P53701 · CCHL_HUMAN
- ProteinHolocytochrome c-type synthase
- GeneHCCS
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids268 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.
Catalytic activity
- holo-[cytochrome c] = apo-[cytochrome c] + heme bThis reaction proceeds in the backward direction.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | membrane | |
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Molecular Function | heme binding | |
Molecular Function | holocytochrome-c synthase activity | |
Molecular Function | metal ion binding | |
Biological Process | animal organ morphogenesis | |
Biological Process | cytochrome c-heme linkage |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHolocytochrome c-type synthase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP53701
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Linear skin defects with multiple congenital anomalies 1 (LSDMCA1)
- Note
- DescriptionA disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
- See alsoMIM:309801
Natural variants in LSDMCA1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083982 | 197-268 | missing | in LSDMCA1; loss of function; loss of localization to mitochondrion | |
VAR_030823 | 217 | R>C | in LSDMCA1; loss of function; no effect on localization to mitochondrion; dbSNP:rs121917889 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 154 | Loss of holocytochrome C synthase activity. Loss of heme-binding. Loss of interaction with cytochrome C. | ||||
Sequence: H → A, G, or Y | ||||||
Natural variant | VAR_083982 | 197-268 | in LSDMCA1; loss of function; loss of localization to mitochondrion | |||
Sequence: Missing | ||||||
Mutagenesis | 211 | No effect on holocytochrome C synthase activity. | ||||
Sequence: H → A, G, C, or Y | ||||||
Natural variant | VAR_030823 | 217 | in LSDMCA1; loss of function; no effect on localization to mitochondrion; dbSNP:rs121917889 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 225 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, lipidation, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Lipidation | 2 | UniProt | N-myristoyl glycine | ||||
Sequence: G | |||||||
Chain | PRO_0000121712 | 2-268 | UniProt | Holocytochrome c-type synthase | |||
Sequence: GLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQFTILDVRPALDSLSAVWDRMKVAWWRWTS | |||||||
Modified residue (large scale data) | 51 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 61 | PRIDE | Phosphotyrosine | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P53701 | AGK Q53H12 | 4 | EBI-10763431, EBI-2269837 | |
BINARY | P53701 | ASCC3 Q8N3C0 | 2 | EBI-10763431, EBI-1210710 | |
BINARY | P53701 | CCK P06307 | 3 | EBI-10763431, EBI-6624398 | |
BINARY | P53701 | CHCHD5 Q9BSY4 | 2 | EBI-10763431, EBI-11521409 | |
BINARY | P53701 | CIDEB Q9UHD4 | 3 | EBI-10763431, EBI-7062247 | |
BINARY | P53701 | SENP2 Q9HC62 | 3 | EBI-10763431, EBI-714881 | |
BINARY | P53701 | SH3GLB1 Q9Y371 | 3 | EBI-10763431, EBI-2623095 | |
BINARY | P53701 | SNX1 Q13596 | 3 | EBI-10763431, EBI-2822329 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-25 | Disordered | ||||
Sequence: MGLSPSAPAVAVQASNASASPPSGC | ||||||
Repeat | 24-29 | HRM 1 | ||||
Sequence: GCPMHE | ||||||
Repeat | 34-39 | HRM 2 | ||||
Sequence: GCPVNT |
Sequence similarities
Belongs to the cytochrome c-type heme lyase family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length268
- Mass (Da)30,602
- Last updated1996-10-01 v1
- Checksum8DC4DA47E444B2FB
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U36787 EMBL· GenBank· DDBJ | AAB19007.1 EMBL· GenBank· DDBJ | mRNA | ||
AF053015 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053010 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053011 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053012 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053013 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053014 EMBL· GenBank· DDBJ | AAC35274.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK097815 EMBL· GenBank· DDBJ | BAG53533.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471074 EMBL· GenBank· DDBJ | EAW98783.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC001691 EMBL· GenBank· DDBJ | AAH01691.1 EMBL· GenBank· DDBJ | mRNA | ||
BC095455 EMBL· GenBank· DDBJ | AAH95455.1 EMBL· GenBank· DDBJ | mRNA |