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P53701

- CCHL_HUMAN

UniProt

P53701 - CCHL_HUMAN

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Protein

Cytochrome c-type heme lyase

Gene

HCCS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. holocytochrome-c synthase activity Source: ProtInc
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. organ morphogenesis Source: ProtInc
  2. oxidation-reduction process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Ligandi

Heme, 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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:4837. HCCS.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: ProtInc
  2. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, syndromic, 7 (MCOPS7) [MIM:309801]: A disease characterized by 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171R → C in MCOPS7. 1 Publication
VAR_030823

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

MIMi309801. phenotype.
Orphaneti2556. Microphthalmia with linear skin defects syndrome.
PharmGKBiPA29214.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 268268Cytochrome c-type heme lyasePRO_0000121712Add
BLAST

Proteomic databases

MaxQBiP53701.
PaxDbiP53701.
PeptideAtlasiP53701.
PRIDEiP53701.

PTM databases

PhosphoSiteiP53701.

Expressioni

Gene expression databases

BgeeiP53701.
CleanExiHS_HCCS.
GenevestigatoriP53701.

Organism-specific databases

HPAiHPA002946.

Interactioni

Protein-protein interaction databases

BioGridi109302. 18 interactions.
STRINGi9606.ENSP00000326579.

Structurei

3D structure databases

ProteinModelPortaliP53701.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 296HRM 1
Repeati34 – 396HRM 2

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG236101.
GeneTreeiENSGT00390000004175.
HOGENOMiHOG000170352.
HOVERGENiHBG001566.
InParanoidiP53701.
KOiK01764.
OMAiNNELEHP.
OrthoDBiEOG7BGHM9.
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.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171R → C in MCOPS7. 1 Publication
VAR_030823

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.3. human.

Polymorphism databases

DMDMi1705694.

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 .
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi 109302. 18 interactions.
STRINGi 9606.ENSP00000326579.

PTM databases

PhosphoSitei P53701.

Polymorphism databases

DMDMi 1705694.

Proteomic databases

MaxQBi P53701.
PaxDbi P53701.
PeptideAtlasi P53701.
PRIDEi P53701.

Protocols and materials databases

DNASUi 3052.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321143 ; ENSP00000326579 ; ENSG00000004961 .
ENST00000380762 ; ENSP00000370139 ; ENSG00000004961 .
ENST00000380763 ; ENSP00000370140 ; ENSG00000004961 .
GeneIDi 3052.
KEGGi hsa:3052.
UCSCi uc004cuj.3. human.

Organism-specific databases

CTDi 3052.
GeneCardsi GC0XP011129.
GeneReviewsi HCCS.
HGNCi HGNC:4837. HCCS.
HPAi HPA002946.
MIMi 300056. gene.
309801. phenotype.
neXtProti NX_P53701.
Orphaneti 2556. Microphthalmia with linear skin defects syndrome.
PharmGKBi PA29214.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236101.
GeneTreei ENSGT00390000004175.
HOGENOMi HOG000170352.
HOVERGENi HBG001566.
InParanoidi P53701.
KOi K01764.
OMAi NNELEHP.
OrthoDBi EOG7BGHM9.
PhylomeDBi P53701.
TreeFami TF105185.

Enzyme and pathway databases

BRENDAi 4.4.1.17. 2681.

Miscellaneous databases

ChiTaRSi HCCS. human.
GeneWikii HCCS_(gene).
GenomeRNAii 3052.
NextBioi 12081.
PROi P53701.
SOURCEi Search...

Gene expression databases

Bgeei P53701.
CleanExi HS_HCCS.
Genevestigatori P53701.

Family and domain databases

InterProi IPR000511. Cyt_C/C1_haem_lyase.
[Graphical view ]
PANTHERi PTHR12743. PTHR12743. 1 hit.
Pfami PF01265. Cyto_heme_lyase. 1 hit.
[Graphical view ]
PROSITEi PS00821. CYTO_HEME_LYASE_1. 1 hit.
PS00822. CYTO_HEME_LYASE_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)."
    Schaefer L., Ballabio A., Zoghbi H.Y.
    Genomics 34:166-172(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome."
    van den Veyver I.B., Subramanian S., Zoghbi H.Y.
    Am. J. Med. Genet. 78:179-181(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Ovary.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome."
    Wimplinger I., Morleo M., Rosenberger G., Iaconis D., Orth U., Meinecke P., Lerer I., Ballabio A., Gal A., Franco B., Kutsche K.
    Am. J. Hum. Genet. 79:878-889(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCOPS7 CYS-217.

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 26, 2014
This is version 132 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

External Data

Dasty 3