HCCS

Functionⁱ

Links covalently the heme group to the apoprotein of cytochrome c.By similarity

Catalytic activityⁱ

Holocytochrome c = apocytochrome c + heme.

GO - Molecular functionⁱ

holocytochrome-c synthase activity Source: GO_Central
metal ion binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 8661044
cytochrome c-heme linkage Source: GO_Central
oxidation-reduction process
Source: ProtInc
Traceable author statementⁱ
- 8661044

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Lyase
Ligand	Heme, Iron, Metal-binding

Enzyme and pathway databases

BRENDAⁱ	4.4.1.17 2681

BRENDAⁱ

4.4.1.17 2681

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Cytochrome c-type heme lyase (EC:4.4.1.17) Short name: CCHL Alternative name(s): Holocytochrome c-type synthase
Gene namesⁱ	Name:HCCS Synonyms:CCHL
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000004961.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4837 HCCS
MIMⁱ	300056 gene
neXtProtⁱ	NX_P53701

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Linear skin defects with multiple congenital anomalies 1 (LSDMCA1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease 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, mental retardation, 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.

Keywords - Diseaseⁱ

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3052
GeneReviewsⁱ	HCCS
MalaCards human disease database More...MalaCardsⁱ	HCCS
MIMⁱ	309801 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000004961
Orphanetⁱ	2556 Microphthalmia with linear skin defects syndrome
PharmGKBⁱ	PA29214

Polymorphism and mutation databases

BioMutaⁱ	HCCS
DMDMⁱ	1705694

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		Removed2 Publications
ChainⁱPRO_0000121712	2 – 268	Cytochrome c-type heme lyaseAdd BLAST		267

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Lipidationⁱ	2	N-myristoyl glycine2 Publications		1

Keywords - PTMⁱ

Lipoprotein, Myristate

Proteomic databases

EPDⁱ	P53701
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P53701
PaxDbⁱ	P53701
PeptideAtlas More...PeptideAtlasⁱ	P53701
PRIDEⁱ	P53701

PTM databases

iPTMnetⁱ	P53701
PhosphoSitePlusⁱ	P53701
SwissPalmⁱ	P53701

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000004961
CleanExⁱ	HS_HCCS
ExpressionAtlasⁱ	P53701 baseline and differential
Genevisibleⁱ	P53701 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA002946

HPAⁱ

HPA002946

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	109302, 53 interactors
IntActⁱ	P53701, 21 interactors
Molecular INTeraction database More...MINTⁱ	P53701
STRINGⁱ	9606.ENSP00000326579

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P53701
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Repeatⁱ	24 – 29	HRM 1		6
Repeatⁱ	34 – 39	HRM 2		6

Sequence similaritiesⁱ

Belongs to the cytochrome c-type heme lyase family.Curated

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG3996 Eukaryota ENOG410YAUW LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004175
HOGENOMⁱ	HOG000170352
HOVERGENⁱ	HBG001566
InParanoidⁱ	P53701
KEGG Orthology (KO) More...KOⁱ	K01764
OMAⁱ	IDYYSAP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0JYQ
PhylomeDBⁱ	P53701
TreeFamⁱ	TF105185

Family and domain databases

InterProⁱ	View protein in InterPro IPR000511 Cyt_C/C1_haem_lyase
PANTHERⁱ	PTHR12743 PTHR12743, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01265 Cyto_heme_lyase, 1 hit
PROSITEⁱ	View protein in PROSITE PS00821 CYTO_HEME_LYASE_1, 1 hit PS00822 CYTO_HEME_LYASE_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

P53701-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGLSPSAPAV AVQASNASAS PPSGCPMHEG KMKGCPVNTE PSGPTCEKKT 
        60         70         80         90        100
YSVPAHQERA YEYVECPIRG TAAENKENLD PSNLMPPPNQ TPAPDQPFAL 
       110        120        130        140        150
STVREESSIP RADSEKKWVY PSEQMFWNAM LKKGWKWKDE DISQKDMYNI 
       160        170        180        190        200
IRIHNQNNEQ AWKEILKWEA LHAAECPCGP SLIRFGGKAK EYSPRARIRS 
       210        220        230        240        250
WMGYELPFDR HDWIINRCGT EVRYVIDYYD GGEVNKDYQF TILDVRPALD 
       260 
SLSAVWDRMK VAWWRWTS

Length:268

Mass (Da):30,602

Last modified:October 1, 1996 - v1

Checksum:ⁱ8DC4DA47E444B2FB

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_030823	217	R → C in LSDMCA1. 1 PublicationCorresponds to variant dbSNP:rs121917889Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U36787 mRNA Translation: AAB19007.1 AF053015 AF053014 Genomic DNA Translation: AAC35274.1 AK097815 mRNA Translation: BAG53533.1 CH471074 Genomic DNA Translation: EAW98783.1 BC001691 mRNA Translation: AAH01691.1 BC095455 mRNA Translation: AAH95455.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14139.1
PIRⁱ	G02133
NCBI Reference Sequences More...RefSeqⁱ	NP_001116080.1, NM_001122608.2 NP_001165462.1, NM_001171991.2 NP_005324.3, NM_005333.4
UniGeneⁱ	Hs.211571

Genome annotation databases

Ensemblⁱ	ENST00000321143; ENSP00000326579; ENSG00000004961 ENST00000380762; ENSP00000370139; ENSG00000004961 ENST00000380763; ENSP00000370140; ENSG00000004961
GeneIDⁱ	3052
KEGGⁱ	hsa:3052
UCSC genome browser More...UCSCⁱ	uc004cuj.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 A0A2J8KUJ0 K7DKZ2	Homo sapiens (Human) Pan troglodytes (Chimpanzee)	268	UniRef100_P53701	Cluster: Cytochrome c-type heme lyase	4

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 A0A2J8KUJ0 K7DKZ2 UPI000CA05AD9 UPI0002C44B00 F6YF82 UPI0002C63343 A0A2K6G2S7 UPI00045D73BB UPI0004D0A0D5 +11	Homo sapiens (Human) Pan troglodytes (Chimpanzee) Trichechus manatus latirostris (Florida manatee) Equus caballus (Horse) Ceratotherium simum simum (southern white rhinoceros) Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli) Orycteropus afer afer Galeopterus variegatus (Malayan flying lemur) (Cynocephalus variegatus) Tarsius syrichta (Philippine tarsier) Marmota marmota marmota (Alpine marmot) And more	268	UniRef90_P53701	Cluster: Cytochrome c-type heme lyase	22

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 A0A2J8KUJ0 K7DKZ2 UPI000CA05AD9 UPI0002C44B00 UPI00045D73BB F6YF82 A0A1U7SGD9 UPI0004D0A0D5 A0A2K6G2S7 +70	Homo sapiens (Human) Pan troglodytes (Chimpanzee) Trichechus manatus latirostris (Florida manatee) Orycteropus afer afer Equus caballus (Horse) Tarsius syrichta (Philippine tarsier) Galeopterus variegatus (Malayan flying lemur) (Cynocephalus variegatus) Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli) Ceratotherium simum simum (southern white rhinoceros) Marmota marmota marmota (Alpine marmot) And more	268	UniRef50_P53701	Cluster: Cytochrome c-type heme lyase	81

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U36787 mRNA Translation: AAB19007.1 AF053015 AF053014 Genomic DNA Translation: AAC35274.1 AK097815 mRNA Translation: BAG53533.1 CH471074 Genomic DNA Translation: EAW98783.1 BC001691 mRNA Translation: AAH01691.1 BC095455 mRNA Translation: AAH95455.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14139.1
PIRⁱ	G02133
NCBI Reference Sequences More...RefSeqⁱ	NP_001116080.1, NM_001122608.2 NP_001165462.1, NM_001171991.2 NP_005324.3, NM_005333.4
UniGeneⁱ	Hs.211571

3D structure databases

ProteinModelPortalⁱ	P53701
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109302, 53 interactors
IntActⁱ	P53701, 21 interactors
Molecular INTeraction database More...MINTⁱ	P53701
STRINGⁱ	9606.ENSP00000326579

PTM databases

iPTMnetⁱ	P53701
PhosphoSitePlusⁱ	P53701
SwissPalmⁱ	P53701

Polymorphism and mutation databases

BioMutaⁱ	HCCS
DMDMⁱ	1705694

Proteomic databases

EPDⁱ	P53701
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P53701
PaxDbⁱ	P53701
PeptideAtlas More...PeptideAtlasⁱ	P53701
PRIDEⁱ	P53701

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	3052
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000321143; ENSP00000326579; ENSG00000004961 ENST00000380762; ENSP00000370139; ENSG00000004961 ENST00000380763; ENSP00000370140; ENSG00000004961
GeneIDⁱ	3052
KEGGⁱ	hsa:3052
UCSC genome browser More...UCSCⁱ	uc004cuj.4 human

Organism-specific databases

CTDⁱ	3052
DisGeNET More...DisGeNETⁱ	3052
EuPathDBⁱ	HostDB:ENSG00000004961.14
GeneCardsⁱ	HCCS
GeneReviewsⁱ	HCCS
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4837 HCCS
Human Protein Atlas More...HPAⁱ	HPA002946
MalaCards human disease database More...MalaCardsⁱ	HCCS
MIMⁱ	300056 gene 309801 phenotype
neXtProtⁱ	NX_P53701
Open Targets More...OpenTargetsⁱ	ENSG00000004961
Orphanetⁱ	2556 Microphthalmia with linear skin defects syndrome
PharmGKBⁱ	PA29214
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3996 Eukaryota ENOG410YAUW LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004175
HOGENOMⁱ	HOG000170352
HOVERGENⁱ	HBG001566
InParanoidⁱ	P53701
KEGG Orthology (KO) More...KOⁱ	K01764
OMAⁱ	IDYYSAP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0JYQ
PhylomeDBⁱ	P53701
TreeFamⁱ	TF105185

Enzyme and pathway databases

BRENDAⁱ	4.4.1.17 2681

BRENDAⁱ

4.4.1.17 2681

Miscellaneous databases

ChiTaRSⁱ	HCCS human
GeneWikiⁱ	HCCS_(gene)
GenomeRNAiⁱ	3052
Protein Ontology More...PROⁱ	PR:P53701
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000004961
CleanExⁱ	HS_HCCS
ExpressionAtlasⁱ	P53701 baseline and differential
Genevisibleⁱ	P53701 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000511 Cyt_C/C1_haem_lyase
PANTHERⁱ	PTHR12743 PTHR12743, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01265 Cyto_heme_lyase, 1 hit
PROSITEⁱ	View protein in PROSITE PS00821 CYTO_HEME_LYASE_1, 1 hit PS00822 CYTO_HEME_LYASE_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CCHL_HUMAN
Accessionⁱ	P53701Primary (citable) accession number: P53701 Secondary accession number(s): B3KUS1, Q502X8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
	Last sequence update:	October 1, 1996
	Last modified:	April 25, 2018
	This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

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UniParc

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UniRef

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Annotation systems

Supporting data

UniProtKB - P53701 (CCHL_HUMAN)

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Cytochrome c-type heme lyase

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Other locations

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ