Human Gene CYCS (ENST00000305786.7_7) from GENCODE V47lift37
  Description: cytochrome c, somatic (from RefSeq NM_018947.6)
Gencode Transcript: ENST00000305786.7_7
Gencode Gene: ENSG00000172115.9_11
Transcript (Including UTRs)
   Position: hg19 chr7:25,158,275-25,164,879 Size: 6,605 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr7:25,163,320-25,163,738 Size: 419 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:25,158,275-25,164,879)mRNA (may differ from genome)Protein (105 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CYC_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c;
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.
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.
INTERACTION: O14727:APAF1; NbExp=6; IntAct=EBI-446479, EBI-446492;
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Note=Loosely associated with the inner membrane.
PTM: Binds 1 heme group per subunit.
PTM: Phosphorylation at Tyr-49 and Tyr-98 both reduce by half the turnover in the reaction with cytochrome c oxidase, down- regulating mitochondrial respiration (By similarity).
DISEASE: Defects in CYCS are the cause of thrombocytopenia type 4 (THC4) [MIM:612004]; also known as autosomal dominant thrombocytopenia type 4. Thrombocytopenia is the presence of relatively few platelets in blood. THC4 is a non-syndromic form of thrombocytopenia. Clinical manifestations of thrombocytopenia are absent or mild. THC4 may be caused by dysregulated platelet formation.
SIMILARITY: Belongs to the cytochrome c family.
WEB RESOURCE: Name=Protein Spotlight; Note=Life shuttle - Issue 76 of November 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt076.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYCS
Diseases sorted by gene-association score: thrombocytopenia 4* (1328), autosomal thrombocytopenia with normal platelets* (247), thrombocytopenia (17), orbital granuloma (14), telangiectatic osteogenic sarcoma (10), myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (10), bone cancer (9), alzheimer disease mitochondrial (9), tyrosinemia, type i (9), optic atrophy 1 (8), bladder transitional cell papilloma (7), lung cancer (7), cardiac arrest (7), hemangioma (6), breast adenocarcinoma (6), colorectal cancer (5), chronic orbital inflammation (5), blue cone monochromacy (5), hemorrhagic cystitis (5), spastic paraplegia 7, autosomal recessive (5), huntington disease (4), suppression amblyopia (4), vestibular nystagmus (4), cardiomyopathy, hypertrophic, 2 (4), carbuncle (4), ischemia (3), cervical cancer, somatic (3), prostate cancer (2), hepatocellular carcinoma (2), alzheimer disease (2), toxic encephalopathy (1), parkinson disease, late-onset (1), hematologic cancer (1), osteosarcoma, somatic (1), neuroblastoma (1), autonomic nervous system neoplasm (1), stroke, ischemic (1), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 91.11 RPKM in Heart - Left Ventricle
Total median expression: 1277.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.9069-0.245 Picture PostScript Text
3' UTR -1903.805045-0.377 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002327 - Cyt_c_1A/1B
IPR009056 - Cyt_c_dom
IPR003088 - Cyt_c_I

Pfam Domains:
PF00034 - Cytochrome c
PF13442 - Cytochrome C oxidase, cbb3-type, subunit III

SCOP Domains:
46626 - Cytochrome c

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1J3S - NMR MuPIT 3NWV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P99999
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0020037 heme binding
GO:0045155 electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity
GO:0046872 metal ion binding
GO:0004722 protein serine/threonine phosphatase activity

Biological Process:
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0006470 protein dephosphorylation
GO:0006915 apoptotic process
GO:0007005 mitochondrion organization
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0034599 cellular response to oxidative stress
GO:0045333 cellular respiration
GO:0055114 oxidation-reduction process
GO:0097193 intrinsic apoptotic signaling pathway

Cellular Component:
GO:0000159 protein phosphatase type 2A complex
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  JD442834 - Sequence 423858 from Patent EP1572962.
JD446349 - Sequence 427373 from Patent EP1572962.
JD291734 - Sequence 272758 from Patent EP1572962.
JD446348 - Sequence 427372 from Patent EP1572962.
AK056360 - Homo sapiens cDNA FLJ31798 fis, clone NT2RI2009005.
LF207137 - JP 2014500723-A/14640: Polycomb-Associated Non-Coding RNAs.
AL713681 - Homo sapiens mRNA; cDNA DKFZp761O0217 (from clone DKFZp761O0217).
JD101411 - Sequence 82435 from Patent EP1572962.
JD269536 - Sequence 250560 from Patent EP1572962.
JD229989 - Sequence 211013 from Patent EP1572962.
JD281949 - Sequence 262973 from Patent EP1572962.
JD296376 - Sequence 277400 from Patent EP1572962.
JD093038 - Sequence 74062 from Patent EP1572962.
JD184167 - Sequence 165191 from Patent EP1572962.
JD207967 - Sequence 188991 from Patent EP1572962.
JD074281 - Sequence 55305 from Patent EP1572962.
JD373597 - Sequence 354621 from Patent EP1572962.
JD430595 - Sequence 411619 from Patent EP1572962.
JD430596 - Sequence 411620 from Patent EP1572962.
JD217831 - Sequence 198855 from Patent EP1572962.
JD421970 - Sequence 402994 from Patent EP1572962.
JD048067 - Sequence 29091 from Patent EP1572962.
JD325558 - Sequence 306582 from Patent EP1572962.
JD286168 - Sequence 267192 from Patent EP1572962.
JD427937 - Sequence 408961 from Patent EP1572962.
JD410499 - Sequence 391523 from Patent EP1572962.
JD219396 - Sequence 200420 from Patent EP1572962.
JD176848 - Sequence 157872 from Patent EP1572962.
JD334351 - Sequence 315375 from Patent EP1572962.
JD107496 - Sequence 88520 from Patent EP1572962.
JD078214 - Sequence 59238 from Patent EP1572962.
JD270461 - Sequence 251485 from Patent EP1572962.
JD504413 - Sequence 485437 from Patent EP1572962.
JD132537 - Sequence 113561 from Patent EP1572962.
JD511847 - Sequence 492871 from Patent EP1572962.
JD321987 - Sequence 303011 from Patent EP1572962.
JD095290 - Sequence 76314 from Patent EP1572962.
JD271415 - Sequence 252439 from Patent EP1572962.
JD423483 - Sequence 404507 from Patent EP1572962.
JD200624 - Sequence 181648 from Patent EP1572962.
JD523656 - Sequence 504680 from Patent EP1572962.
JD351795 - Sequence 332819 from Patent EP1572962.
JD448381 - Sequence 429405 from Patent EP1572962.
JD541216 - Sequence 522240 from Patent EP1572962.
JD300624 - Sequence 281648 from Patent EP1572962.
JD494287 - Sequence 475311 from Patent EP1572962.
JD114579 - Sequence 95603 from Patent EP1572962.
JD374350 - Sequence 355374 from Patent EP1572962.
JD506294 - Sequence 487318 from Patent EP1572962.
JD356586 - Sequence 337610 from Patent EP1572962.
JD415068 - Sequence 396092 from Patent EP1572962.
JD476834 - Sequence 457858 from Patent EP1572962.
JD379815 - Sequence 360839 from Patent EP1572962.
JD330333 - Sequence 311357 from Patent EP1572962.
JD205337 - Sequence 186361 from Patent EP1572962.
JD243647 - Sequence 224671 from Patent EP1572962.
JD352390 - Sequence 333414 from Patent EP1572962.
JD048099 - Sequence 29123 from Patent EP1572962.
JD363206 - Sequence 344230 from Patent EP1572962.
JD450509 - Sequence 431533 from Patent EP1572962.
JD534090 - Sequence 515114 from Patent EP1572962.
JD229336 - Sequence 210360 from Patent EP1572962.
JD289145 - Sequence 270169 from Patent EP1572962.
JD300170 - Sequence 281194 from Patent EP1572962.
JD404166 - Sequence 385190 from Patent EP1572962.
JD127390 - Sequence 108414 from Patent EP1572962.
JD457911 - Sequence 438935 from Patent EP1572962.
JD457359 - Sequence 438383 from Patent EP1572962.
JD457358 - Sequence 438382 from Patent EP1572962.
JD457357 - Sequence 438381 from Patent EP1572962.
JD522981 - Sequence 504005 from Patent EP1572962.
JD405608 - Sequence 386632 from Patent EP1572962.
JD404165 - Sequence 385189 from Patent EP1572962.
JD334358 - Sequence 315382 from Patent EP1572962.
JD107507 - Sequence 88531 from Patent EP1572962.
JD535803 - Sequence 516827 from Patent EP1572962.
JD456221 - Sequence 437245 from Patent EP1572962.
JD507401 - Sequence 488425 from Patent EP1572962.
JD538276 - Sequence 519300 from Patent EP1572962.
JD252515 - Sequence 233539 from Patent EP1572962.
JD212242 - Sequence 193266 from Patent EP1572962.
JD522902 - Sequence 503926 from Patent EP1572962.
JD232595 - Sequence 213619 from Patent EP1572962.
JD283757 - Sequence 264781 from Patent EP1572962.
JD427736 - Sequence 408760 from Patent EP1572962.
JD467445 - Sequence 448469 from Patent EP1572962.
JD141030 - Sequence 122054 from Patent EP1572962.
JD227532 - Sequence 208556 from Patent EP1572962.
JD522901 - Sequence 503925 from Patent EP1572962.
JD547570 - Sequence 528594 from Patent EP1572962.
JD522900 - Sequence 503924 from Patent EP1572962.
JD161501 - Sequence 142525 from Patent EP1572962.
JD547569 - Sequence 528593 from Patent EP1572962.
JD045007 - Sequence 26031 from Patent EP1572962.
JD203530 - Sequence 184554 from Patent EP1572962.
JD498145 - Sequence 479169 from Patent EP1572962.
JD226214 - Sequence 207238 from Patent EP1572962.
JD262922 - Sequence 243946 from Patent EP1572962.
JD058724 - Sequence 39748 from Patent EP1572962.
JD370754 - Sequence 351778 from Patent EP1572962.
JD339808 - Sequence 320832 from Patent EP1572962.
BC068464 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:87065 IMAGE:4826114), complete cds.
BC024216 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone IMAGE:4824157).
BC021994 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:24510 IMAGE:4096609), complete cds.
BC009582 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14636 IMAGE:4082112), complete cds.
BC008477 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14765 IMAGE:4290897), complete cds.
LF362339 - JP 2014500723-A/169842: Polycomb-Associated Non-Coding RNAs.
BC005299 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:12367 IMAGE:3838954), complete cds.
BC009578 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14602 IMAGE:3961416), complete cds.
BC008475 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14760 IMAGE:4284529), complete cds.
D00265 - Homo sapiens mRNA for cytochrome c, partial cds.
BC009602 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14694 IMAGE:4134675), complete cds.
BC016006 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:27280 IMAGE:4656402), complete cds.
BC071761 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:88380 IMAGE:4656503), complete cds.
BC070346 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:88352 IMAGE:3826017), complete cds.
BC009607 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14763 IMAGE:4287362), complete cds.
BC014359 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:24234 IMAGE:3930323), complete cds.
BC014361 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:24243 IMAGE:3931721), complete cds.
BC070156 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:88136 IMAGE:6451982), complete cds.
BC009579 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14603 IMAGE:4045034), complete cds.
BC009587 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:14650 IMAGE:4096763), complete cds.
LF362340 - JP 2014500723-A/169843: Polycomb-Associated Non-Coding RNAs.
JD233896 - Sequence 214920 from Patent EP1572962.
JD507749 - Sequence 488773 from Patent EP1572962.
JD369416 - Sequence 350440 from Patent EP1572962.
BC022330 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:22759 IMAGE:4280695), complete cds.
BC015130 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:24248 IMAGE:3932265), complete cds.
BC067222 - Homo sapiens cytochrome c, somatic, mRNA (cDNA clone MGC:72005 IMAGE:3685258), complete cds.
JD263598 - Sequence 244622 from Patent EP1572962.
JD300901 - Sequence 281925 from Patent EP1572962.
JD241296 - Sequence 222320 from Patent EP1572962.
JD499360 - Sequence 480384 from Patent EP1572962.
JD409707 - Sequence 390731 from Patent EP1572962.
JD113152 - Sequence 94176 from Patent EP1572962.
JD357050 - Sequence 338074 from Patent EP1572962.
LF362342 - JP 2014500723-A/169845: Polycomb-Associated Non-Coding RNAs.
JD410955 - Sequence 391979 from Patent EP1572962.
CR542175 - Homo sapiens full open reading frame cDNA clone RZPDo834B1024D for gene CYCS, cytochrome c, somatic; complete cds, incl. stopcodon.
AK311836 - Homo sapiens cDNA, FLJ92098, Homo sapiens cytochrome c (HCS), mRNA.
DQ893038 - Synthetic construct clone IMAGE:100005668; FLH192890.01X; RZPDo839A0678D cytochrome c, somatic (CYCS) gene, encodes complete protein.
BT006946 - Homo sapiens cytochrome c, somatic mRNA, complete cds.
KJ894012 - Synthetic construct Homo sapiens clone ccsbBroadEn_03406 CYCS gene, encodes complete protein.
KJ898971 - Synthetic construct Homo sapiens clone ccsbBroadEn_08365 CYCS gene, encodes complete protein.
KR710178 - Synthetic construct Homo sapiens clone CCSBHm_00010208 CYCS (CYCS) mRNA, encodes complete protein.
DQ896279 - Synthetic construct Homo sapiens clone IMAGE:100010739; FLH192886.01L; RZPDo839A0668D cytochrome c, somatic (CYCS) gene, encodes complete protein.
AB489158 - Synthetic construct DNA, clone: pF1KB3400, Homo sapiens CYCS gene for cytochrome c, somatic, without stop codon, in Flexi system.
AM393213 - Synthetic construct Homo sapiens clone IMAGE:100001942 for hypothetical protein (CYCS gene).
AM393423 - Synthetic construct Homo sapiens clone IMAGE:100001911 for hypothetical protein (CYCS gene).
LF362343 - JP 2014500723-A/169846: Polycomb-Associated Non-Coding RNAs.
LF362344 - JP 2014500723-A/169847: Polycomb-Associated Non-Coding RNAs.
JD289248 - Sequence 270272 from Patent EP1572962.
MA442714 - JP 2018138019-A/14640: Polycomb-Associated Non-Coding RNAs.
MA597916 - JP 2018138019-A/169842: Polycomb-Associated Non-Coding RNAs.
MA597917 - JP 2018138019-A/169843: Polycomb-Associated Non-Coding RNAs.
MA597919 - JP 2018138019-A/169845: Polycomb-Associated Non-Coding RNAs.
MA597920 - JP 2018138019-A/169846: Polycomb-Associated Non-Coding RNAs.
MA597921 - JP 2018138019-A/169847: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-8145 - cytochrome c biogenesis

Reactome (by CSHL, EBI, and GO)

Protein P99999 (Reactome details) participates in the following event(s):

R-HSA-114254 Cytochrome C Binds to Apaf-1
R-HSA-114284 Release of Cytochrome c from mitochondria
R-HSA-5688294 SIRT5 deacetylates Cytochrome C
R-HSA-114256 Cytochrome C:Apaf-1 binds Procaspase-9
R-HSA-164651 Electron transfer from ubiquinol to cytochrome c of complex III
R-HSA-3341294 Superoxide reduces cytochrome c
R-HSA-163214 Electron transfer from reduced cytochrome c to molecular oxygen
R-HSA-114259 Cleavage of Procaspase-9 to Caspase-9
R-HSA-114252 Cleavage of Procaspase-3 by the apoptosome
R-HSA-114261 Cleavage of Procaspase-7 by the apoptosome
R-HSA-111458 Formation of apoptosome
R-HSA-111457 Release of apoptotic factors from the mitochondria
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-111461 Cytochrome c-mediated apoptotic response
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-111471 Apoptotic factor-mediated response
R-HSA-109581 Apoptosis
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-2262752 Cellular responses to stress
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavage
R-HSA-5357801 Programmed Cell Death
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-212436 Generic Transcription Pathway
R-HSA-1430728 Metabolism
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A4D166, B2R4I1, CYC, CYC_HUMAN, ENST00000305786.1, ENST00000305786.2, ENST00000305786.3, ENST00000305786.4, ENST00000305786.5, ENST00000305786.6, NM_018947, P00001, P99999, Q6NUR2, Q6NX69, Q96BV4, uc317nrt.1, uc317nrt.2
UCSC ID: ENST00000305786.7_7
RefSeq Accession: NM_018947.6
Protein: P99999 (aka CYC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.