MAIP1
protein-codingmatrix AAA peptidase interacting protein 1
Gene summary
Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]
- C2orf47
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~53.2 kbGenCC 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 MAIP1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001394955.1. 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 | 1 | 1 | ||||
| missense | 2 | 2 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 5 | 1 | 0 | 6 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001381884.1 | 5 | MANE Select | |
| Ensembl | ENSP00000376111.1 | 5 | MANE Select | |
| RefSeq | NP_001356328.1 | 4 | Standard | |
| RefSeq | NP_078796.2 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Transport of small molecules
- Mitochondrial calcium ion transport
- Processing of SMDT1
Biological Process
- mitochondrial calcium ion transmembrane transport
- inner mitochondrial membrane organization
- protein insertion into mitochondrial inner membrane from matrix
- calcium import into the mitochondrion
- protein insertion into mitochondrial membrane
Molecular Function
- protein binding
- ribosome binding
Cellular Component
- mitochondrial inner membrane
- mitochondrial matrix
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000295079
- Coding exons
- 5
- Length
- 53224
- Individuals with no LoFs
- 125115
- Homozygous LoFs
- 8
- Heterozygous LoFs
- 624
- Defined
- 125747
- p
- 0.00252
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.680 | 131 | 155 | 0.846 | 0.00000697 | 1869 |
| Missense (PolyPhen) | 39 | 50.026 | 0.77959 | 658 | ||
| Synonymous | 0.112 | 63 | 64.1 | 0.982 | 0.00000287 | 591 |
| Loss of Function | 0.823 | 10 | 13.2 | 0.756 | 5.75e-7 | 154 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.017 | 0.017 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00060 | 0.00060 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00025 | 0.00025 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.0011 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048). {ECO:0000269|PubMed:27642048}.;
Recessive Scores
- pRec
- 0.0494
Intolerance Scores
- RVIS EVS
- -0.12
- RVIS percentile EVS
- 44.89