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HCCS Gene

protein-coding   GIFtS: 64
GCID: GC0XP011129

Holocytochrome C Synthase

(Previous names: holocytochrome c synthase (cytochrome c heme-lyase), microphthalamia...)
(Previous symbol: MLS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Holocytochrome C Synthase1 2     CCHL2 3
MLS1 2     EC 4.4.1.173 8
Microphthalamia With Linear Skin Defects1 2     MCOPS72 5
Cytochrome C Heme-Lyase1 2     Holocytochrome C Synthase (Cytochrome C Heme-Lyase)1
Holocytochrome C-Type Synthase2 3     Cytochrome C-Type Heme Lyase2

External Ids:    HGNC: 48371   Entrez Gene: 30522   Ensembl: ENSG000000049617   OMIM: 3000565   UniProtKB: P537013   

Export aliases for HCCS gene to outside databases

Previous GC identifers: GC0XP010108 GC0XP009895 GC0XP010425 GC0XP010490 GC0XP010889 GC0XP011039 GC0XP008910


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HCCS Gene:
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome
c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants
encoding the same protein have been found for this gene. (provided by RefSeq, Jan 2010)

GeneCards Summary for HCCS Gene:
HCCS (holocytochrome c synthase) is a protein-coding gene. Diseases associated with HCCS include microphthalmia syndromic 7, and microphthalmia with linear skin defects syndrome. GO annotations related to this gene include holocytochrome-c synthase activity.

UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
Function: Links covalently the heme group to the apoprotein of cytochrome c (By similarity)

Gene Wiki entry for HCCS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HCCS gene promoter:
         FOXD3   HNF-3beta   MEF-2A   AREB6   PPAR-gamma1   GATA-6   POU2F1   POU2F1a   aMEF-2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCCS promoter sequence
   Search Chromatin IP Primers for HCCS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HCCS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

HCCS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCCS gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP011129:  view genomic region     (about GC identifiers)

Start:
11,129,406 bp from pter      End:
11,141,206 bp from pter
Size:
11,801 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701 (See protein sequence)
Recommended Name: Cytochrome c-type heme lyase  
Size: 268 amino acids; 30602 Da
Secondary accessions: B3KUS1 Q502X8

Explore the universe of human proteins at neXtProt for HCCS: NX_P53701

Explore proteomics data for HCCS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for HCCS (P53701)
     PFDRHDW  QMFWNAML  ECPCGPSL  IHNQNNEQAWKEILKWEALHA 


    See HCCS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116080.1  NP_001165462.1  NP_005324.3  

    ENSEMBL proteins: 
     ENSP00000326579   ENSP00000370140   ENSP00000370139  

    HCCS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HCCS
    OriGene Protein Over-expression Lysate for HCCS
    OriGene MassSpec for HCCS
    OriGene Custom Protein Services for HCCS
    GenScript Custom Purified and Recombinant Proteins Services for HCCS
    Novus Biologicals HCCS Proteins
    Novus Biologicals HCCS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HCCS

    HCCS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HCCS
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HCCS
    OriGene Custom Antibody Services for HCCS
    Novus Biologicals HCCS Antibodies
    Abcam antibodies for HCCS
    Cloud-Clone Corp. Antibodies for HCCS
    ThermoFisher Antibody for HCCS
    LSBio Antibodies in human, mouse, rat for HCCS

    HCCS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HCCS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HCCS
    Cloud-Clone Corp. CLIAs for HCCS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000511 Cyt_C/C1_haem_lyase

    Graphical View of Domain Structure for InterPro Entry P53701

    ProtoNet protein and cluster: P53701

    1 Blocks protein domain: IPB000511 Cytochrome c and c1 heme-lyase

    UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
    Similarity: Belongs to the cytochrome c-type heme lyase family
    Similarity: Contains 2 HRM (heme regulatory motif) repeats


    HCCS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCHL_HUMAN, P53701
    Function: Links covalently the heme group to the apoprotein of cytochrome c (By similarity)
    Catalytic activity: Holocytochrome c = apocytochrome c + heme

         Genatlas biochemistry entry for HCCS:
    holocytochrome C-type synthetase,putatively involved in electron transport pathway

         Enzyme Number (IUBMB): EC 4.4.1.171 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004408holocytochrome-c synthase activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    HCCS for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hccs):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  normal 

    HCCS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HCCS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HCCS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HCCS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HCCS

    miRNA
    Products:
        
    miRTarBase miRNAs that target HCCS:
    hsa-mir-148a-3p (MIRT025988), hsa-mir-122-5p (MIRT023250), hsa-mir-130b-3p (MIRT020136), hsa-mir-93-5p (MIRT027992)

    Block miRNA regulation of human, mouse, rat HCCS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HCCS (see all 12):
    hsa-miR-203 hsa-miR-4271 hsa-miR-3611 hsa-miR-429 hsa-miR-509-5p hsa-miR-2110 hsa-miR-1257 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidHCCS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HCCS
    Predesigned siRNA for gene silencing in human, mouse, rat HCCS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HCCS

    Clone
    Products:
         
    OriGene clones in human, mouse for HCCS (see all 16)
    OriGene ORF clones in mouse, rat for HCCS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HCCS (NM_005333)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HCCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCCS

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HCCS
    Browse ESI BIO Cell Lines and PureStem Progenitors for HCCS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCCS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCHL_HUMAN, P53701: Mitochondrion inner membrane (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    extracellular2
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA11827457
    GO:0005743mitochondrial inner membrane IEA--

    HCCS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HCCS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for HCCS):
        Porphyrin and chlorophyll metabolism


    HCCS for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HCCS
    Interactions:

        GeneGlobe Interaction Network for HCCS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HCCS (P537013 ENSP000003265794) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009887organ morphogenesis TAS8661044
    GO:0055114oxidation-reduction process TAS8661044

    HCCS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HCCS (CCHL)

    2 HMDB Compounds for HCCS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cytochrome C 9007-43-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HCCS gene (3 alternative transcripts): 
    NM_001122608.2  NM_001171991.2  NM_005333.4  

    Unigene Cluster for HCCS:

    Holocytochrome c synthase
    Hs.211571  [show with all ESTs]
    Unigene Representative Sequence: NM_005333
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321143(uc004cul.2 uc004cuk.3 uc004cuj.3) ENST00000380763
    ENST00000380762
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HCCS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HCCS (see all 12):
    hsa-miR-203 hsa-miR-4271 hsa-miR-3611 hsa-miR-429 hsa-miR-509-5p hsa-miR-2110 hsa-miR-1257 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidHCCS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HCCS
    Predesigned siRNA for gene silencing in human, mouse, rat HCCS
    Clone
    Products:
         
    OriGene clones in human, mouse for HCCS (see all 16)
    OriGene ORF clones in mouse, rat for HCCS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HCCS (NM_005333)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HCCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCCS
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HCCS
    OriGene qSTAR qPCR primer pairs in human, mouse for HCCS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HCCS
      QuantiTect SYBR Green Assays in human, mouse, rat HCCS
      QuantiFast Probe-based Assays in human, mouse, rat HCCS

    Additional mRNA sequence: 

    AF143324.1 AK097815.1 BC001691.2 BC095455.1 CR749578.1 U36787.1 

    7 DOTS entries:

    DT.100822164  DT.95162995  DT.100822162  DT.441375  DT.121283626  DT.100822160  DT.100822169 

    Selected AceView cDNA sequences (see all 142):

    BM055275 CR594352 BE792471 C02260 CR615500 BX364583 AA600019 CK904880 
    BC001691 BQ000137 BE504530 AA310250 BP372370 AI222717 AI801013 BQ014124 
    AI767240 AW444785 BM459978 BM980388 AK097815 AL561481 CF264807 BE463562 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HCCS    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
    SP1:              -     -     -                                   -                           
    SP2:                    -     -                                   -                           
    SP3:                          -                                   -                           
    SP4:                          -                                                               
    SP5:                                                                                          


    ECgene alternative splicing isoforms for HCCS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HCCS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAGAGTG
    HCCS Expression
    About this image

    HCCS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HCCS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.211571
        Custom PCR Arrays for HCCS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HCCS
    OriGene qSTAR qPCR primer pairs in human, mouse for HCCS
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    QuantiTect SYBR Green Assays in human, mouse, rat HCCS
    QuantiFast Probe-based Assays in human, mouse, rat HCCS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCCS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HCCS gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hccs1 , 5 holocytochrome c synthetase1, 5 85.2(n)1
    85.45(a)1
      X (78.98 cM)5
    151591  NM_008222.41  NP_032248.31 
     1692501935 
    chicken
    (Gallus gallus)
    Aves HCCS1 holocytochrome c synthase 75.41(n)
    77.15(a)
      424482  NM_001031275.1  NP_001026446.1 
    lizard
    (Anolis carolinensis)
    Reptilia HCCS6
    holocytochrome c synthase
    68(a)
    1 ↔ 1
    4(89515861-89539502)
    African clawed frog
    (Xenopus laevis)
    Amphibia hccs-prov2 holocytochrome c synthase (cytochrome c heme-lyase) 81.78(n)    BC045005.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.44232 Danio rerio mRNA similar to holocytochrome c synthetase more 77.84(n)    BC044486.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60223 holocytochrome c synthase 53(a)   93F13   --
    worm
    (Caenorhabditis elegans)
    Secernentea T06D8.63 cyctochrome c1 heme lyase 58(a)   II(11235241-11236278)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYC3(YAL039C)4
    CYT21
    Cytochrome c heme lyase (holocytochrome c synthase), more4
    CYT21
    51.39(n)1
    42.86(a)1
      1(69525-68716)4
    8537751  NP_012836.11  8511924 
     NP_009361.14 


    ENSEMBL Gene Tree for HCCS (if available)
    TreeFam Gene Tree for HCCS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HCCS gene
    1 SIMAP similar gene for HCCS using alignment to 1 protein entry:     CCHL_HUMAN:
    DKFZp779I1858

    HCCS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HCCS (see all 207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0308234
    Microphthalmia, syndromic, 7 (MCOPS7)4--see VAR_0308232 R C mis40--------
    rs1219178881,2
    Cpathogenic111053419(+) GGGCAC/TGAATT 6 R * stg10--------
    rs1219178891,2
    Cpathogenic111054097(+) TAAACC/TGTTGC 6 R C mis10--------
    rs117977971,2
    H--8922360(+) gggggG/Tggggg 3 -- ds50010--------
    rs1869799441,2
    --11041756(+) GTGAAC/GGAGAA 3 -- us2k10--------
    rs1917572741,2
    --11041870(+) GTGGAC/GAATTC 3 -- us2k10--------
    rs726128441,2
    C--11041999(+) GAGAGA/GAAACC 3 -- us2k10--------
    rs1468922431,2
    C--11042081(+) AGACAA/GGAAAT 3 -- us2k10--------
    rs1842153721,2
    --11042336(+) TGTGAC/TAGACA 3 -- us2k10--------
    rs1995992081,2
    --11042368(+) AAGAC-/AGAGAAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for HCCS (11129406 - 11141206 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HCCS: --
    Human Gene Mutation Database (HGMD): HCCS
    Locus Specific Mutation Databases (LSDB): HCCS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HCCS
    DNA2.0 Custom Variant and Variant Library Synthesis for HCCS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300056   
    OMIM disorders: 309801  
    UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
  • 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

  • 17 diseases for HCCS:    About MalaCards
    microphthalmia syndromic 7    microphthalmia with linear skin defects syndrome    congenital diaphragmatic hernia    aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies
    focal dermal hypoplasia    barth syndrome    microphthalmia    chronic pyelonephritis
    ocular albinism    chorioretinitis    pyelonephritis    congenital heart defect
    rett syndrome    albinism    mental retardation    multiple myeloma
    myeloma

    1 disease from the University of Copenhagen DISEASES database for HCCS:
    Microphthalmia

    HCCS for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HCCS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 87.7 4 17893649 (1), 9674913 (1), 15576047 (1), 8661044 (1)

    GeneTests: HCCS
    GeneReviews: HCCS
    Genetic Association Database (GAD): HCCS

    Export disorders for HCCS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HCCS gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with HCCS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of the mitochondrial holocytochrome c-type synthase in X- linked dominant microphthalmia with linear skin defects syndrome. (PubMed id 17033964)1, 2, 9 Wimplinger I.... Kutsche K. (Am. J. Hum. Genet. 2006)
    2. 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). (PubMed id 8661044)1, 2, 9 Schaefer L.... Zoghbi H.Y. (Genomics 1996)
    3. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. (PubMed id 9674913)1, 2, 9 van den Veyver I.B.... Zoghbi H.Y. (Am. J. Med. Genet. 1998)
    4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. (PubMed id 12444108)1, 3 Prakash S.K....Van Den Veyver I.B. (Hum. Mol. Genet. 2002)
    8. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (PubMed id 8364577)1, 3 Wapenaar M.C....Zoghbi H.Y. (Hum. Mol. Genet. 1993)
    9. Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. (PubMed id 11827457)1, 9 Schwarz Q.P. and Cox T.C. (Genomics 2002)
    10. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? (PubMed id 17893649)1, 9 Wimplinger I....Kutsche K. (Mol. Vis. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3052 HGNC: 4837 AceView: HCCS Ensembl:ENSG00000004961 euGenes: HUgn3052
    ECgene: HCCS Kegg: 3052 H-InvDB: HCCS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HCCS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HCCS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HCCS gene:
    Search GeneIP for patents involving HCCS

    GeneCards and IP:
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