ERMP1

protein-coding

endoplasmic reticulum metallopeptidase 1, the group of M28 metallopeptidases

Gene summary

Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1815

MANE transcript

NM_024896.3

Inheritance

—

ClinVar variants

U:143B:8

Top phenotype

Autism

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr9:5,749,832-5,879,537

External References & Databases

Ensembl (ENSG00000099219)

Transcript & Mutation Effects

hg38 • Region Span ~129.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ERMP1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 135

not providedTotal: 10

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024896.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	3 clinvar	5
missense			139 clinvar	1 clinvar	2 clinvar	142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	143	3	5	151

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 57 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024896.3	RefSeq	NP_079172.2	15	MANE Select
ENST00000339450.10	Ensembl	ENSP00000340427.5	15	MANE Select
NM_001410952.1	RefSeq	NP_001397881.1	13	Standard
ENST00000462592.5	Ensembl	ENSP00000417160.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

metallopeptidase activity
metal ion binding

Cellular Component

endoplasmic reticulum membrane
membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000339450
Coding exons: 15
Length: 68042
Individuals with no LoFs: 125623
Homozygous LoFs: 0
Heterozygous LoFs: 125
Defined: 125748
p: 0.000497

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.842	519	468	1.11	0.0000227	5846
Missense (PolyPhen)		65	90.414	0.71892		1150
Synonymous	-2.59	217	174	1.25	0.00000873	1808
Loss of Function	2.12	25	39.4	0.635	0.00000198	477

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0012	0.0012	notable
Latino/Admixed American	0.00036	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00034	0.00033	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00066	0.00066	rare
South Asian	0.00030	0.00029	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures. {ECO:0000250|UniProtKB:Q6UPR8}.;

Recessive Scores

pRec: 0.0949

Intolerance Scores

LoFtool: 0.869
RVIS EVS: -1.04
RVIS percentile EVS: 7.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.182

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium