenic failure 75UniProt
Pathogenic Variants13
NM_001378211.1(SHOC1):c.2131+2T>CPathogenic
Male infertility
β˜…β˜†β˜†β˜†2024
NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs)Pathogenic
Male infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 379
NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter)Pathogenic
Male infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 513
NM_001378211.1(SHOC1):c.1543del (p.Ser515fs)Pathogenic
Male infertility
β˜…β˜†β˜†β˜†2024β†’ Residue 515
NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs)Pathogenic
Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 426
NM_001378211.1(SHOC1):c.1785T>G (p.Tyr595Ter)Likely pathogenic
Spermatogenic failure 75
β˜…β˜†β˜†β˜†2021β†’ Residue 595
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter)Pathogenic
Spermatogenic failure 75|SHOC1-related condition
β˜†β˜†β˜†β˜†2024β†’ Residue 592
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 724
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 1489
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 553
NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 142
NM_001378211.1(SHOC1):c.989del (p.Leu330fs)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 330
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs)Pathogenic
Spermatogenic failure 75
β˜†β˜†β˜†β˜†2022β†’ Residue 464
View on ClinVar β†—
Related Genes
RNF212Protein interaction82%TEX11Protein interaction80%MSH4Protein interaction76%HFM1Protein interaction74%SYCE3Shared pathway57%SYCP1Shared pathway44%
Tissue Expression6 tissues
Lung
100%
Ovary
81%
Brain
65%
Liver
60%
Bone Marrow
23%
Heart
0%
Gene Interaction Network
Click a node to explore
SHOC1RNF212TEX11MSH4HFM1SYCE3SYCP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5VXU9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.57–0.89]
RankingsWhere SHOC1 stands among ~20K protein-coding genes
  • #15,382of 20,598
    Most Researched16
  • #2,636of 5,498
    Most Pathogenic Variants13
  • #8,006of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedSHOC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Landscape of pathogenic mutations in premature ovarian insufficiency.
PMID: 36732629
Nat Med Β· 2023
1.00
2
Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
PMID: 35485979
Mol Hum Reprod Β· 2022
0.90
3
Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.
PMID: 40374915
EMBO Mol Med Β· 2025
0.80
4
Bi-allelic
PMID: 32900840
J Med Genet Β· 2021
0.70
5
SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis.
PMID: 29742103
PLoS Genet Β· 2018
0.60