Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3052
Gene name Gene Name - the full gene name approved by the HGNC.
Holocytochrome c synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HCCS
Synonyms (NCBI Gene) Gene synonyms aliases
CCHL, LSDMCA1, MCOPS7, MLS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LSDMCA1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121917888 C>T Pathogenic Coding sequence variant, stop gained
rs121917889 C>T Pathogenic Coding sequence variant, missense variant
rs144641429 G>A Conflicting-interpretations-of-pathogenicity, benign Missense variant, 5 prime UTR variant, coding sequence variant
rs193929392 G>A Pathogenic Missense variant, coding sequence variant
rs367601527 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020136 hsa-miR-130b-3p Sequencing 20371350
MIRT023250 hsa-miR-122-5p Proteomics 21750653
MIRT025988 hsa-miR-148a-3p Sequencing 20371350
MIRT027992 hsa-miR-93-5p Sequencing 20371350
MIRT124918 hsa-miR-4524b-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004408 Function Holocytochrome-c synthase activity IBA 21873635
GO:0004408 Function Holocytochrome-c synthase activity IDA 23150584
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 11827457
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300056 4837 ENSG00000004961
Protein
UniProt ID P53701
Protein name Holocytochrome c-type synthase (EC 4.4.1.17) (Cytochrome c-type heme lyase)
Protein function Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01265 Cyto_heme_lyase 3 263 Cytochrome c/c1 heme lyase Family
Sequence
Sequence length 268
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Porphyrin metabolism
Metabolic pathways
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Specific learning disorder Specific learning disability ClinVar
Multiple Congenital Anomalies linear skin defects with multiple congenital anomalies, linear skin defects with multiple congenital anomalies 1 GenCC
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 35243551
Amelogenesis imperfecta local hypoplastic form Associate 35243551
Amyotrophic Lateral Sclerosis Inhibit 27282955
Aniridia Associate 39766903
Anophthalmos Associate 39766903
Aphakia congenital primary Associate 39766903
Autism Spectrum Disorder Associate 25182979
Autistic Disorder Associate 25182979
Cardiomyopathy Dilated with Left Ventricular Noncompaction Associate 35893073
Chromosome Aberrations Associate 24735900