TIMM44 (translocase of inner mitochondrial membrane 44)

Gene

• Entrez ID: 10469
• Gene name: Translocase of inner mitochondrial membrane 44
• Gene symbol: TIMM44
• Synonyms (NCBI Gene): TIM44
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044237	hsa-miR-29c-3p	CLASH	23622248
MIRT1425050	hsa-miR-1207-5p	CLIP-seq
MIRT1425051	hsa-miR-122	CLIP-seq
MIRT1425052	hsa-miR-1909	CLIP-seq
MIRT1425053	hsa-miR-22	CLIP-seq
MIRT1425054	hsa-miR-3648	CLIP-seq
MIRT1425055	hsa-miR-3925-3p	CLIP-seq
MIRT1425056	hsa-miR-4267	CLIP-seq
MIRT1425057	hsa-miR-4436b-3p	CLIP-seq
MIRT1425058	hsa-miR-4763-3p	CLIP-seq
MIRT1425059	hsa-miR-766	CLIP-seq
MIRT2127380	hsa-miR-3124-3p	CLIP-seq
MIRT2642472	hsa-miR-1205	CLIP-seq
MIRT2642473	hsa-miR-125a-3p	CLIP-seq
MIRT1425052	hsa-miR-1909	CLIP-seq
MIRT2642474	hsa-miR-3195	CLIP-seq
MIRT2642475	hsa-miR-3661	CLIP-seq
MIRT1425057	hsa-miR-4436b-3p	CLIP-seq
MIRT2642476	hsa-miR-4726-3p	CLIP-seq
MIRT2642477	hsa-miR-631	CLIP-seq
MIRT2642478	hsa-miR-892a	CLIP-seq
MIRT2642472	hsa-miR-1205	CLIP-seq
MIRT1425050	hsa-miR-1207-5p	CLIP-seq
MIRT2642473	hsa-miR-125a-3p	CLIP-seq
MIRT2693194	hsa-miR-1291	CLIP-seq
MIRT1425052	hsa-miR-1909	CLIP-seq
MIRT2642474	hsa-miR-3195	CLIP-seq
MIRT2693195	hsa-miR-328	CLIP-seq
MIRT2642475	hsa-miR-3661	CLIP-seq
MIRT1425057	hsa-miR-4436b-3p	CLIP-seq
MIRT2642476	hsa-miR-4726-3p	CLIP-seq
MIRT1425058	hsa-miR-4763-3p	CLIP-seq
MIRT2642477	hsa-miR-631	CLIP-seq
MIRT2642478	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0005515	Function	Protein binding	IPI	12620389, 25416956, 25910212, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	10339406, 20053669
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	10339406
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IDA	30598479
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	NAS	10339406
GO:0005759	Component	Mitochondrial matrix	IDA	10339406
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006626	Process	Protein targeting to mitochondrion	TAS	10339406
GO:0006886	Process	Intracellular protein transport	NAS	10339406
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IBA
GO:0030150	Process	Protein import into mitochondrial matrix	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0051087	Function	Protein-folding chaperone binding	IBA
GO:0051087	Function	Protein-folding chaperone binding	IEA

Other IDs

• MIM: 605058
• HGNC: 17316
• e!Ensembl: ENSG00000104980

Protein

• UniProt ID: O43615
• Protein name: Mitochondrial import inner membrane translocase subunit TIM44
• Protein function: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Recruits mitochondrial HSP7
• PDB: 2CW9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04280	Tim44	296 → 445	Tim44-like domain	Domain

• Sequence:

  MAAAALRSGWCRCPRRCLGSGIQFLSSHNLPHGSTYQMRRPGGELPLSKSYSSGNRKGFL
  SGLLDNVKQELAKNKEMKESIKKFRDEARRLEESDVLQEARRKYKTIESETVRTSEVLRK
  KLGELTGTVKESLHEVSKSDLGRKIKEGVEEAAKTAKQSAESVSKGGEKLGRTAAFRALS
  QGVESVKKEIDDSVLGQTGPYRRPQRLRKRTEFAGDKFKEEKVFEPNEEALGVVLHKDSK
  WYQQWKDFKENNVVFNRFFEMKMKYDESDNAFIRASRALTDKVTDLLGGLFSKTEMSEVL
  TEILRVDPAFDKDRFLKQCENDIIPNVLEAMISGELDILKDWCYEATYSQLAHPIQQAKA
  LGLQFHSRILDIDNVDLAMGKMMEQGPVLIITFQAQLVMVVRNPKGEVVEGDPDKVLRML
  YVWALCRDQDELNPYAAWRLLDISASSTEQIL

• Sequence length: 452

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ 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	29080556		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27849558		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16186389		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16186389		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25749183		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16510762		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29080556		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17088905, 27058892		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25749183		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	17088905		★☆☆☆☆ Found in Text Mining only