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    Uqcc1 ubiquinol-cytochrome c reductase complex assembly factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 56046, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Uqcc1provided by MGI
    Official Full Name
    ubiquinol-cytochrome c reductase complex assembly factor 1provided by MGI
    Primary source
    MGI:MGI:1929472
    See related
    Ensembl:ENSMUSG00000005882 AllianceGenome:MGI:1929472
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bfzb; Bfzp; Cbp3; Uqcc; 2310079L17Rik; 2410003P15Rik; 3110038N19Rik
    Summary
    Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in cytoplasmic vesicle. Is expressed in several structures, including eye and nervous system. Orthologous to human UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 12.1), cerebellum adult (RPKM 6.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Uqcc1 in Genome Data Viewer
    Location:
    2 H1; 2 77.26 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (155688806..155772230, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (155846886..155930310, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83, member C Neighboring gene predicted gene, 54125 Neighboring gene STARR-seq mESC enhancer starr_06151 Neighboring gene STARR-seq mESC enhancer starr_06152 Neighboring gene growth differentiation factor 5 Neighboring gene centrosomal protein 250 Neighboring gene predicted gene, 50621

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Expression of a novel mouse gene 'mbFZb' in distinct regions of the developing nervous system and the adult brain. Vetter K, et al. Mech Dev, 2001 Jan. PMID 11118897
    2. Genetic mapping of a mouse modifier gene that can prevent ALS onset. Kunst CB, et al. Genomics, 2000 Dec 1. PMID 11112346
    3. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Calvo SE, et al. Proc Natl Acad Sci U S A, 2009 May 5. PMID 19372376, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA 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
    basic FGF repressed, zinc binding protein
    basic FGF-repressed Zic-binding protein
    ubiquinol-cytochrome c reductase complex chaperone, CBP3 homolog

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001355441.1 → NP_001342370.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL845445
      UniProtKB/TrEMBL
      A6PWX7
      Conserved Domains (1) summary
      pfam03981
      Location:37 → 172
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    2. NM_001355442.1 → NP_001342371.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL845445
      UniProtKB/TrEMBL
      A6PWX7
      Conserved Domains (1) summary
      pfam03981
      Location:37 → 172
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    3. NM_001355443.1 → NP_001342372.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AL845445
      UniProtKB/TrEMBL
      A6PWX8
      Conserved Domains (1) summary
      pfam03981
      Location:152 → 291
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    4. NM_018888.4 → NP_061376.2  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform a

      See identical proteins and their annotated locations for NP_061376.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice junction in the 5' end compared to variant 4. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AK139488, BB761198
      Consensus CDS
      CCDS16957.2
      UniProtKB/Swiss-Prot
      A2ARK1, Q3TET9, Q9CRP2, Q9CWU6, Q9JK78
      UniProtKB/TrEMBL
      A6PWX9
      Related
      ENSMUSP00000105264.5, ENSMUST00000109636.11
      Conserved Domains (1) summary
      pfam03981
      Location:132 → 271
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      155688806..155772230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251889.1 → XP_030107749.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X4

      Conserved Domains (1) summary
      pfam03981
      Location:132 → 196
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    2. XM_011239706.3 → XP_011238008.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X3

      Conserved Domains (1) summary
      pfam03981
      Location:152 → 216
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    3. XM_006499922.4 → XP_006499985.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X2

      Conserved Domains (1) summary
      pfam03981
      Location:132 → 194
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    4. XM_011239705.3 → XP_011238007.1  ubiquinol-cytochrome c reductase complex assembly factor 1 isoform X1

      Conserved Domains (1) summary
      pfam03981
      Location:152 → 214
      Ubiq_cyt_C_chap; Ubiquinol-cytochrome C chaperone

    RNA

    1. XR_003953679.1 RNA Sequence

      Related
      ENSMUST00000136933.8

    2. XR_003953678.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CWU6.1 GenPept UniProtKB/Swiss-Prot:Q9CWU6

    Gene LinkOut

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

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