Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	132001
Gene name	TAM41 mitochondrial translocator assembly and maintenance homolog
Gene symbol	TAMM41
Synonyms (NCBI Gene)	C3orf31COXPD56RAM41TAM41
Chromosome	3
Chromosome location	3p25.2

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
614948	25187	ENSG00000144559

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

Interactions

View interactions

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Pathogenic	rs934260435	RCV005931953
Bilateral ptosis	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174
Combined oxidative phosphorylation deficiency 56	Pathogenic	rs2125058823, rs768826552, rs775491404, rs934260435	RCV002463025 RCV002463026 RCV002461607 RCV002461608
Dysphagia	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174
Gastroesophageal reflux	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174
Respiratory failure	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal facial shape	Uncertain significance	rs199871047, rs780204589	RCV001728171 RCV001728172
Ankle flexion contracture	Uncertain significance	rs199871047, rs780204589	RCV001728171 RCV001728172
Combined oxidative phosphorylation deficiency	Uncertain significance	rs199871047, rs780204589	RCV004797632 RCV004797633
Neonatal hypotonia	Uncertain significance	rs199871047, rs780204589	RCV001728171 RCV001728172
Proximal muscle weakness	Uncertain significance	rs199871047, rs780204589	RCV001728171 RCV001728172
TAMM41-related condition	Uncertain significance	rs139131628	RCV004758924

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Inhibit	34152079
Cognition Disorders	Associate	34152079

TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog)