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UQCRC1 ubiquinol-cytochrome c reductase core protein 1 [ Homo sapiens (human) ]

Gene ID: 7384, updated on 4-Jan-2025

Summary

Official Symbol
UQCRC1provided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase core protein 1provided by HGNC
Primary source
HGNC:HGNC:12585
See related
Ensembl:ENSG00000010256 MIM:191328; AllianceGenome:HGNC:12585
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QCR1; PKNPY; UQCR1; D3S3191
Summary
Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues See more
Orthologs
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Genomic context

See UQCRC1 in Genome Data Viewer
Location:
3p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48599002..48609646, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48627962..48639898, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48636435..48647079, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48605535-48606482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48607079-48607628 Neighboring gene collagen type VII alpha 1 chain Neighboring gene urocortin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48625763-48626466 Neighboring gene microRNA 711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48626467-48627168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48638465-48638965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48647149-48647663 Neighboring gene small nucleolar RNA, H/ACA box 94 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48651179-48651678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48666910-48667410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48667411-48667911 Neighboring gene transmembrane protein 89 Neighboring gene solute carrier family 26 member 6 Neighboring gene microRNA 6824

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Parkinsonism with polyneuropathy
MedGen: C5543299 OMIM: 619279 GeneReviews: Not available
not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ubiquinol-cytochrome c reductase core protein I (UQCRC1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding  
enables protein binding PubMed 
enables protein-containing complex binding  
enables ubiquinol-cytochrome-c reductase activity PubMed 
enables ubiquitin protein ligase binding PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane PubMed 
located_in mitochondrial inner membrane  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion  
part_of respiratory chain complex PubMed 
part_of respiratory chain complex III  

General protein information

Preferred Names
cytochrome b-c1 complex subunit 1, mitochondrial
Names
complex III subunit 1
core protein I
ubiquinol-cytochrome c reductase core protein I
ubiquinol-cytochrome-c reductase complex core protein 1
NP_003356.2
XP_054203719.1

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_003365.3NP_003356.2  cytochrome b-c1 complex subunit 1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_003356.2

    Status: VALIDATED

    Source sequence(s)
    AA284910, AK129903, L16842
    Consensus CDS
    CCDS2774.1
    UniProtKB/Swiss-Prot
    B2R7R8, P31930, Q96DD2
    UniProtKB/TrEMBL
    A0AAQ5BHN1
    Related
    ENSP00000203407.5, ENST00000203407.6
    Conserved Domains (1) summary
    COG0612
    Location:41469
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    48599002..48609646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    48627962..48639898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347744.1XP_054203719.1  cytochrome b-c1 complex subunit 1, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2R7R8, P31930, Q96DD2
    UniProtKB/TrEMBL
    A0AAQ5BHN1
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