IMMP1L (inner mitochondrial membrane peptidase subunit 1)

Gene

• Entrez ID: 196294
• Gene name: Inner mitochondrial membrane peptidase subunit 1
• Gene symbol: IMMP1L
• Synonyms (NCBI Gene): IMMP1, IMP1, IMP1-LIKE
• Chromosome: 11
• Chromosome location: 11p13
• Summary: The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1065597	hsa-miR-1305	CLIP-seq
MIRT1065598	hsa-miR-23a	CLIP-seq
MIRT1065599	hsa-miR-23b	CLIP-seq
MIRT1065600	hsa-miR-23c	CLIP-seq
MIRT1065601	hsa-miR-4428	CLIP-seq
MIRT1065602	hsa-miR-4717-3p	CLIP-seq
MIRT1065603	hsa-miR-602	CLIP-seq
MIRT1065604	hsa-miR-95	CLIP-seq
MIRT1065597	hsa-miR-1305	CLIP-seq
MIRT1065603	hsa-miR-602	CLIP-seq
MIRT1065604	hsa-miR-95	CLIP-seq
MIRT1065597	hsa-miR-1305	CLIP-seq
MIRT1065603	hsa-miR-602	CLIP-seq
MIRT1065604	hsa-miR-95	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	15814844
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	32443488
GO:0006465	Process	Signal peptide processing	IEA
GO:0006465	Process	Signal peptide processing	NAS	32443488
GO:0006508	Process	Proteolysis	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	IBA
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	NAS	32443488

Other IDs

• MIM: 612323
• HGNC: 26317
• e!Ensembl: ENSG00000148950

Protein

• UniProt ID: Q96LU5
• Protein name: Mitochondrial inner membrane protease subunit 1 (EC 3.4.21.-) (IMP1-like protein)
• Protein function: Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. {ECO:0000269|PubMed:15
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10502	Peptidase_S26	10 → 99	Signal peptidase, peptidase S26	Domain
  PF10502	Peptidase_S26	94 → 146	Signal peptidase, peptidase S26	Domain

• Sequence:

  MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHF
  YGIQRGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNL
  QNSTDSRCYGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD

• Sequence length: 166

Pathways

KEGG:

Protein export

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	25193695, 29669595		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17255263, 28846937		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21618519, 24872956		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23911878		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21252116		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30407516		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	28408304		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	28408304		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	26194191		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	26194191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29669595		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17255263, 28846937		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17546046, 21618519, 24872956		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15769738, 17255263, 26194191, 28846937, 30864660		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21252116		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29771420		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28846937, 30543563		★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	26206691		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15769738, 17255263, 26194191		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26449484	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21618519, 24872956		★☆☆☆☆ Found in Text Mining only