UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UQCRFS1provided by HGNC
Official Full Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1provided by HGNC
Primary source: HGNC:HGNC:12587
See related: Ensembl:ENSG00000169021 MIM:191327; AllianceGenome:HGNC:12587
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: RIP1; RIS1; RISP; UQCR5; MC3DN10
Summary: Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart (RPKM 101.2), kidney (RPKM 70.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (29205320..29213151, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (31736436..31744253, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (29696227..29704058, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Pulse-chase SILAC-based analyses reveal selective oversynthesis and rapid turnover of mitochondrial protein components of respiratory complexes.
Title: Pulse-chase SILAC-based analyses reveal selective oversynthesis and rapid turnover of mitochondrial protein components of respiratory complexes.
Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-kappaB/cyclin D1 pathway.
Title: Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-κB/cyclin D1 pathway.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Title: Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. We show that, in normal conditions, these UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment.
Title: TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
UQCRFS1/RISP knockdown in breast tumor cell line led to decreased mitochondrial membrane potential as well as a decrease in matrigel invasion.
Title: Impaired OXPHOS complex III in breast cancer.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
UQCRFS1 gene appears to be involved in development of more aggressive phenotype of breast cancer.
Title: Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples.

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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
Mitochondrial complex 3 deficiency, nuclear type 10 MedGen: C5394051 OMIM: 618775 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, Rieske iron-sulfur polypeptide 1 (UQCRFS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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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

GDB:607737 (e-PCR)
- UniSTS:158275

G13234 (e-PCR)
- UniSTS:26438

RH143354 (e-PCR)
- UniSTS:232601

RH39082 (e-PCR)
- UniSTS:85679

PMC196577P2 (e-PCR)
- UniSTS:271815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquinol-cytochrome-c reductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex III assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial respiratory chain complex III	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex III	IC Inferred by Curator more info	PubMed
part_of mitochondrial respiratory chain complex III	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome b-c1 complex subunit Rieske, mitochondrial

Names: Rieske iron-sulfur protein; Rieske protein UQCRFS1; complex III subunit 5; cytochrome b-c1 complex subunit 5; epididymis secretory sperm binding protein; ubiquinol-cytochrome c reductase iron-sulfur subunit

NP_005994.2

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_006003.3 → NP_005994.2 cytochrome b-c1 complex subunit Rieske, mitochondrial

See identical proteins and their annotated locations for NP_005994.2

Status: VALIDATED

Source sequence(s)

AC007786, BC010035, BF210184, BF979273

Consensus CDS

CCDS12415.1

UniProtKB/Swiss-Prot

A8K519, P47985, Q6NVX5, Q9UPH2

UniProtKB/TrEMBL

A0A384NPX8

Related

ENSP00000306397.3, ENST00000304863.6

Conserved Domains (4) summary

cd03470
Location:151 → 274

Rieske_cytochrome_bc1; Iron-sulfur protein (ISP) component of the bc(1) complex family, Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. The bc(1) complex is a multisubunit enzyme found in many different organisms including ...

TIGR01416
Location:110 → 274

Rieske_proteo; ubiquinol-cytochrome c reductase, iron-sulfur subunit

pfam02921
Location:80 → 145

UCR_TM; Ubiquinol cytochrome reductase transmembrane region

pfam09165
Location:2 → 76

Ubiq-Cytc-red_N; Ubiquinol-cytochrome c reductase 8 kDa, N-terminal