UniProtKB - P53701 (CCHL_HUMAN)
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Protein
Cytochrome c-type heme lyase
Gene
HCCS
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- animal organ morphogenesis Source: ProtInc
- cytochrome c-heme linkage Source: GO_Central
- oxidation-reduction process Source: ProtInc
Keywordsi
Molecular function | Lyase |
Ligand | Heme, Iron, Metal-binding |
Enzyme and pathway databases
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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000004961.14. |
HGNCi | HGNC:4837. HCCS. |
MIMi | 300056. gene. |
neXtProti | NX_P53701. |
Subcellular locationi
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & 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:309801Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030823 | 217 | R → C in LSDMCA1. 1 PublicationCorresponds to variant dbSNP:rs121917889Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, MicrophthalmiaOrganism-specific databases
DisGeNETi | 3052. |
GeneReviewsi | HCCS. |
MalaCardsi | HCCS. |
MIMi | 309801. phenotype. |
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, MyristateProteomic databases
EPDi | P53701. |
MaxQBi | P53701. |
PaxDbi | P53701. |
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
HPAi | HPA002946. |
Interactioni
Protein-protein interaction databases
BioGridi | 109302. 52 interactors. |
IntActi | P53701. 21 interactors. |
MINTi | P53701. |
STRINGi | 9606.ENSP00000326579. |
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
RepeatPhylogenomic databases
eggNOGi | KOG3996. Eukaryota. ENOG410YAUW. LUCA. |
GeneTreei | ENSGT00390000004175. |
HOGENOMi | HOG000170352. |
HOVERGENi | HBG001566. |
InParanoidi | P53701. |
KOi | K01764. |
OMAi | IDYYSAP. |
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. |
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. |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P53701-1 [UniParc]FASTAAdd to basket
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
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. |
CCDSi | CCDS14139.1. |
PIRi | G02133. |
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. |
UCSCi | uc004cuj.4. human. |
Similar proteinsi
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: | March 28, 2018 | |
This is version 158 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. |