Human Gene CYBA (ENST00000569359.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H3BR52)
RefSeq Summary (NM_000101): Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CA311054.1, CA311071.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000261623.8/ ENSP00000261623.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000569359.5
Gencode Gene: ENSG00000051523.11
Transcript (Including UTRs)
   Position: hg38 chr16:88,645,087-88,651,030 Size: 5,944 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr16:88,646,098-88,651,013 Size: 4,916 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,645,087-88,651,030)mRNA (may differ from genome)Protein (128 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BR52_HUMAN
DESCRIPTION: SubName: Full=Cytochrome b-245 light chain;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: CYBA
Diseases sorted by gene-association score: chronic granulomatous disease, autosomal, due to deficiency of cyba* (1300), chronic granulomatous disease* (467), phagocyte bactericidal dysfunction (9), diabetic polyneuropathy (7), atherosclerosis (6), tetralogy of fallot (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 187.27 RPKM in Whole Blood
Total median expression: 1115.53 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 0.00170.000 Picture PostScript Text
3' UTR -422.001011-0.417 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
IPR007732 - Cyt_b558_asu

Pfam Domains:
PF05038 - Cytochrome Cytochrome b558 alpha-subunit

ModBase Predicted Comparative 3D Structure on H3BR52
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0020037 heme binding

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC006465 - Homo sapiens cytochrome b-245, alpha polypeptide, mRNA (cDNA clone MGC:2279 IMAGE:3502788), complete cds.
M21186 - Human neutrophil cytochrome b light chain p22 phagocyte b-cytochrome mRNA, complete cds.
HH837079 - Sequence 6 from Patent EP2231168.
HI214720 - Sequence 6 from Patent EP2076526.
HV601522 - JP 2011500003-A/6: Novel siRNA Structures.
HV708913 - JP 2012506450-A/11: Methods for treating eye disorders.
HV856595 - JP 2010507387-A/6: Novel siRNAs and Methods of Use Thereof.
HW061133 - JP 2012529430-A/8: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165082 - JP 2013102767-A/6: Novel siRNA's and Use Thereof.
HW675590 - JP 2014210789-A/6: Novel siRNA Structures.
HW835278 - JP 2015051004-A/6: Novel siRNA's and Use Thereof.
JA482091 - Sequence 74 from Patent WO2011072091.
JA538121 - Sequence 6 from Patent EP2371958.
JB251941 - Sequence 8 from Patent EP2440214.
JE980383 - Sequence 74 from Patent EP2862929.
LF384486 - JP 2014500723-A/191989: Polycomb-Associated Non-Coding RNAs.
LP764840 - Sequence 8 from Patent EP3276004.
MA620063 - JP 2018138019-A/191989: Polycomb-Associated Non-Coding RNAs.
MA421964 - JP 2018519830-A/7: UTRs increasing the translation efficiency of RNA molecules.
MS836043 - Sequence 7 from Patent EP3112469.
AK097127 - Homo sapiens cDNA FLJ39808 fis, clone SPLEN2009081.
AK300049 - Homo sapiens cDNA FLJ57889 complete cds, highly similar to Cytochrome b-245 light chain.
BT006861 - Homo sapiens cytochrome b-245, alpha polypeptide mRNA, complete cds.
DQ893235 - Synthetic construct clone IMAGE:100005865; FLH195484.01X; RZPDo839C12152D cytochrome b-245, alpha polypeptide (CYBA) gene, encodes complete protein.
DQ896565 - Synthetic construct Homo sapiens clone IMAGE:100011025; FLH195480.01L; RZPDo839C12151D cytochrome b-245, alpha polypeptide (CYBA) gene, encodes complete protein.
AB590173 - Synthetic construct DNA, clone: pFN21AE1371, Homo sapiens CYBA gene for cytochrome b-245, alpha polypeptide, without stop codon, in Flexi system.
BC033739 - Homo sapiens cytochrome b-245, alpha polypeptide, mRNA (cDNA clone IMAGE:5179916), with apparent retained intron.
BC028224 - Homo sapiens cytochrome b-245, alpha polypeptide, mRNA (cDNA clone IMAGE:5217162), with apparent retained intron.
BC048338 - Homo sapiens mRNA similar to cytochrome b-245, alpha polypeptide (cDNA clone IMAGE:5212219).
AK309030 - Homo sapiens cDNA, FLJ99071.
BC011565 - Homo sapiens cytochrome b-245, alpha polypeptide, mRNA (cDNA clone IMAGE:4563468), with apparent retained intron.
AK125578 - Homo sapiens cDNA FLJ43590 fis, clone SMINT2001818.
KJ901368 - Synthetic construct Homo sapiens clone ccsbBroadEn_10762 CYBA gene, encodes complete protein.
LF375076 - JP 2014500723-A/182579: Polycomb-Associated Non-Coding RNAs.
MA610653 - JP 2018138019-A/182579: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04670 - Leukocyte transendothelial migration
hsa05140 - Leishmaniasis

-  Other Names for This Gene
  Alternate Gene Symbols: BC048338, H3BR52, H3BR52_HUMAN, uc002fld.1, uc002fld.2, uc002fld.3
UCSC ID: uc002fld.3
RefSeq Accession: NM_000101
Protein: H3BR52

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CYBA:
cgd (Chronic Granulomatous Disease)

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