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

Complete GO annotation...

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

Complete GO annotation...

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.

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. 38 interactors.
IntActⁱ	P53701. 21 interactors.
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

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 K7DKZ2	Homo sapiens (Human) Pan troglodytes (Chimpanzee)	268	UniRef100_P53701	Cluster: Cytochrome c-type heme lyase	3

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 K7DKZ2 A5PJG7 L8I4R6 W5PM66 UPI00042CC8EA UPI00084793A6 UPI000A1BBB7E G9L0C8 F6YF82 +36	Homo sapiens (Human) Pan troglodytes (Chimpanzee) Bos taurus (Bovine) Bos mutus (wild yak) Ovis aries (Sheep) Bubalus bubalis (Domestic water buffalo) Capra hircus (Goat) Odocoileus virginianus texanus Mustela putorius furo (European domestic ferret) (Mustela furo) Equus caballus (Horse) And more	268	UniRef90_P53701	Cluster: Cytochrome c-type heme lyase	47

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P53701	A0A024RBY9 K7DKZ2 W5PM66 A5PJG7 L8I4R6 UPI00042CC8EA UPI00084793A6 UPI000A1BBB7E UPI000905AEFE UPI00063FCF75 +119	Homo sapiens (Human) Pan troglodytes (Chimpanzee) Ovis aries (Sheep) Bos taurus (Bovine) Bos mutus (wild yak) Bubalus bubalis (Domestic water buffalo) Capra hircus (Goat) Odocoileus virginianus texanus Panthera pardus (Leopard) (Felis pardus) Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli) And more	268	UniRef50_P53701	Cluster: Cytochrome c-type heme lyase	130

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. 38 interactors.
IntActⁱ	P53701. 21 interactors.
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:	September 27, 2017
	This is version 155 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

Documents

Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

UniProtKB

UniParc

Help

UniRef

Proteomes

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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

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

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ