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Protein

Cytochrome c-type heme lyase

Gene

HCCS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

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

Keywordsi

Molecular functionLyase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000004961.14
HGNCiHGNC:4837 HCCS
MIMi300056 gene
neXtProtiNX_P53701

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs121917889EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi3052
GeneReviewsiHCCS
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
ProteomicsDBi56613

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, 53 interactors
IntActiP53701, 29 interactors
MINTiP53701
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
OMAiIDYYSAP
OrthoDBiEOG091G0JYQ
PhylomeDBiP53701
TreeFamiTF105185

Family and domain databases

InterProiView protein in InterPro
IPR000511 Cyt_C/C1_haem_lyase
PANTHERiPTHR12743 PTHR12743, 1 hit
PfamiView protein in Pfam
PF01265 Cyto_heme_lyase, 1 hit
PROSITEiView 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]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 dbSNP:rs121917889EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiCCHL_HUMAN
AccessioniPrimary (citable) accession number: P53701
Secondary accession number(s): B3KUS1, Q502X8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 18, 2018
This is version 162 of the entry and version 1 of the sequence. See 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

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