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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UQCC1 Gene

protein-coding   GIFtS: 37
GCID: GC20M033891

Ubiquinol-Cytochrome C Reductase Complex Assembly Factor...

(Previous names: chromosome 20 open reading frame 44, ubiquinol-cytochrome...)
(Previous symbols: C20orf44, UQCC)
  Search for UQCC1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 11 2     Chromosome 20 Open Reading Frame 441
C20orf441 2 3 5     Cytochrome B Protein Synthesis 3 Homolog (S. Cerevisiae)1
Basic FGF-Repressed Zic-Binding Protein1 2 3     Ubiquinol-Cytochrome C Reductase Complex Chaperone1
UQCC1 2 5     Cytochrome B Protein Synthesis 3 Homolog2
BFGF-Repressed Zic-Binding Protein2 3     Ubiquinol-Cytochrome C Reductase Complex Chaperone CBP3 Homolog2
BFZB2 5     BZFB3
CBP32 5     bFZb3

External Ids:    HGNC: 158911   Entrez Gene: 552452   Ensembl: ENSG000001010197   OMIM: 6117975   UniProtKB: Q9NVA13   

Export aliases for UQCC1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UQCC1 Gene:
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)

GeneCards Summary for UQCC1 Gene: 
UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1) is a protein-coding gene.

Gene Wiki entry for UQCC1 (UQCC) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for UQCC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUQCC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UQCC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UQCC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

UQCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCC1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M033891:  view genomic region     (about GC identifiers)

Start:
33,890,369 bp from pter      End:
33,999,945 bp from pter
Size:
109,577 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UQCC_HUMAN, Q9NVA1 (See protein sequence)
Recommended Name: Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog  
Size: 299 amino acids; 34600 Da
Subcellular location: Cytoplasmic vesicle (By similarity). Note=Cytoplasmic vesicular structures (By similarity)
Sequence caution: Sequence=AAL13119.1; Type=Erroneous initiation; Sequence=BAB14156.1; Type=Erroneous termination;
Positions=240; Note=Translated as Glu; Sequence=BAB14217.1; Type=Miscellaneous discrepancy; Note=Erroneous CDS
prediction;
Secondary accessions: B1AKV5 Q0VF37 Q5T348 Q5T351 Q5T353 Q86YU3 Q86YU4 Q96H66 Q9H438 Q9H452
Q9H9K8 Q9H9R5
Alternative splicing: 5 isoforms:  Q9NVA1-1   Q9NVA1-2   Q9NVA1-3   Q9NVA1-4   Q9NVA1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UQCC1: NX_Q9NVA1

Explore proteomics data for UQCC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NVA1

  • UQCC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UQCC1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001171906.1  NP_060714.3  NP_955781.2  

    ENSEMBL proteins: 
     ENSP00000411024   ENSP00000335364   ENSP00000352161   ENSP00000363515   ENSP00000363505  
     ENSP00000363501   ENSP00000363506   ENSP00000390334   ENSP00000399713   ENSP00000416246  
     ENSP00000398531   ENSP00000380686   ENSP00000420584   ENSP00000380685   ENSP00000386064  
     ENSP00000363497   ENSP00000380688   ENSP00000441316   ENSP00000445059  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--

    UQCC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    2 InterPro protein domains:
     IPR021150 Ubiq_cyt_c_chap/UPF0174
     IPR007129 Ubiqinol_cyt_c_chaperone_CPB3

    Graphical View of Domain Structure for InterPro Entry Q9NVA1

    ProtoNet protein and cluster: Q9NVA1

    1 Blocks protein domain: IPB007129 Ubiquinol-cytochrome C chaperone

    UniProtKB/Swiss-Prot: UQCC_HUMAN, Q9NVA1
    Similarity: Belongs to the CBP3 family


    UQCC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for UQCC1:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UQCC1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UQCC1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for UQCC1 (Q9NVA13 ENSP000003635064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA2P515873, ENSP000003694974I2D: score=1 STRING: ENSP00000369497
    SETD1BQ9UPS63, ENSP000002671974I2D: score=1 STRING: ENSP00000267197
    SETD1AO150473, ENSP000002625194I2D: score=1 STRING: ENSP00000262519
    HAX1O001653I2D: score=1 
    KIAA1279Q96EK53I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UQCC1 (UQCC)

    Search CenterWatch for drugs/clinical trials and news about UQCC1 / UQCC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UQCC1 gene (4 alternative transcripts): 
    NM_001184977.1  NM_018244.4  NM_199487.2  NM_199513.1  

    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000472559(uc002xcc.3) ENST00000457259 ENST00000349714(uc021wcl.1)
    ENST00000359226 ENST00000374394 ENST00000374384 ENST00000374380 ENST00000374385(uc010zuy.2 uc002xcd.3 uc010zva.2 uc010gfb.3 uc010zvb.2 uc002xcg.3 uc002xcf.3 uc010zuz.2)
    ENST00000453855 ENST00000496812 ENST00000482440 ENST00000473982 ENST00000424405
    ENST00000497717 ENST00000443429 ENST00000438533 ENST00000397554(uc002xci.1 uc010gfd.2)
    ENST00000498651
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    Inhib. RNA
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    24/354 AceView cDNA sequences (see all 354):

    BQ421826 AK128252 AA953400 BQ068711 NM_199513 AU280736 BG107034 CF131902 
    BX401972 BM457124 BQ229567 NM_018244 BQ771857 BM477465 AI685235 BQ217259 
    BX354763 AL122112 BC008871 AL523391 AA350805 AA448657 AK093804 BX090333 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for UQCC1 (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16 ^ 17a · 17b ·
    SP1:                                                                    -     -                                               -     -     -           -         
    SP2:                                                                    -     -                                               -     -     -     -     -         
    SP3:                                                                    -     -     -     -     -     -                       -     -     -           -         
    SP4:                                                                    -     -                       -     -                 -     -     -           -         
    SP5:                                                                    -     -                                                                                 

    ExUns: 17c ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g
    SP1:  -                                             
    SP2:  -                                             
    SP3:  -                                             
    SP4:  -                                             
    SP5:                                                


    ECgene alternative splicing isoforms for UQCC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UQCC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UQCC1 Expression
    About this image


    See UQCC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UQCC1
        SABiosciences Custom PCR Arrays for UQCC1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for UQCC1 gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uqcc1 , 5 ubiquinol-cytochrome c reductase complex chaperone, more1, 5 87.68(n)1
    88.81(a)1
      2 (77.26 cM)5
    560461  NM_018888.41  NP_061376.21 
     1558468945 
    chicken
    (Gallus gallus)
    Aves UQCC1 ubiquinol-cytochrome c reductase complex chaperone 71.91(n)
    66.89(a)
      419139  NM_001006285.1  NP_001006285.1 
    lizard
    (Anolis carolinensis)
    Reptilia UQCC6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    4(134031473-134085813)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981002 putative Zic3 binding protein 75.31(n)    AF129131.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.25112 Transcribed sequence with weak similarity to protein more 73.95(n)    CK016454.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100751 CG10075 48.74(n)
    39.2(a)
      38758  NM_139807.3  NP_648064.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C35D10.56
    Protein C35D10.5
    22(a)
    1 ↔ 1
    III(4862352-4863425)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CBP3(YPL215W)4 Mitochondrial protein required for assembly of cytochrome more   --   16(147416-148423) 855886  NP_015109.1 


    ENSEMBL Gene Tree for UQCC1 (if available)
    TreeFam Gene Tree for UQCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2218 SNPs in UQCC1 are shown (see all 2218)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401052001,2
    --33893265(+) TGCTGA/CTGGCC 3 -- ds50010--------
    rs1502857071,2
    --33893320(+) GGCTCC/TTTCAA 3 -- ds50010--------
    rs766602681,2
    C,F--33893393(+) AGCTCT/CGTAGG 3 -- ds50011Minor allele frequency- C:0.07NA 120
    rs60603551,2
    C,F,A,H--33893394(+) GCTCTA/GTAGGC 3 -- ds500125Minor allele frequency- G:0.50NS EA NA WA CSA 2356
    rs1869335361,2
    --33893398(+) TGTAGA/GCAGGG 3 -- ds50010--------
    rs1140339881,2
    C,F--33893434(+) CCAGGG/ACCTGC 3 -- ds50011Minor allele frequency- A:0.02WA 118
    rs81153941,2
    C,F,H--33893683(+) CTGTTC/GCATTA 3 -- ds500110Minor allele frequency- G:0.13EA NS WA NA 630
    rs1918195961,2
    --33893820(+) TAAATA/GGTGCC 3 -- ut310--------
    rs1171971401,2
    C,F--33893978(+) CCATAT/CAGAGT 3 -- ut311Minor allele frequency- C:0.02NA 120
    rs1839083211,2
    --33893998(+) TGACTA/CATTTT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for UQCC1 (33890369 - 33999945 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UQCC1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UQCC1
    DNA2.0 Custom Variant and Variant Library Synthesis for UQCC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UQCC1 for disorders           About MalaCards
    OMIM gene information: 611797    OMIM disorders: --


    UQCC1 for disorders           About GeneDecksing


    Export disorders for UQCC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UQCC1 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with UQCC1)
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    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    4. Genome-wide association study identified UQCC locus fo r spine bone size in humans. (PubMed id 23207799)1 Deng F.Y....Deng H.W. (2013)
    5. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Serum VEGF levels and tissue activation of VEGFR2/KDR receptors in patients with breast and gynecologic cancer. (PubMed id 21208810)1 Koukourakis M.I....Giatromanolaki A. (2011)
    8. The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endotheli al cells. (PubMed id 21224470)1 Testori J....Hofer E. (2011)
    9. Expression of tumor-associated macrophages and vascul ar endothelial growth factor correlates with poor prognosis of peripheral T-cel l lymphoma, not otherwise specified. (PubMed id 21077742)1 Zhang W....Wu Y. (2011)
    10. Current and potential anticancer drugs targeting memb ers of the UHRF1 complex including epigenetic modifiers. (PubMed id 21110828)1 Unoki M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55245 HGNC: 15891 AceView: C20orf44 Ensembl:ENSG00000101019 euGenes: HUgn55245
    ECgene: UQCC1 H-InvDB: UQCC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UQCC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UQCC1 gene:
    Search GeneIP for patents involving UQCC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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