MAIP1

matrix AAA peptidase interacting protein 1

Basic information

Region (hg38): 2:199955317-200008540

Previous symbols: [ "C2orf47" ]

Links

ENSG00000162972

∙ NCBI:79568 ∙ OMIM:617267 ∙ HGNC:26198 ∙ Uniprot:Q8WWC4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAIP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAIP1	protein_coding	protein_coding	ENST00000295079	5	53224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000302	0.557	125115	8	624	125747	0.00252

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.680	131	155	0.846	0.00000697	1869
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0173	0.0173
Ashkenazi Jewish	0.00	0.00
East Asian	0.000599	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000254	0.000246
Middle Eastern	0.000599	0.000598
South Asian	0.0000328	0.0000327
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

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}.;
Pathway: Transport of small molecules;Mitochondrial calcium ion transport;Processing of SMDT1 (Consensus)

Recessive Scores

pRec: 0.0494

Intolerance Scores

loftool
rvis_EVS: -0.12
rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

pHI: 0.0285
hipred: N
hipred_score: 0.316
ghis: 0.522

Mouse Genome Informatics

Gene name: Maip1
Phenotype

Gene ontology

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;mitochondrial calcium ion homeostasis
Cellular component: mitochondrial inner membrane;mitochondrial matrix
Molecular function: protein binding;ribosome binding