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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 Variation Viewer (GRCh37.p13)

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

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