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	134145
Gene name	ATP synthase c subunit lysine N-methyltransferase
Gene symbol	ATPSCKMT
Synonyms (NCBI Gene)	FAM173BJS-2hFAM173B
Chromosome	5
Chromosome location	5p15.2

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	30530489
GO:0005739	Component	Mitochondrion	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IBA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	29444090
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IMP	30530489
GO:0016740	Function	Transferase activity	IEA
GO:0018022	Process	Peptidyl-lysine methylation	IDA	29444090
GO:0018023	Process	Peptidyl-lysine trimethylation	IMP	30530489
GO:0030061	Component	Mitochondrial crista	IDA	29444090
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032259	Process	Methylation	IEA
GO:1904058	Process	Positive regulation of sensory perception of pain	IBA
GO:1904058	Process	Positive regulation of sensory perception of pain	IEA
GO:1904058	Process	Positive regulation of sensory perception of pain	IMP	29444090
GO:1905273	Process	Positive regulation of proton-transporting ATP synthase activity, rotational mechanism	IMP	30530489
GO:1905706	Process	Regulation of mitochondrial ATP synthesis coupled proton transport	IBA
GO:1905706	Process	Regulation of mitochondrial ATP synthesis coupled proton transport	IEA
GO:1905706	Process	Regulation of mitochondrial ATP synthesis coupled proton transport	IMP	30530489

MIM	HGNC	e!Ensembl
618568	27029	ENSG00000150756

Q6P4H8

Protein name

ATP synthase subunit C lysine N-methyltransferase (EC 2.1.1.-) (Protein N-lysine methyltransferase FAM173B) (hFAM173B)

Protein function

Mitochondrial protein-lysine N-methyltransferase that trimethylates ATP synthase subunit C, ATP5MC1 and ATP5MC2. Trimethylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration (Pu

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:29444090}.

Sequence

MEGGGGIPLETLKEESQSRHVLPASFEVNSLQKSNWGFLLTGLVGGTLVAVYAVATPFVT
PALRKVCLPFVPATTKQIENVVKMLRCRRGSLVDIGSGDGRIVIAAAKKGFTAVGYELNP
WLVWYSRYRAWREGVHGSAKFYISDLWKVTFSQYSNVVIFGVPQMMLQLEKKLERELEDD
ARVIACRFPFPHWTPDHVTGEGIDTVWAYDASTFRGREKRPCTSMHFQLPIQA

Sequence length

233

Interactions

View interactions

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 Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinogenesis	Carcinogenesis	Pubtator	21802380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21802380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21802380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35768571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33067627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	33067627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATPSCKMT (ATP synthase c subunit lysine N-methyltransferase)