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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HM13
histocompatibility minor 13
Chromosome 20 · 20q11.21
NCBI Gene: 81502Ensembl: ENSG00000101294.20HGNC: HGNC:16435UniProt: A0A0C4DGU3
126PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membrane protein ectodomain proteolysismembrane protein intracellular domain proteolysisprotein bindingpeptidase activityneoplasmhepatocellular carcinomabreast cancercancer
✦AI Summary

HM13 encodes signal peptide peptidase (SPP), an intramembrane protease that catalyzes the cleavage of signal peptides from secretory and membrane proteins within the endoplasmic reticulum 1. The enzyme is required for generating HLA-E epitopes from MHC class I signal peptides and processes various membrane proteins including PSEN1 and XBP1 213. HM13/SPP functions through ER-associated degradation (ERAD) mechanisms, promoting proteasomal degradation of metabolic regulators like heme oxygenase-1 4. The protein serves as a critical host factor for flavivirus replication, with knockout or proteolytic activity disruption markedly reducing replication of dengue virus, Zika virus, and other flaviviruses 5. Clinically, HM13 demonstrates significant disease relevance as it is upregulated in hepatocellular carcinoma and colorectal cancer, correlating with poor prognosis and enhanced tumor cell proliferation and migration 678. In cardiovascular disease, HM13/SPP promotes atherogenesis by enhancing foamy macrophage formation through ERAD-mediated degradation pathways 4. The enzyme shows promise as both a prognostic biomarker and therapeutic target, with HM13 expression serving as an independent predictor of survival in multiple cancer types and SPP inhibitors demonstrating potent antiviral activity 56.

Sources cited
1
HM13 catalyzes intramembrane proteolysis of signal peptides and cleaves PSEN1
PMID: 12077416
2
HM13 is required for generating HLA-E epitopes from MHC class I signal peptides and cleaves PSEN1
PMID: 11714810
3
HM13 cleaves XBP1 isoform 1 in a DERL1/RNF139-dependent manner
PMID: 25239945
4
HM13/SPP enhances foamy macrophage formation and atherogenesis through ERAD-mediated degradation of heme oxygenase-1
PMID: 40112173
5
SPP is a critical host factor for flavivirus replication, with knockout reducing viral replication
PMID: 39969998
6
HM13 is upregulated in hepatocellular carcinoma and correlates with poor prognosis
PMID: 35964022
7
HM13 is upregulated in colorectal cancer and enhances proliferation and migration
PMID: 39755056
8
High HM13 expression correlates with poor prognosis in hepatocellular carcinoma and is an independent prognostic factor
PMID: 39160363
Disease Associationsⓘ20
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
eye diseaseOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
breast neoplasmOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
gliomaOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
necrotizing enterocolitisOpen Targets
0.03Suggestive
congenital heart malformationOpen Targets
0.03Suggestive
heterotaxy, visceral, 1, X-linkedOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
CHARGE syndromeOpen Targets
0.03Suggestive
CHD7-related CHARGE syndromeOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VCPProtein interaction100%SYVN1Protein interaction100%USH2AProtein interaction100%AMFRProtein interaction94%SEL1LProtein interaction94%RNF139Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Lung
70%
Bone Marrow
48%
Ovary
46%
Brain
38%
Heart
25%
Gene Interaction Network
Click a node to explore
HM13VCPSYVN1USH2AAMFRSEL1LRNF139
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TCT9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.37 [0.24–0.56]
RankingsWhere HM13 stands among ~20K protein-coding genes
  • #3,723of 20,598
    Most Researched126 · top quartile
  • #3,677of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedHM13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Macrophage HM13/SPP Enhances Foamy Macrophage Formation and Atherogenesis.
PMID: 40112173
Adv Sci (Weinh) · 2025
1.00
2
Genetic association of tertiary lymphoid structure-related gene signatures with HCC based on Mendelian randomization and machine learning and construction of prognosis model.
PMID: 39566392
Int Immunopharmacol · 2025
0.90
3
Druggable genome screens identify SPP as an antiviral host target for multiple flaviviruses.
PMID: 39969998
Proc Natl Acad Sci U S A · 2025
0.80
4
High Diagnostic Accuracy of Epigenetic Imprinting Biomarkers in Thyroid Nodules.
PMID: 36378996
J Clin Oncol · 2023
0.70
5
Identification of HM13 as a prognostic indicator and a predictive biomarker for immunotherapy in hepatocellular carcinoma.
PMID: 35964022
BMC Cancer · 2022
0.60