Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
171425
Gene name Gene Name - the full gene name approved by the HGNC.
Citramalyl-CoA lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLYBL
Synonyms (NCBI Gene) Gene synonyms aliases
CLB
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039139 hsa-miR-769-5p CLASH 23622248
MIRT898310 hsa-miR-1185 CLIP-seq
MIRT898311 hsa-miR-1224-3p CLIP-seq
MIRT898312 hsa-miR-1260 CLIP-seq
MIRT898313 hsa-miR-1260b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 24334609, 29056341
GO:0003824 Function Catalytic activity IEA
GO:0004474 Function Malate synthase activity IDA 24334609, 29056341
GO:0004474 Function Malate synthase activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609686 18355 ENSG00000125246
Protein
UniProt ID Q8N0X4
Protein name Citramalyl-CoA lyase, mitochondrial (EC 4.1.3.25) ((3S)-malyl-CoA thioesterase) (EC 3.1.2.30) (Beta-methylmalate synthase) (EC 2.3.3.-) (Citrate lyase subunit beta-like protein) (Citrate lyase beta-like) (Malate synthase) (EC 2.3.3.9)
Protein function Mitochondrial citramalyl-CoA lyase indirectly involved in the vitamin B12 metabolism (PubMed:29056341). Converts citramalyl-CoA into acetyl-CoA and pyruvate in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catab
PDB 5VXC , 5VXO , 5VXS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03328 HpcH_HpaI 46 274 HpcH/HpaI aldolase/citrate lyase family Family
Sequence
Sequence length 340
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 32475872
COVID 19 Stimulate 35290573
Infections Associate 30391630
Inflammation Associate 35290573
Melanoma Associate 2070066
Neoplasms Associate 32475872
Parkinson Disease Associate 23351342
Tuberculosis Associate 15699433
Urinary Tract Infections Associate 30391630