TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog)

Gene

• Entrez ID: 132001
• Gene name: TAM41 mitochondrial translocator assembly and maintenance homolog
• Gene symbol: TAMM41
• Synonyms (NCBI Gene): C3orf31, COXPD56, RAM41, TAM41
• Chromosome: 3
• Chromosome location: 3p25.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	IBA
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	IEA
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	27499296
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	38322995
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IBA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032049	Process	Cardiolipin biosynthetic process	IBA
GO:0032049	Process	Cardiolipin biosynthetic process	IEA
GO:0032049	Process	Cardiolipin biosynthetic process	ISS
GO:0032049	Process	Cardiolipin biosynthetic process	TAS	38322995

Other IDs

• MIM: 614948
• HGNC: 25187
• e!Ensembl: ENSG00000144559

Protein

• UniProt ID: Q96BW9
• Protein name: Phosphatidate cytidylyltransferase, mitochondrial (EC 2.7.7.41) (CDP-diacylglycerol synthase) (CDP-DAG synthase) (Mitochondrial translocator assembly and maintenance protein 41 homolog) (TAM41)
• Protein function: Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09139	Tam41_Mmp37	13 → 325	Phosphatidate cytidylyltransferase, mitochondrial	Family

• Sequence:

  MALQTLQSSWVTFRKILSHFPEELSLAFVYGSGVYRQAGPSSDQKNAMLDFVFTVDDPVA
  WHSKNLKKNWSHYSFLKVLGPKIITSIQNNYGAGVYYNSLIMCNGRLIKYGVISTNVLIE
  DLLNWNNLYIAGRLQKPVKIISVNEDVTLRSALDRNLKSAVTAAFLMLPESFSEEDLFIE
  IAGLSYSGDFRMVVGEDKTKVLNIVKPNIAHFRELYGSILQENPQVVYKSQQGWLEIDKS
  PEGQFTQLMTLPKTLQQQINHIMDPPGKNRDVEETLFQVAHDPDCGDVVRLGLSAIVRPS
  SIRQSTKGIFTAGKSFGNPCVTYLLTEWLPHSWLQCKALYLLGACEMLSFDGHKLGYCSK
  VQTGITAAEPGGRTMSDHWQCCWKLYCPSEFSETLPVCRVFPSYCFIYQSYRCIGLQKQQ
  HLCSPSSSPSLRQLLPSVLVGYFCCYCHFSKW

• 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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Pathogenic	rs934260435	RCV005931953	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral ptosis	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 56	Pathogenic	rs2125058823, rs768826552, rs775491404, rs934260435	RCV002463025 RCV002463026 RCV002461607 RCV002461608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysphagia	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastroesophageal reflux	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory failure	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal facial shape	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankle flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGLUTITION DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAMM41-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	34152079	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30824836		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34152079	Associate	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30824836		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30824836		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	9806839		★☆☆☆☆ Found in Text Mining only