P53701 (CCHL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	268 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]; also known as microphthalmia with linear skin defects (MLS) or MIDAS syndrome. Microphthalmia is a clinically heterogeneous 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. MCOPS7 is a disorder 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. Ref.7
Sequence similarities	Belongs to the cytochrome c-type heme lyase family. Contains 2 HRM (heme regulatory motif) repeats.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Disease mutation Microphthalmia
Domain	Repeat
Ligand	Heme Iron Metal-binding
Molecular function	Lyase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	organ morphogenesis Traceable author statement. Source: ProtInc oxidation-reduction process Traceable author statement. Source: ProtInc
Cellular component	mitochondrial inner membrane Traceable author statement. Source: ProtInc
Molecular function	holocytochrome-c synthase activity Traceable author statement. Source: ProtInc metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 268	268	Cytochrome c-type heme lyase		PRO_0000121712
Regions
	Repeat	24 – 29	6	HRM 1
	Repeat	34 – 39	6	HRM 2
Natural variations
	Natural variant	217	1	R → C in MCOPS7. Ref.7		VAR_030823

Sequences

	Sequence		Length	Mass (Da)
	P53701 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 8DC4DA47E444B2FB	FASTA	268	30,602
	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

References

	« Hide 'large scale' referencesShow '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: 8661044] [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: 9674913] [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: 14702039] [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. , 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: 15489334] [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: 21269460] [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: 17033964] [Abstract] Cited for: VARIANT MCOPS7 CYS-217.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00023406.
PIR	G02133.
RefSeq	NP_001116080.1. NM_001122608.2. NP_001165462.1. NM_001171991.2. NP_005324.3. NM_005333.4.
UniGene	Hs.211571.
3D structure databases
ProteinModelPortal	P53701.
ModBase	Search...
Protein-protein interaction databases
STRING	P53701.
Polymorphism databases
DMDM	1705694.
Proteomic databases
PeptideAtlas	P53701.
PRIDE	P53701.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321143; ENSP00000326579; ENSG00000004961. ENST00000380762; ENSP00000370139; ENSG00000004961. ENST00000380763; ENSP00000370140; ENSG00000004961.
GeneID	3052.
KEGG	hsa:3052.
NMPDR	fig|9606.3.peg.32428.
UCSC	uc004cuj.2. human.
Organism-specific databases
CTD	3052.
GeneCards	GC0XP011039.
H-InvDB	HIX0016650.
HGNC	HGNC:4837. HCCS.
HPA	HPA002946.
MIM	300056. gene. 309801. phenotype.
neXtProt	NX_P53701.
Orphanet	2556. MIDAS syndrome.
PharmGKB	PA29214.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07902.
HOGENOM	HBG627179.
HOVERGEN	HBG001566.
InParanoid	P53701.
OMA	ALHAKEC.
OrthoDB	EOG4RJG2H.
PhylomeDB	P53701.
Enzyme and pathway databases
BRENDA	4.4.1.17. 2681.
Gene expression databases
ArrayExpress	P53701.
Bgee	P53701.
CleanEx	HS_HCCS.
Genevestigator	P53701.
GermOnline	ENSG00000004961. Homo sapiens.
Family and domain databases
InterPro	IPR000511. Cyt_C/C1_haem_lyase. [Graphical view]
KO	K01764.
PANTHER	PTHR12743. Cyto_heme_lyase. 1 hit.
Pfam	PF01265. Cyto_heme_lyase. 1 hit. [Graphical view]
PROSITE	PS00821. CYTO_HEME_LYASE_1. 1 hit. PS00822. CYTO_HEME_LYASE_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	12081.
SOURCE	Search...

Entry information

Entry name

CCHL_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 104 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.