Human Gene UQCC (uc010zva.2) Description and Page Index
  Description: Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_018244): This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr20:33,890,369-33,999,945 Size: 109,577 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr20:33,891,738-33,999,766 Size: 108,029 Coding Exon Count: 6 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:33,890,369-33,999,945)mRNA (may differ from genome)Protein (162 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
TreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): UQCC
CDC HuGE Published Literature: UQCC
Positive Disease Associations: Body Height , height
Related Studies:
  1. Body Height
    Serena Sanna et al. Nature genetics 2008, Common variants in the GDF5-UQCC region are associated with variation in human height., Nature genetics. [PubMed 18193045]
  2. Body Height
    Guillaume Lettre et al. Nature genetics 2008, Identification of ten loci associated with height highlights new biological pathways in human growth., Nature genetics. [PubMed 18391950]
  3. Body Height
    Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics. [PubMed 18391951]
           more ... click here to view the complete list

-  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: 12.42 RPKM in Brain - Cerebellum
Total median expression: 398.49 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 -66.20179-0.370 Picture PostScript Text
3' UTR -506.641369-0.370 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
IPR021150 - Ubiq_cyt_c_chap/UPF0174
IPR007129 - Ubiqinol_cyt_c_chaperone_CPB3

Pfam Domains:
PF03981 - Ubiquinol-cytochrome C chaperone

ModBase Predicted Comparative 3D Structure on B7Z7J8
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     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AY050659 - Homo sapiens CBP3 mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
LF383755 - JP 2014500723-A/191258: Polycomb-Associated Non-Coding RNAs.
AK001712 - Homo sapiens cDNA FLJ10850 fis, clone NT2RP4001474, weakly similar to Xenopus laevis putative Zic3 binding protein mRNA.
BC008871 - Homo sapiens chromosome 20 open reading frame 44, mRNA (cDNA clone IMAGE:4136095), partial cds.
AK022650 - Homo sapiens cDNA FLJ12588 fis, clone NT2RM4001256, weakly similar to Xenopus laevis putative Zic3 binding protein mRNA.
AK022742 - Homo sapiens cDNA FLJ12680 fis, clone NT2RM4002438, weakly similar to Xenopus laevis putative Zic3 binding protein mRNA.
BC119013 - Homo sapiens ubiquinol-cytochrome c reductase complex chaperone, mRNA (cDNA clone MGC:141903 IMAGE:40085306), complete cds.
BC122862 - Homo sapiens ubiquinol-cytochrome c reductase complex chaperone, mRNA (cDNA clone MGC:141902 IMAGE:40085305), complete cds.
AK295379 - Homo sapiens cDNA FLJ55209 complete cds, highly similar to Basic FGF-repressed Zic-binding protein.
AK302133 - Homo sapiens cDNA FLJ60946 complete cds, moderately similar to Basic FGF-repressed Zic-binding protein.
AK225557 - Homo sapiens mRNA for basic FGF-repressed Zic binding protein isoform a variant, clone: KDN03020.
AK293149 - Homo sapiens cDNA FLJ59833 complete cds, highly similar to Basic FGF-repressed Zic-binding protein.
AY050660 - Homo sapiens CBP3 short form mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
BC105791 - Homo sapiens ubiquinol-cytochrome c reductase complex chaperone, mRNA (cDNA clone MGC:104353 IMAGE:6458054), complete cds.
AK293516 - Homo sapiens cDNA FLJ59847 complete cds, highly similar to Basic FGF-repressed Zic-binding protein.
AK225281 - Homo sapiens mRNA for basic FGF-repressed Zic binding protein isoform a variant, clone: HEP00178.
KJ902796 - Synthetic construct Homo sapiens clone ccsbBroadEn_12190 UQCC gene, encodes complete protein.
KJ899101 - Synthetic construct Homo sapiens clone ccsbBroadEn_08495 UQCC gene, encodes complete protein.
AB528278 - Synthetic construct DNA, clone: pF1KE0428, Homo sapiens UQCC gene for ubiquinol-cytochrome c reductase complex chaperone, without stop codon, in Flexi system.
AM392884 - Synthetic construct Homo sapiens clone IMAGE:100002108 for hypothetical protein (C20orf44 gene).
AM393853 - Synthetic construct Homo sapiens clone IMAGE:100002107 for hypothetical protein (C20orf44 gene).
AK300130 - Homo sapiens cDNA FLJ59977 complete cds, highly similar to Basic FGF-repressed Zic-binding protein.
AB209400 - Homo sapiens mRNA for basic FGF-repressed Zic binding protein isoform a variant protein.
AK308819 - Homo sapiens cDNA, FLJ98860.
MA619332 - JP 2018138019-A/191258: Polycomb-Associated Non-Coding RNAs.
AF173893 - Homo sapiens MSTP118 (MST118) mRNA, complete cds.
AL122112 - Homo sapiens mRNA; cDNA DKFZp434D0321 (from clone DKFZp434D0321).
BX537568 - Homo sapiens mRNA; cDNA DKFZp686O0680 (from clone DKFZp686O0680).
AK093804 - Homo sapiens cDNA FLJ36485 fis, clone THYMU2017707.
AX748316 - Sequence 1841 from Patent EP1308459.
AK128252 - Homo sapiens cDNA FLJ46387 fis, clone THYMU3000776.
JD355281 - Sequence 336305 from Patent EP1572962.
JD390567 - Sequence 371591 from Patent EP1572962.
JD502882 - Sequence 483906 from Patent EP1572962.
JD282082 - Sequence 263106 from Patent EP1572962.
JD162378 - Sequence 143402 from Patent EP1572962.
JD061739 - Sequence 42763 from Patent EP1572962.
LF350313 - JP 2014500723-A/157816: Polycomb-Associated Non-Coding RNAs.
JD276966 - Sequence 257990 from Patent EP1572962.
JD181919 - Sequence 162943 from Patent EP1572962.
JD207389 - Sequence 188413 from Patent EP1572962.
JD214491 - Sequence 195515 from Patent EP1572962.
JD330969 - Sequence 311993 from Patent EP1572962.
JD499230 - Sequence 480254 from Patent EP1572962.
JD343037 - Sequence 324061 from Patent EP1572962.
JD108393 - Sequence 89417 from Patent EP1572962.
JD475950 - Sequence 456974 from Patent EP1572962.
JD303479 - Sequence 284503 from Patent EP1572962.
JD170528 - Sequence 151552 from Patent EP1572962.
JD073282 - Sequence 54306 from Patent EP1572962.
JD411388 - Sequence 392412 from Patent EP1572962.
JD528482 - Sequence 509506 from Patent EP1572962.
MA585890 - JP 2018138019-A/157816: Polycomb-Associated Non-Coding RNAs.
LF350334 - JP 2014500723-A/157837: Polycomb-Associated Non-Coding RNAs.
JD100209 - Sequence 81233 from Patent EP1572962.
JD270943 - Sequence 251967 from Patent EP1572962.
LF350335 - JP 2014500723-A/157838: Polycomb-Associated Non-Coding RNAs.
MA585911 - JP 2018138019-A/157837: Polycomb-Associated Non-Coding RNAs.
MA585912 - JP 2018138019-A/157838: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AK302133, B7Z7J8, B7Z7J8_HUMAN
UCSC ID: uc010zva.2
RefSeq Accession: NM_018244
Protein: B7Z7J8

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK302133.1
exon count: 6CDS single in 3' UTR: no RNA size: 1239
ORF size: 489CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1159.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.