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Aliases & Descriptions for HCCS
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CCHL 1 , 2 , 3 DKFZp779I1858 2 EC 4.4.1.17 3 MCOPS7 2 , 5 OTTHUMP00000022903 2 OTTHUMP00000022904 2 OTTHUMP00000022905 2
Descriptions Holocytochrome c-type synthase 3 holocytochrome c synthase 2 holocytochrome c synthase (cytochrome c heme-lyase) 2
Search outside databases for aliases for HCCS genePrevious GC identifers: GC0XP010108 GC0XP009895 GC0XP010425 GC0XP010490 GC0XP010889
Summaries for HCCS (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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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
Genomic Location for HCCS
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the HCCS gene 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) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP011039:
(about GC identifiers )
Start:
11,039,342 bp from pter
End:
11,051,122 bp from pter
Size:
11,781 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000023.9 NT_011757.15 Proteins for HCCS
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
Subcellular location : Mitochondrion inner membrane (Potential)
Secondary accessions : Q502X8
REFSEQ proteins (2 alternative transcripts):
NP_001116080.1 NP_005324.3 ENSEMBL proteins: ENSP00000326579 ENSP00000370139 ENSP00000370140 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for HCCS: Assays for HCCS:
Protein
Domains/ Families for HCCS(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 familySimilarity : Contains 2 HRM (heme regulatory motif) repeats
Gene Function for HCCS
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
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siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005333 Applied Biosystems Silencer ® siRNAs for HCCS Sigma-Aldrich siRNA for HCCS Sigma-Aldrich shRNA for HCCS Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001122608 UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701 Function : Links covalently the heme group to the apoprotein of cytochrome c (By similarity)Catalytic activity : Holocytochrome c = apocytochrome c + hemeEnzyme Number (IUBMB): EC 4.4.1.17
Genatlas biochemistry entry for HCCS :holocytochrome C-type synthetase,putatively involved in electron transport pathway
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Hccs) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for HCCS
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for HCCS 5/9 Interacting proteins for HCCS (ENSP00000370139 3 ) via UniProtKB, MINT, and/or STRING (see all 9
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for HCCS (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for HCCS
Transcripts for HCCS(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
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Sigma-Aldrich ,
shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005333 Sigma-Aldrich siRNA for HCCS Sigma-Aldrich shRNA for HCCS Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001122608 NM_005333
REFSEQ mRNAs for HCCS gene (2 alternative transcripts): NM_001122608.1 NM_005333.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001122608 NM_005333
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001122608  
Additional cDNA sequence: AF143324.1 AK097815.1 BC001691.2 BC095455.1 CR594352.1 CR615500.1 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
):AI674435 BC001691 AL561481 AW444785 AI767240 BM980388 BQ000137 CD369170 CK904880 BQ014124 BE463562 BM841276 AI222717 CB306404 BX364583 AI801013 AA600019 CR594352 CB160415 AK097815 BP372370 C02260 BE504530 AA310250
highest scoring ESTs for HCCS :AI801013 U36787 AA045318 AA122101 AA281549 AA310250 AA492536 AA514564 AA515086 AA595081
Unigene Cluster for HCCS: Holocytochrome c synthase (cytochrome c heme-lyase) Hs.211571 [show with all ESTs ] Unigene Representative Sequence: NM_005333 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for HCCS ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c SP1 :     -   -   -             -           SP2 :       -   -             -           SP3 :         -             -           SP4 :         -                       SP5 :                              
About this scheme ECgene alternative splicing isoforms for HCCS 3 Ensembl transcripts including schematic representations : ENST00000321143
ENST00000380762
ENST00000380763
Expression for HCCS
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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HCCS expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HCCS 1 / 2 / 3
6 probe-sets matching HCCS gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CTGCAGAGTGSOURCE GeneReport for Unigene cluster: Hs.211571 Expression variation in blood from EXPOLDB for HCCS
Orthologs for HCCS
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for HCCS gene from 5/19 species (see all 19
)
About this table Species with no ortholog for HCCS ENSEMBL Gene Tree for HCCS Paralogs for HCCS (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for HCCS (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for HCCS (up to first 250kb)
Disorders & Mutations for HCCS
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 300056 disorders : 309801 UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]; alsoknown as microphthalmia with linear skin defects (MLS) or MIDAS syndrome. Microphthalmia is aclinically heterogeneous disorder of eye formation, ranging from small size of a single eye TOcomplete bilateral absence of ocular tissues (anophthalmia). In many cases,microphthalmia/anophthalmia occurs in association with syndromes that include non-ocularabnormalities. MCOPS7 is a disorder characterized by unilateral or bilateral microphthalmia,linear skin defects in affected females, and in utero lethality for males. Skin defects arelimited to the face and neck, consisting of areas of aplastic skin that heal with age to formhyperpigmented areas. Additional features in female patients include agenesis of the corpuscallosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect,mental retardation, and diaphragmatic hernia
1 Novoseek disease relationship for HCCS gene
About this table 1 PharmGKB disease relationship for HCCS gene About this table Human Gene Mutation Database : HCCS
Medical News for HCCS (Possibly Related Articles in
Doctor's Guide )
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Publications for HCCS (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/24 PubMed articles for HCCS gene (see all 24
): Mutations of the mitochondrial holocytochrome c-type synthase in X- linked dominant microphthalmia with linear skin defects syndrome. (PubMed id 17033964) 1, 3, 4 Wimplinger I.... Kutsche K. (2006) 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, 3, 4 Schaefer L.... Zoghbi H.Y. (1996) 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, 3, 4 van den Veyver I.B.... Zoghbi H.Y. (1998) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. (PubMed id 11827457) 1, 3 Schwarz Q.P. and Cox T.C. (2002) 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, 3 Wimplinger I....Kutsche K. (2007) MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. (PubMed id 16263763) 3 Nakashima-Kamimura N....Ohta S. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3 Ota T....Sugano S. (2004) Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. (PubMed id 12730115) 7 Ross M.E....Downing J.R. (2003) Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. (PubMed id 12444108) 3 Prakash S.K....Van Den Veyver I.B. (2002)
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Genome Databases showing HCCS
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing HCCS
(According to HUGE )
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Specialized Databases showing HCCS (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=HCCS
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-- Services for HCCS (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for HCCS:
Recombinant Proteins (HCCS ) Antibodies (HCCS )
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