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Protein

Cytochrome c-type heme lyase

Gene

HCCS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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: ProtInc
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • cytochrome c-heme linkage Source: GO_Central
  • oxidation-reduction process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS00120-MONOMER.
BRENDAi4.4.1.17. 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:4837. HCCS.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: ProtInc
  • mitochondrion Source: HPA
Complete GO annotation...

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.
See also OMIM:309801
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030823217R → C in LSDMCA1. 1 PublicationCorresponds to variant rs121917889dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi3052.
MalaCardsiHCCS.
MIMi309801. phenotype.
OpenTargetsiENSG00000004961.
Orphaneti2556. Microphthalmia with linear skin defects syndrome.
PharmGKBiPA29214.

Polymorphism and mutation databases

BioMutaiHCCS.
DMDMi1705694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved2 Publications
ChainiPRO_00001217122 – 268Cytochrome c-type heme lyaseAdd BLAST267

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine2 Publications1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

EPDiP53701.
MaxQBiP53701.
PaxDbiP53701.
PeptideAtlasiP53701.
PRIDEiP53701.

PTM databases

iPTMnetiP53701.
PhosphoSitePlusiP53701.
SwissPalmiP53701.

Expressioni

Gene expression databases

BgeeiENSG00000004961.
CleanExiHS_HCCS.
ExpressionAtlasiP53701. baseline and differential.
GenevisibleiP53701. HS.

Organism-specific databases

HPAiHPA002946.

Interactioni

Protein-protein interaction databases

BioGridi109302. 34 interactors.
IntActiP53701. 5 interactors.
STRINGi9606.ENSP00000326579.

Structurei

3D structure databases

ProteinModelPortaliP53701.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati24 – 29HRM 16
Repeati34 – 39HRM 26

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3996. Eukaryota.
ENOG410YAUW. LUCA.
GeneTreeiENSGT00390000004175.
HOGENOMiHOG000170352.
HOVERGENiHBG001566.
InParanoidiP53701.
KOiK01764.
OMAiMRWKYEL.
OrthoDBiEOG091G0JYQ.
PhylomeDBiP53701.
TreeFamiTF105185.

Family and domain databases

InterProiIPR000511. Cyt_C/C1_haem_lyase.
[Graphical view]
PANTHERiPTHR12743. PTHR12743. 1 hit.
PfamiPF01265. Cyto_heme_lyase. 1 hit.
[Graphical view]
PROSITEiPS00821. CYTO_HEME_LYASE_1. 1 hit.
PS00822. CYTO_HEME_LYASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P53701-1 [UniParc]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030823217R → C in LSDMCA1. 1 PublicationCorresponds to variant rs121917889dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U36787 mRNA. Translation: AAB19007.1.
AF053015
, AF053010, AF053011, AF053012, AF053013, 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.
CCDSiCCDS14139.1.
PIRiG02133.
RefSeqiNP_001116080.1. NM_001122608.2.
NP_001165462.1. NM_001171991.2.
NP_005324.3. NM_005333.4.
UniGeneiHs.211571.

Genome annotation databases

EnsembliENST00000321143; ENSP00000326579; ENSG00000004961.
ENST00000380762; ENSP00000370139; ENSG00000004961.
ENST00000380763; ENSP00000370140; ENSG00000004961.
GeneIDi3052.
KEGGihsa:3052.
UCSCiuc004cuj.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U36787 mRNA. Translation: AAB19007.1.
AF053015
, AF053010, AF053011, AF053012, AF053013, 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.
CCDSiCCDS14139.1.
PIRiG02133.
RefSeqiNP_001116080.1. NM_001122608.2.
NP_001165462.1. NM_001171991.2.
NP_005324.3. NM_005333.4.
UniGeneiHs.211571.

3D structure databases

ProteinModelPortaliP53701.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109302. 34 interactors.
IntActiP53701. 5 interactors.
STRINGi9606.ENSP00000326579.

PTM databases

iPTMnetiP53701.
PhosphoSitePlusiP53701.
SwissPalmiP53701.

Polymorphism and mutation databases

BioMutaiHCCS.
DMDMi1705694.

Proteomic databases

EPDiP53701.
MaxQBiP53701.
PaxDbiP53701.
PeptideAtlasiP53701.
PRIDEiP53701.

Protocols and materials databases

DNASUi3052.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321143; ENSP00000326579; ENSG00000004961.
ENST00000380762; ENSP00000370139; ENSG00000004961.
ENST00000380763; ENSP00000370140; ENSG00000004961.
GeneIDi3052.
KEGGihsa:3052.
UCSCiuc004cuj.4. human.

Organism-specific databases

CTDi3052.
DisGeNETi3052.
GeneCardsiHCCS.
GeneReviewsiHCCS.
HGNCiHGNC:4837. HCCS.
HPAiHPA002946.
MalaCardsiHCCS.
MIMi300056. gene.
309801. phenotype.
neXtProtiNX_P53701.
OpenTargetsiENSG00000004961.
Orphaneti2556. Microphthalmia with linear skin defects syndrome.
PharmGKBiPA29214.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3996. Eukaryota.
ENOG410YAUW. LUCA.
GeneTreeiENSGT00390000004175.
HOGENOMiHOG000170352.
HOVERGENiHBG001566.
InParanoidiP53701.
KOiK01764.
OMAiMRWKYEL.
OrthoDBiEOG091G0JYQ.
PhylomeDBiP53701.
TreeFamiTF105185.

Enzyme and pathway databases

BioCyciZFISH:HS00120-MONOMER.
BRENDAi4.4.1.17. 2681.

Miscellaneous databases

ChiTaRSiHCCS. human.
GeneWikiiHCCS_(gene).
GenomeRNAii3052.
PROiP53701.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000004961.
CleanExiHS_HCCS.
ExpressionAtlasiP53701. baseline and differential.
GenevisibleiP53701. HS.

Family and domain databases

InterProiIPR000511. Cyt_C/C1_haem_lyase.
[Graphical view]
PANTHERiPTHR12743. PTHR12743. 1 hit.
PfamiPF01265. Cyto_heme_lyase. 1 hit.
[Graphical view]
PROSITEiPS00821. CYTO_HEME_LYASE_1. 1 hit.
PS00822. CYTO_HEME_LYASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCCHL_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.