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P53701 (CCHL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome c-type heme lyase

Short name=CCHL
EC=4.4.1.17
Alternative name(s):
Holocytochrome c-type synthase
Gene names
Name:HCCS
Synonyms:CCHL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length268 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Links covalently the heme group to the apoprotein of cytochrome c By similarity.

Catalytic activity

Holocytochrome c = apocytochrome c + heme.

Subcellular location

Mitochondrion inner membrane Potential.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the cytochrome c-type heme lyase family.

Contains 2 HRM (heme regulatory motif) repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 268268Cytochrome c-type heme lyase
PRO_0000121712

Regions

Repeat24 – 296HRM 1
Repeat34 – 396HRM 2

Natural variations

Natural variant2171R → C in MCOPS7. Ref.7
VAR_030823

Sequences

Sequence LengthMass (Da)Tools
P53701 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 8DC4DA47E444B2FB

FASTA26830,602
        10         20         30         40         50         60 
MGLSPSAPAV AVQASNASAS PPSGCPMHEG KMKGCPVNTE PSGPTCEKKT YSVPAHQERA 

        70         80         90        100        110        120 
YEYVECPIRG TAAENKENLD PSNLMPPPNQ TPAPDQPFAL STVREESSIP RADSEKKWVY 

       130        140        150        160        170        180 
PSEQMFWNAM LKKGWKWKDE DISQKDMYNI IRIHNQNNEQ AWKEILKWEA LHAAECPCGP 

       190        200        210        220        230        240 
SLIRFGGKAK EYSPRARIRS WMGYELPFDR HDWIINRCGT EVRYVIDYYD GGEVNKDYQF 

       250        260 
TILDVRPALD SLSAVWDRMK VAWWRWTS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U36787 mRNA. Translation: AAB19007.1.
AF053015 expand/collapse EMBL AC list , 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.
PIRG02133.
RefSeqNP_001116080.1. NM_001122608.2.
NP_001165462.1. NM_001171991.2.
NP_005324.3. NM_005333.4.
UniGeneHs.211571.

3D structure databases

ProteinModelPortalP53701.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109302. 2 interactions.
STRING9606.ENSP00000326579.

PTM databases

PhosphoSiteP53701.

Polymorphism databases

DMDM1705694.

Proteomic databases

PaxDbP53701.
PeptideAtlasP53701.
PRIDEP53701.

Protocols and materials databases

DNASU3052.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321143; ENSP00000326579; ENSG00000004961.
ENST00000380762; ENSP00000370139; ENSG00000004961.
ENST00000380763; ENSP00000370140; ENSG00000004961.
GeneID3052.
KEGGhsa:3052.
UCSCuc004cuj.3. human.

Organism-specific databases

CTD3052.
GeneCardsGC0XP011039.
HGNCHGNC:4837. HCCS.
HPAHPA002946.
MIM300056. gene.
309801. phenotype.
neXtProtNX_P53701.
Orphanet2556. Microphthalmia with linear skin defects syndrome.
PharmGKBPA29214.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236101.
HOGENOMHOG000170352.
HOVERGENHBG001566.
InParanoidP53701.
KOK01764.
OMANNELEHP.
OrthoDBEOG7BGHM9.
PhylomeDBP53701.
TreeFamTF105185.

Enzyme and pathway databases

BRENDA4.4.1.17. 2681.

Gene expression databases

BgeeP53701.
CleanExHS_HCCS.
GenevestigatorP53701.

Family and domain databases

InterProIPR000511. Cyt_C/C1_haem_lyase.
[Graphical view]
PANTHERPTHR12743. PTHR12743. 1 hit.
PfamPF01265. Cyto_heme_lyase. 1 hit.
[Graphical view]
PROSITEPS00821. CYTO_HEME_LYASE_1. 1 hit.
PS00822. CYTO_HEME_LYASE_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHCCS_(gene).
GenomeRNAi3052.
NextBio12081.
PROP53701.
SOURCESearch...

Entry information

Entry nameCCHL_HUMAN
AccessionPrimary (citable) accession number: P53701
Secondary accession number(s): B3KUS1, Q502X8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: April 16, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM