MIPEP (mitochondrial intermediate peptidase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4285
Gene name Mitochondrial intermediate peptidase
Gene symbol MIPEP
Synonyms (NCBI Gene)
COXPD31HMIPMIP
Chromosome 13
Chromosome location 13q12.12
Summary The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs114638163 C>A,T Benign, pathogenic Stop gained, missense variant, coding sequence variant
rs143912947 G>A Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs779598020 G>C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs780533096 C>G,T Likely-pathogenic Coding sequence variant, missense variant
rs1057518739 A>C Uncertain-significance, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT032395 hsa-let-7b-5p Proteomics 18668040
MIRT2042497 hsa-miR-1179 CLIP-seq
MIRT2042498 hsa-miR-3137 CLIP-seq
MIRT2042499 hsa-miR-4528 CLIP-seq
MIRT2042500 hsa-miR-4729 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS 9073519
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602241 7104 ENSG00000027001
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99797
Protein name Mitochondrial intermediate peptidase (MIP) (EC 3.4.24.59)
Protein function Cleaves proteins, imported into the mitochondrion, to their mature size.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01432 Peptidase_M3 254 → 699 Peptidase family M3 Family
Sequence
Sequence length 713
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy Pathogenic rs114638163 RCV000608526
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Floppy infant Pathogenic rs114638163 RCV000608526
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction Pathogenic rs114638163 RCV000608526
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Likely pathogenic; Pathogenic rs1869287041, rs780379456, rs114638163, rs780915621, rs2547645010, rs780533096, rs773688171, rs866158774, rs1408067328 RCV001580279
RCV002470375
RCV000412565
RCV003231014
RCV004547305
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (173)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 14759987
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31448219
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 18249060
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28743265
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 34706496 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 27838552, 29437638, 30216683
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankyloglossia Ankyloglossia CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type I Arnold-Chiari malformation CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 16022659
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28332277
★★★★★
★☆☆☆☆
Found in Text Mining only