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    UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 55245, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UQCC1provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase complex assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:15891
    See related
    Ensembl:ENSG00000101019 MIM:611797; AllianceGenome:HGNC:15891
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BFZB; CBP3; UQCC; C20orf44
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 16.7), adrenal (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UQCC1 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35302578..35411973, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37023439..37132841, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33890381..33999776, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33872587-33873137 Neighboring gene FAM83C antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83 member C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33892105-33892925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33899341-33900264 Neighboring gene Sharpr-MPRA regulatory region 6334 Neighboring gene Sharpr-MPRA regulatory region 14546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999108-33999931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999932-34000754 Neighboring gene MPRA-validated peak4201 silencer Neighboring gene GDF5 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12857 Neighboring gene GDF5 antisense RNA 1 Neighboring gene growth differentiation factor 5 Neighboring gene microRNA 1289-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of tumor-associated macrophages and vascular endothelial growth factor correlates with poor prognosis of peripheral T-cell lymphoma, not otherwise specified. Zhang W, et al. Leuk Lymphoma, 2011 Jan. PMID 21077742
    2. A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH. Sun Y, et al. PLoS One, 2015. PMID 25848760, Free PMC Article
    3. Genome-wide association study identified UQCC locus for spine bone size in humans. Deng FY, et al. Bone, 2013 Mar. PMID 23207799, Free PMC Article
    4. Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers. Unoki M. Recent Pat Anticancer Drug Discov, 2011 Jan. PMID 21110828
    5. Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. Wang F, et al. ACS Chem Biol, 2011 Feb 18. PMID 21043486

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single nucleotide polymorphism in UQCC is associated with developmental dysplasia of the hip.
      Title: A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.
    2. UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2.
      Title: A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
    3. This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis.
      Title: Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
    4. study identified a novel locus, i.e., the UQCC gene, for spine BS variation in humans. Future functional studies will contribute to elucidating the mechanisms by which UQCC regulates bone growth and development
      Title: Genome-wide association study identified UQCC locus for spine bone size in humans.
    5. Data show that high serum VEGF levels are closely related to the activation status of the VEGFR2/KDR receptor in cancer cells, indicating a stimulatory effect of serum VEGF on the VEGF pathway contributing to tumor progression.
      Title: Serum VEGF levels and tissue activation of VEGFR2/KDR receptors in patients with breast and gynecologic cancer.
    6. Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
      Title: Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
    7. These data suggest that HLX may function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions.
      Title: The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endothelial cells.
    8. High VEGF is associated with peripheral T-cell lymphoma.
      Title: Expression of tumor-associated macrophages and vascular endothelial growth factor correlates with poor prognosis of peripheral T-cell lymphoma, not otherwise specified.
    9. Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers.
      Title: Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers.
    10. GPC3 was significantly more often and more strongly expressed in HCCs (72%) than in FLCs (17%).
      Title: Fibrolamellar hepatocellular carcinoma: an immunohistochemical comparison with conventional hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Common variants in the GDF5-UQCC region are associated with variation in human height.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide association study identified UQCC locus for spine bone size in humans.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104353, MGC141902

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex III assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquinol-cytochrome c reductase complex assembly factor 1
    Names
    bFGF-repressed Zic-binding protein
    basic FGF-repressed Zic-binding protein
    cytochrome B protein synthesis 3 homolog
    ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021421.1 RefSeqGene

      Range
      5170..114565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184977.2 → NP_001171906.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform c

      See identical proteins and their annotated locations for NP_001171906.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons compared to variant 1. The resulting isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK293516, AY050659, BC119013
      Consensus CDS
      CCDS54458.1
      UniProtKB/TrEMBL
      B1AKV3
      Related
      ENSP00000363501.2, ENST00000374380.6
      Conserved Domains (1) summary
      pfam03981
      Location:68 → 203
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    2. NM_018244.5 → NP_060714.3  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform a

      See identical proteins and their annotated locations for NP_060714.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL121752, AY050659, BC119013
      Consensus CDS
      CCDS13252.1
      UniProtKB/Swiss-Prot
      B1AKV5, Q0VF37, Q5T348, Q5T351, Q5T353, Q86YU3, Q86YU4, Q96H66, Q9H438, Q9H452, Q9H9K8, Q9H9R5, Q9NVA1
      UniProtKB/TrEMBL
      B1AKV3, Q3KRB6
      Related
      ENSP00000363506.5, ENST00000374385.10
      Conserved Domains (1) summary
      pfam03981
      Location:136 → 271
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    3. NM_199487.3 → NP_955781.2  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform b

      See identical proteins and their annotated locations for NP_955781.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK022650, AL121752, AL121753, AY050659
      Consensus CDS
      CCDS13253.2
      UniProtKB/TrEMBL
      B1AKV3
      Related
      ENSP00000363505.2, ENST00000374384.6
      Conserved Domains (1) summary
      pfam03981
      Location:136 → 245
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35302578..35411973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528878.3 → XP_011527180.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X2

      UniProtKB/TrEMBL
      B1AKV3
      Related
      ENSP00000399713.1, ENST00000424405.5
      Conserved Domains (1) summary
      pfam03981
      Location:104 → 239
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    2. XM_011528877.2 → XP_011527179.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X1

      Conserved Domains (1) summary
      pfam03981
      Location:150 → 285
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    3. XM_011528879.2 → XP_011527181.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X3

      See identical proteins and their annotated locations for XP_011527181.1

      UniProtKB/TrEMBL
      F6UTR7
      Related
      ENSP00000380688.4, ENST00000397556.7
      Conserved Domains (1) summary
      pfam03981
      Location:90 → 227
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    4. XM_011528881.4 → XP_011527183.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X4

      See identical proteins and their annotated locations for XP_011527183.1

      UniProtKB/TrEMBL
      B7Z314
      Conserved Domains (1) summary
      pfam03981
      Location:37 → 172
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    5. XM_011528880.3 → XP_011527182.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X3

      See identical proteins and their annotated locations for XP_011527182.1

      UniProtKB/TrEMBL
      F6UTR7
      Conserved Domains (1) summary
      pfam03981
      Location:90 → 227
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    6. XM_047440254.1 → XP_047296210.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37023439..37132841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323609.1 → XP_054179584.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X2

    2. XM_054323608.1 → XP_054179583.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X1

    3. XM_054323611.1 → XP_054179586.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X4

      UniProtKB/TrEMBL
      B7Z314

    4. XM_054323610.1 → XP_054179585.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X3

    5. XM_054323612.1 → XP_054179587.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199513.1: Suppressed sequence

      Description
      NM_199513.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVA1.3 GenPept UniProtKB/Swiss-Prot:Q9NVA1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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