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P53701

- CCHL_HUMAN

UniProt

P53701 - CCHL_HUMAN

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
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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

    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

    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. 2 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.
    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

    MGLSPSAPAV AVQASNASAS PPSGCPMHEG KMKGCPVNTE PSGPTCEKKT    50
    YSVPAHQERA YEYVECPIRG TAAENKENLD PSNLMPPPNQ TPAPDQPFAL 100
    STVREESSIP RADSEKKWVY PSEQMFWNAM LKKGWKWKDE DISQKDMYNI 150
    IRIHNQNNEQ AWKEILKWEA LHAAECPCGP SLIRFGGKAK EYSPRARIRS 200
    WMGYELPFDR HDWIINRCGT EVRYVIDYYD GGEVNKDYQF TILDVRPALD 250
    SLSAVWDRMK VAWWRWTS 268
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 2 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 GC0XP011039.
    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.
    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

    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

    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: October 1, 2014
    This is version 130 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