Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HCCS Gene

protein-coding   GIFtS: 61
GCID: GC0XP011039

holocytochrome c synthase

(Previous name: holocytochrome c synthase (cytochrome c heme-lyase) )
 Explore 17 diseases affiliated with
HCCS via our new
 Human Malady Compendium 
Biological research products
for HCCS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Holocytochrome C Synthase1 2     MCOPS72 5
CCHL1 2 3     Holocytochrome C Synthase (Cytochrome C Heme-Lyase)1
Holocytochrome C-Type Synthase2 3     Cytochrome C Heme-Lyase2
EC 4.4.1.173 8     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 GC0XP008910


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HCCS:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HCCS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC0XP011039:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701 (See protein sequence)
Recommended Name: Cytochrome c-type heme lyase  
Size: 268 amino acids; 30602 Da
Subcellular location: Mitochondrion inner membrane (Potential)
Secondary accessions: B3KUS1 Q502X8

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P53701

  • 4 DME Specific Peptides for HCCS (P53701)
     PFDRHDW  QMFWNAML  ECPCGPSL  IHNQNNEQAWKEILKWEALHA 

    HCCS Protein expression data from MOPED and PaxDb:    About this image 
    HCCS Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001116080.1  NP_001165462.1  NP_005324.3  

    ENSEMBL proteins: 
     ENSP00000326579   ENSP00000370140   ENSP00000370139  

    Human Recombinant Protein Products for HCCS: 
    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: HCCS
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn Proteins for HCCS

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    HCCS for ontologies           About GeneDecksing



    HCCS Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HCCS
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HCCS 
    GenScript Custom Superior Antibodies Services for HCCS
    Novus Biologicals HCCS Antibodies
    Abcam antibodies for HCCS 
    Uscn Antibodies for HCCS
    ThermoFisher Antibody for HCCS

    Assay Products for HCCS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HCCS
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HCCS


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HCCS for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000511 Cyt_C/C1_haem_lyase

    Graphical View of Domain Structure for InterPro Entry P53701

    ProtoNet protein and cluster: P53701

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004408holocytochrome-c synthase activity IEA--
    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  homeostasis/metabolism 
     mortality/aging  muscle  normal 

    HCCS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HCCS 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): HCCS
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HCCS
    8/12 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HCCS (see all 4)
    OriGene shRNA RFP: HCCS
    OriGene siRNA: HCCS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HCCS
    Sirion Biotech Custom design and validation of potent shRNA sequences against HCCS 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HCCS
    Sirion Biotech Customized adenovirus for overexpression of HCCS 
    Sirion Biotech Customized adenovirus for potent knockdown of HCCS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS (see all 3)
    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
    Search LifeMap BioReagents cell lines for HCCS
    Sirion Biotech Customized stable knockdown cell line services for HCCS 
    Sirion Biotech Customized inducible knockdown cell line services for HCCS
    Sirion Biotech Customized stable overexpressing cell line services for HCCS
    Sirion Biotech Customized inducible overexpressing cell line services for HCCS

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCCS


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    HCCS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HCCS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/42 Interacting proteins for HCCS (P537013 ENSP000003265794) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HCCS

    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--
    Search CenterWatch for drugs/clinical trials and news about HCCS / CCHL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    OriGene 3'-UTR Clone (see all 2): HCCS
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HCCS
    8/12 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HCCS (see all 4)
    OriGene shRNA RFP: HCCS
    OriGene siRNA: HCCS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HCCS
    Sirion Biotech Custom design and validation of potent shRNA sequences against HCCS 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for HCCS
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HCCS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HCCS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCCS

    Additional cDNA 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 

    24/142 AceView cDNA sequences (see all 142):

    BP372370 AA310250 AI801013 AI767240 BQ014124 CK904880 BM459978 CD369170 
    BQ013047 BM980388 AL561481 AW444785 AI674435 BE504530 AK097815 CB306404 
    CB160415 CR594352 CR615500 BQ000137 BC001691 AI222717 C02260 BM055275 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HCCS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGCAGAGTG
    HCCS Expression
    About this image
    See HCCS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HCCS

    SOURCE GeneReport for Unigene cluster: Hs.211571
        SABiosciences Custom PCR Arrays for HCCS

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HCCS
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HCCS
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HCCS
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HCCS gene from 8/33 species (see all 33)    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
    --
    78(a)
    1 ↔ 1
    4(89515906-89533461)
    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
    Cyt2p1
    51.39(n)1
    43.45(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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/176 NCBI SNPs in HCCS are shown (see all 176    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178881,2
    Cpathogenic8919843(+) GGGCAC/TGAATT 6 R * stg10--------
    rs1219178891,2
    Cpathogenic8920521(+) TAAACC/TGTTGC 6 R C mis10--------
    rs37616351,2
    C,F,H--8909161(-) CTCCCG/ACAATT 3 -- us2k15Minor allele frequency- A:0.00NS EA 588
    rs1833663481,2
    C--8910079(+) GGGACA/GGAACC 3 -- us2k10--------
    rs1465718511,2
    C--8911559(+) TTGAGA/GTAGTA 3 -- int10--------
    rs1847150921,2
    C--8911879(+) TAGCCA/GTTTCA 3 -- int10--------
    rs1389847331,2
    C--8911890(+) GTATTC/TTCGTA 3 -- int10--------
    rs1472172811,2
    C--8912127(+) TGAGAA/GGTCAC 3 -- int10--------
    rs1148615731,2
    C--8913264(+) CAACTA/GTGTCC 3 -- int10--------
    rs1440192321,2
    C--8913396(+) TCAAAC/TCATGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for HCCS (11129406 - 11141206 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HCCS: --
    Human Gene Mutation Database (HGMD): HCCS

    Locus Specific Mutation Databases (LSDB): HCCS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HCCS for disorders           About GeneDecksing

    OMIM gene information: 300056   
    OMIM disorders: 309801  
    UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
  • 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

    17 diseases for HCCS:    About MalaCards
    microphthalmia    microphthalmia with linear skin defects    focal dermal hypoplasia    microphthalmia syndromic 7
    congenital diaphragmatic hernia    corpus callosum    ocular albinism    x inactivation
    pyelonephritis    barth syndrome    chronic pyelonephritis    albinism
    chorioretinitis    hernia    rett syndrome    anophthalmia
    malaria

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

    1 Novoseek 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
    Microphthalmia with Linear Skin Defects Syndrome


    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)
    About This Section

    PubMed articles for HCCS gene, integrated from 9 sources (see all 32):
    (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. (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. (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. (1998)
    4. 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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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. (2002)
    7. 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. (2007)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1 Need A.C....Goldstein D.B. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3052 HGNC: 4837 AceView: HCCS Ensembl:ENSG00000004961 euGenes: HUgn3052
    ECgene: HCCS Kegg: 3052 H-InvDB: HCCS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HCCS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HCCS

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of HCCS
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for HCCS  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HCCS   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HCCS  
     OriGene Protein Over-expression Lysate for HCCS   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for HCCS   OriGene 3'-UTR Clone for HCCS  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HCCS  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for HCCS   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HCCS   OriGene Custom Protein Services for HCCS  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HCCS
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HCCS
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCCS
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HCCS
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCCS
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HCCS
     GenScript Custom Purified and Recombinant Proteins Services for HCCS GenScript cDNA clones with any tag delivered in your preferred vector for HCCS
     GenScript Custom Assay Services for HCCS GenScript Custom Superior Antibodies Services for HCCS
     GenScript Custom overexpressing Cell Line Services for HCCS CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HCCS promoter
     Search Chromatin IP Primers for HCCS
     RT2 qPCR Primer Assay in human, mouse, rat HCCS
     GNC Network for HCCS
     SABiosciences Custom PCR Arrays for HCCS
     Search Tocris compounds for HCCS
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HCCS antibodies
     HCCS proteins
     HCCS lysates
     Antibodies for HCCS
     See all of Abcam's Antibodies, Kits and Proteins for HCCS
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     HCCS Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for HCCS
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCCS
     SwitchGear 3'UTR luciferase reporter plasmids for HCCS
     SwitchGear Promoter luciferase reporter plasmids for HCCS
     ThermoFisher Antibody for HCCS
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCCS
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HCCS
    Sirion Biotech Customized:
     stable knockdown cell line services for HCCS
     inducible knockdown cell line services for HCCS
     design and validation of potent shRNA sequences against HCCS
     adenovirus for potent knockdown of HCCS
     adenovirus for overexpression of HCCS
     stable overexpressing cell line services for HCCS
     inducible overexpressing cell line services for HCCS
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HCCS gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4