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

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, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
Title: Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
Title: Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.
Title: The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Title: Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
High miR-214-3p expression may promote osteosarcoma cell proliferation by targeting UQCRC1.
Title: RNA Sequencing of Osteosarcoma Gene Expression Profile Revealed that miR-214-3p Facilitates Osteosarcoma Cell Proliferation via Targeting Ubiquinol-Cytochrome c Reductase Core Protein 1 (UQCRC1).
dysregulated UQCRC1 and UQCRFS1 are involved in impaired mitochondrial electron transport chain function.
Title: Systematic expression analysis of the mitochondrial complex III subunits identifies UQCRC1 as biomarker in clear cell renal cell carcinoma.
Gene expression level of UQCRC1 is significantly higher in AD patients when compared to normal controls.
Title: Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2761E (e-PCR)
- UniSTS:150805

GDB:568587 (e-PCR)
- UniSTS:157725

UQCRC1 (e-PCR)
- UniSTS:505224

D3S1320E (e-PCR)
- UniSTS:147369

RH11439 (e-PCR)
- UniSTS:25592

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables ubiquinol-cytochrome-c reductase activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	TAS Traceable Author Statement more info	PubMed
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	NAS Non-traceable Author Statement more info	PubMed
involved_in oxidative phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of respiratory chain complex	TAS Traceable Author Statement more info	PubMed
part_of respiratory chain complex III	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 7.1.1.8

XP_054203719.1

EC 7.1.1.8

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)

NM_003365.3 → NP_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:41 → 469

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

48599002..48609646 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

48627962..48639898 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2R7R8, P31930, Q96DD2

UniProtKB/TrEMBL

A0AAQ5BHN1