CKMT1B (creatine kinase, mitochondrial 1B)

Gene

• Entrez ID: 1159
• Gene name: Creatine kinase, mitochondrial 1B
• Gene symbol: CKMT1B
• Synonyms (NCBI Gene): CKMT, CKMT1, UMTCK
• Chromosome: 15
• Chromosome location: 15q15.3
• Summary: Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiqui

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049393	hsa-miR-92a-3p	CLASH	23622248
MIRT894235	hsa-miR-103a	CLIP-seq
MIRT894236	hsa-miR-107	CLIP-seq
MIRT894237	hsa-miR-1207-3p	CLIP-seq
MIRT894238	hsa-miR-1343	CLIP-seq
MIRT894239	hsa-miR-3150a-3p	CLIP-seq
MIRT894240	hsa-miR-3175	CLIP-seq
MIRT894241	hsa-miR-4294	CLIP-seq
MIRT894242	hsa-miR-451b	CLIP-seq
MIRT894243	hsa-miR-4646-5p	CLIP-seq
MIRT894244	hsa-miR-526b	CLIP-seq
MIRT894245	hsa-miR-627	CLIP-seq
MIRT894246	hsa-miR-924	CLIP-seq
MIRT894247	hsa-miR-939	CLIP-seq
MIRT1965148	hsa-miR-198	CLIP-seq
MIRT1965149	hsa-miR-4736	CLIP-seq
MIRT1965150	hsa-miR-486-3p	CLIP-seq
MIRT1965151	hsa-miR-520a-5p	CLIP-seq
MIRT1965152	hsa-miR-525-5p	CLIP-seq
MIRT894238	hsa-miR-1343	CLIP-seq
MIRT2201135	hsa-miR-4468	CLIP-seq
MIRT894243	hsa-miR-4646-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004111	Function	Creatine kinase activity	IBA
GO:0004111	Function	Creatine kinase activity	IEA
GO:0004111	Function	Creatine kinase activity	TAS	2914937
GO:0005515	Function	Protein binding	IPI	32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2914937
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0046314	Process	Phosphocreatine biosynthetic process	IBA
GO:0046314	Process	Phosphocreatine biosynthetic process	IEA

Other IDs

• MIM: 123290
• HGNC: 1995
• e!Ensembl: ENSG00000237289

Interactions View interactions

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways

Reactome:

Creatine metabolism

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
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	18485002		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36921106	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	16166745		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31312141		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	17098888	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 16	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 16	Deafness	CLINVAR_DG	11687802, 21078986, 25157971, 26011646, 26746617		★☆☆☆☆ Found in Text Mining only
Deafness, Sensorineural, And Male Infertility	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33465115	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26516695		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35022556	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	17098888	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	16952984		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28191887		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30507333		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30507333		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16479256		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure 7	Spermatogenic Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16479256		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26516695		★☆☆☆☆ Found in Text Mining only