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Aliases for CYCS Gene

Aliases for CYCS Gene

  • Cytochrome C, Somatic 2 3 5
  • CYC 3 4
  • Cytochrome C 3
  • THC4 3
  • HCS 3

External Ids for CYCS Gene

Previous GeneCards Identifiers for CYCS Gene

  • GC07M024801
  • GC07M024900
  • GC07M024931
  • GC07M025124

Summaries for CYCS Gene

Entrez Gene Summary for CYCS Gene

  • This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]

GeneCards Summary for CYCS Gene

CYCS (Cytochrome C, Somatic) is a Protein Coding gene. Diseases associated with CYCS include Thrombocytopenia 4 and Autosomal Thrombocytopenia With Normal Platelets. Among its related pathways are AGE/RAGE pathway and TNFR1 Pathway. GO annotations related to this gene include iron ion binding and electron carrier activity.

UniProtKB/Swiss-Prot for CYCS Gene

  • Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain.

  • Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases.

Gene Wiki entry for CYCS Gene

Additional gene information for CYCS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYCS Gene

Genomics for CYCS Gene

Regulatory Elements for CYCS Gene

Enhancers for CYCS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H025123 1.1 ENCODE 9.5 -0.4 -448 4 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 GSDME CYCS OSBPL3 PIR56122
GH07H025093 1.2 Ensembl ENCODE 7.6 +31.3 31346 1 HDAC1 HDGF PKNOX1 FOXA2 RB1 ARNT ARID4B ZNF2 ZBTB40 RAD21 CYCS GC07P025051
GH07H025116 1.1 Ensembl ENCODE 5.3 +7.7 7741 2 HDGF PKNOX1 BATF ZBTB40 ATF7 CREM IKZF2 PAF1 SMARCA5 JUNB CYCS GC07P025051
GH07H025149 0.5 ENCODE 10.2 -24.5 -24455 0 FOSL1 ZNF316 SOX6 CYCS OSBPL3 PIR38469 PIR55615
GH07H024910 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +214.2 214238 2 HDAC1 ATF1 TBL1XR1 FEZF1 ZKSCAN1 TCF12 CC2D1A ZNF766 GATA2 EGR1 OSBPL3 CYCS SNRPCP19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYCS on UCSC Golden Path with GeneCards custom track

Promoters for CYCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209667 261 2200 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for CYCS Gene

Chromosome:
7
Start:
25,118,651 bp from pter
End:
25,125,361 bp from pter
Size:
6,711 bases
Orientation:
Minus strand

Genomic View for CYCS Gene

Genes around CYCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYCS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYCS Gene

Proteins for CYCS Gene

  • Protein details for CYCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P99999-CYC_HUMAN
    Recommended name:
    Cytochrome c
    Protein Accession:
    P99999
    Secondary Accessions:
    • A4D166
    • B2R4I1
    • P00001
    • Q6NUR2
    • Q6NX69
    • Q96BV4

    Protein attributes for CYCS Gene

    Size:
    105 amino acids
    Molecular mass:
    11749 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYCS Gene

neXtProt entry for CYCS Gene

Post-translational modifications for CYCS Gene

  • Binds 1 heme group per subunit.
  • Phosphorylation at Tyr-49 and Tyr-98 both reduce by half the turnover in the reaction with cytochrome c oxidase, down-regulating mitochondrial respiration.
  • Ubiquitination at isoforms=40 and isoforms=80
  • Modification sites at PhosphoSitePlus

Other Protein References for CYCS Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYCS (CYCS)

Assay Products

  • Cloud-Clone Corp. Assay Kits for CYCS

No data available for DME Specific Peptides for CYCS Gene

Domains & Families for CYCS Gene

Gene Families for CYCS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CYCS Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYCS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P99999

UniProtKB/Swiss-Prot:

CYC_HUMAN :
  • Belongs to the cytochrome c family.
Family:
  • Belongs to the cytochrome c family.
genes like me logo Genes that share domains with CYCS: view

Function for CYCS Gene

Molecular function for CYCS Gene

UniProtKB/Swiss-Prot Function:
Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain.
UniProtKB/Swiss-Prot Function:
Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases.

Phenotypes From GWAS Catalog for CYCS Gene

Gene Ontology (GO) - Molecular Function for CYCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 contributes_to protein serine/threonine phosphatase activity TAS 8206937
GO:0005515 protein binding IPI 9267021
GO:0009055 electron carrier activity IEA --
GO:0020037 heme binding IEA,TAS 9515723
GO:0045155 electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity IDA 8689682
genes like me logo Genes that share ontologies with CYCS: view
genes like me logo Genes that share phenotypes with CYCS: view

Human Phenotype Ontology for CYCS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYCS Gene

MGI Knock Outs for CYCS:

Animal Model Products

CRISPR Products

miRNA for CYCS Gene

miRTarBase miRNAs that target CYCS

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CYCS
  • Applied Biological Materials Clones for CYCS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CYCS Gene

Localization for CYCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYCS Gene

Mitochondrion intermembrane space. Note=Loosely associated with the inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYCS gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000159 protein phosphatase type 2A complex TAS 8206937
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA,IEA 20671748
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space TAS,IDA 8689682
genes like me logo Genes that share ontologies with CYCS: view

Pathways & Interactions for CYCS Gene

genes like me logo Genes that share pathways with CYCS: view

Pathways by source for CYCS Gene

SIGNOR curated interactions for CYCS Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CYCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:0006470 protein dephosphorylation IEA --
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with CYCS: view

Drugs & Compounds for CYCS Gene

(69) Drugs for CYCS Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Minocycline Approved, Investigational Pharma Target, negative modulator 236
Imidazole Experimental Pharma Target 36
Heme C Experimental Pharma Target 0
N-Trimethyllysine Experimental Pharma Target 0
Protoporphyrin Ix Containing Co Experimental Pharma Target 0

(74) Additional Compounds for CYCS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CYCS Gene

Compound Action Cas Number
Cytochrome c - pigeon (88-104) Triggers T Cell response 86579-06-8
genes like me logo Genes that share compounds with CYCS: view

Drug Products

Transcripts for CYCS Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CYCS
  • Applied Biological Materials Clones for CYCS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CYCS Gene

No ASD Table

Relevant External Links for CYCS Gene

GeneLoc Exon Structure for
CYCS
ECgene alternative splicing isoforms for
CYCS

Expression for CYCS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYCS Gene

mRNA differential expression in normal tissues according to GTEx for CYCS Gene

This gene is overexpressed in Heart - Left Ventricle (x5.4) and Heart - Atrial Appendage (x4.1).

Protein differential expression in normal tissues from HIPED for CYCS Gene

This gene is overexpressed in Serum (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYCS Gene



Protein tissue co-expression partners for CYCS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYCS Gene:

CYCS

SOURCE GeneReport for Unigene cluster for CYCS Gene:

Hs.437060

Evidence on tissue expression from TISSUES for CYCS Gene

  • Nervous system(5)
  • Liver(4.9)
  • Kidney(4.8)
  • Heart(4.7)
  • Muscle(4.3)
  • Lung(4.2)
  • Skin(4.2)
  • Intestine(3.8)
  • Blood(3.4)
  • Adrenal gland(3.1)
  • Eye(3.1)
  • Stomach(2.7)
  • Bone marrow(2.6)
  • Pancreas(2.5)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Bone(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYCS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeleton
Organs:
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with CYCS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYCS Gene

Orthologs for CYCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYCS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYCS 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYCS 33 34
  • 90.79 (n)
-- 34
  • 90 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cycs 33 16
  • 90.48 (n)
Gm10108 34
  • 90 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CYCS 33 34
  • 89.84 (n)
rat
(Rattus norvegicus)
Mammalia LOC100363502 33
  • 89.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves CYC 34
  • 88 (a)
OneToMany
CYCS 33
  • 81.59 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 86 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cycs 33
  • 75.32 (n)
MGC75709 33
zebrafish
(Danio rerio)
Actinopterygii cycsa 34
  • 49 (a)
OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8580 33
fruit fly
(Drosophila melanogaster)
Insecta Cyt-c-p 33 34
  • 71.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009537 33
  • 69.93 (n)
worm
(Caenorhabditis elegans)
Secernentea cyc-2.1 33 34
  • 60.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYC1 33 34 36
  • 65.35 (n)
CYC7 34
  • 54 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR360W 33
  • 60.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16929g 33
  • 60.73 (n)
soybean
(Glycine max)
eudicotyledons Gma.10771 33
barley
(Hordeum vulgare)
Liliopsida Hv.3294 33
corn
(Zea mays)
Liliopsida Zm.15923 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4826 34
  • 65 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
Species where no ortholog for CYCS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYCS Gene

ENSEMBL:
Gene Tree for CYCS (if available)
TreeFam:
Gene Tree for CYCS (if available)

Paralogs for CYCS Gene

genes like me logo Genes that share paralogs with CYCS: view

No data available for Paralogs for CYCS Gene

Variants for CYCS Gene

Sequence variations from dbSNP and Humsavar for CYCS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121918552 Pathogenic, Thrombocytopenia 4 (THC4) [MIM:612004] 25,123,996(-) AGACA(A/G)GTCAG reference, missense
rs886037737 Pathogenic 25,123,975(-) ACTCT(C/T)ACACA reference, missense
rs10215217 Likely benign 25,121,514(+) cctgg(A/G)cgaaa utr-variant-3-prime
rs11267038 Likely benign 25,124,125(-) TAGAA(G/T)TAAAT utr-variant-5-prime
rs113653188 Likely benign 25,118,976(+) GAACC(-/TAT)TAAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CYCS Gene

Variant ID Type Subtype PubMed ID
nsv606424 CNV gain 21841781
nsv7393 OTHER inversion 18451855
nsv970453 CNV duplication 23825009

Variation tolerance for CYCS Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYCS Gene

Human Gene Mutation Database (HGMD)
CYCS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYCS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYCS Gene

Disorders for CYCS Gene

MalaCards: The human disease database

(38) MalaCards diseases for CYCS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia 4
  • thrombocytopenia autosomal dominant 4
autosomal thrombocytopenia with normal platelets
thrombocytopenia
orbital granuloma
telangiectatic osteogenic sarcoma
  • telangiectatic osteosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search CYCS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CYC_HUMAN
  • Thrombocytopenia 4 (THC4) [MIM:612004]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269 PubMed:18345000}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYCS

Genetic Association Database (GAD)
CYCS
Human Genome Epidemiology (HuGE) Navigator
CYCS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYCS
genes like me logo Genes that share disorders with CYCS: view

No data available for Genatlas for CYCS Gene

Publications for CYCS Gene

  1. Cytochrome c release upon Fas receptor activation depends on translocation of full-length bid and the induction of the mitochondrial permeability transition. (PMID: 11790791) Tafani M … Farber JL (The Journal of biological chemistry 2002) 2 3 22 60
  2. Cytochrome c in the apoptotic and antioxidant cascades. (PMID: 9515723) Skulachev VP (FEBS letters 1998) 3 4 22 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. (PMID: 19172527) Savoia A … Balduini CL (Platelets 2009) 3 45 60
  5. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. (PMID: 18345000) Morison IM … Ledgerwood EC (Nature genetics 2008) 3 4 60

Products for CYCS Gene

  • Addgene plasmids for CYCS

Sources for CYCS Gene

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