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UQCRC1 Gene

protein-coding GIFtS: 67
GCID: GC03M048636

Ubiquinol-Cytochrome C Reductase Core Protein I

Alzheimer's & Parkinson's Diseases Congress

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at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Ubiquinol-Cytochrome C Reductase Core Protein I¹ ²		D3S3191²
Complex III Subunit 1² ³		QCR1²
Core Protein I² ³		UQCR1²
Ubiquinol-Cytochrome-C Reductase Complex Core Protein 1² ³		Cytochrome B-C1 Complex Subunit 1, Mitochondrial²

External Ids:	HGNC: 12585¹	Entrez Gene: 7384²	Ensembl: ENSG00000010256⁷	OMIM: 191328⁵	UniProtKB: P31930³

Export aliases for UQCRC1 gene to outside databases

Previous GC identifers: GC03M048426 GC03M047919 GC03M048597 GC03M048611

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UQCRC1 Gene:

UQCRC1 (ubiquinol-cytochrome c reductase core protein I) is a protein-coding gene. Diseases associated with UQCRC1 include labyrinthitis, and huntington's disease. GO annotations related to this gene include ubiquinol-cytochrome-c reductase activity and protein complex binding. An important paralog of this gene is PMPCB.

UniProtKB/Swiss-Prot: QCR1_HUMAN, P31930

Function: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1

complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex

between cytochromes c and c1

Gene Wiki entry for UQCRC1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000003.12 NC_018914.2 NT_022517.19

Regulatory elements:

Regulatory transcription factor binding sites in the UQCRC1 gene promoter:
HOXA9 GR AP-1 GR-beta ATF-2 MyoD HNF-4alpha2 HNF-4alpha1 c-Jun GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UQCRC1 promoter sequence

Search Chromatin IP Primers for UQCRC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UQCRC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21

UQCRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCRC1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M048636: view genomic region (about GC identifiers)

Start:	48,636,432 bp from pter	End:	48,648,409 bp from pter
Size:	11,978 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: QCR1_HUMAN, P31930 (See protein sequence)

Recommended Name: Cytochrome b-c1 complex subunit 1, mitochondrial precursor

Size: 480 amino acids; 52646 Da

Subunit: The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and

Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6,

UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1)

Caution: Does not seem to have a protease activity as it lack the zinc-binding site

Secondary accessions: B2R7R8 Q96DD2

Explore the universe of human proteins at neXtProt for UQCRC1: NX_P31930

Explore proteomics data for UQCRC1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys225

Modification sites at PhosphoSitePlus

See UQCRC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_003356.2

ENSEMBL proteins:

ENSP00000203407 ENSP00000393696 ENSP00000388660

Reactome Protein details: P31930

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

comIII: Mitochondrial respiratory chain complex / Complex III

4 InterPro protein domains:

IPR011765 Pept_M16_N

IPR011237 Pept_M16_dom

IPR007863 Peptidase_M16_C

IPR011249 Metalloenz_LuxS/M16

Graphical View of Domain Structure for InterPro Entry P31930

ProtoNet protein and cluster: P31930

1 Blocks protein domain: IPB001431 Insulinase-like peptidase

UniProtKB/Swiss-Prot: QCR1_HUMAN, P31930

Similarity: Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily

UQCRC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: QCR1_HUMAN, P31930

Function: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1

complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex

between cytochromes c and c1

Genatlas biochemistry entry for UQCRC1:

ubiquinol cytochrome c reductase,core protein 1,component of complex III of mitochondrial respiratory

chain,oxidative phosphorylation (OXPHOS)

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0005515	protein binding	--	--
GO:0008121	ubiquinol-cytochrome-c reductase activity	TAS	8407948
GO:0032403	protein complex binding	IEA	--
GO:0046872	metal ion binding	IEA	--

UQCRC1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for UQCRC1:

Decreased Salmonella enterica

1 MGI phenotypic allele

for Uqcrc1 (no phenotypes)

UQCRC1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UQCRC1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UQCRC1

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genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UQCRC1

miRNA Products:		miRTarBase miRNAs that target UQCRC1: hsa-mir-30c-5p (MIRT048017), hsa-mir-877-3p (MIRT036834), hsa-mir-20a-5p (MIRT050603), hsa-mir-93-5p (MIRT048908), hsa-mir-1296-5p (MIRT036152), hsa-mir-183-5p (MIRT047130), hsa-mir-320b (MIRT036243)

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRC1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

QCR1_HUMAN, P31930: Mitochondrion inner membrane

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	3

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005746	mitochondrial respiratory chain	TAS	8407948
GO:0005750	mitochondrial respiratory chain complex III	IEA	--

UQCRC1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for UQCRC1 About

See pathways by source

SuperPath

Contained pathways About

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	0.81	Oxidative phosphorylation	0.64
Respiratory electron transport	0.81	Parkinson's disease	0.57
Electron Transport Chain	0.75	Huntington's disease	0.45
The citric acid (TCA) cycle and respiratory electron transport	0.71	Non-alcoholic fatty liver disease (NAFLD)	0.41

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Alzheimer's disease

Alzheimer's disease

0.44

Cardiac muscle contraction

Cardiac muscle contraction

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for UQCRC1

Electron Transport Chain

1 Reactome Pathway for UQCRC1

Respiratory electron transport

Selected Kegg Pathways (Kegg details for UQCRC1) (see all 7):

	Oxidative phosphorylation
	Metabolic pathways
	Cardiac muscle contraction
	Non-alcoholic fatty liver disease (NAFLD)
	Alzheimer's disease

UQCRC1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including UQCRC1:

Mitochondrial Energy Metabolism in human mouse rat

Alzheimer's Disease in human mouse rat

Interactions:

GeneGlobe Interaction Network for UQCRC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for UQCRC1 (P31930^{2, 3} ENSP00000203407⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 404)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UQCRFS1	P47985²^,³, ENSP00000306397⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000306397
UQCRC2	P22695²^,³, ENSP00000268379⁴	MINT-8079030 I2D: score=4 STRING: ENSP00000268379
TRIM63	Q969Q1²^,³, ENSP00000363390⁴	MINT-6503720 I2D: score=2 STRING: ENSP00000363390
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
CYCS	P99999³, ENSP00000307786⁴	I2D: score=3 STRING: ENSP00000307786

About this table

Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006119	oxidative phosphorylation	TAS	8407948
GO:0006122	mitochondrial electron transport, ubiquinol to cytochrome c	IEA	--
GO:0009060	aerobic respiration	TAS	8407948
GO:0014823	response to activity	IEA	--
GO:0022904	respiratory electron transport chain	TAS	--

UQCRC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for UQCRC1 (QCR1)

3 HMDB Compounds for UQCRC1 About this table

Compound	Synonyms	CAS #	PubMed Ids
QH2	CoQH2 (see all 5)	56275-39-9	--
Ubiquinone Q1	Coenzyme Q (see all 9)	727-81-1	--
Ubiquinone Q2	2-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)	606-06-4	--

9 DrugBank Compounds for UQCRC1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE	--	--	target	--	10592235
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol	--	--	target	--	10592235
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE	--	--	target	--	10592235
5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole	3-undecyl-2-hydroxydioxobenzothiazol (see all 4)	43152-58-5	target	--	10592235
FAMOXADONE	--	--	target	--	10592235
METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE	--	--	target	--	10592235
METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE	--	--	target	--	10592235
Myxothiazol	--	76706-55-3	target	--	10592235
UBIQUINONE-2	--	--	target	--	10592235

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for UQCRC1 gene:

NM_003365.2

Unigene Cluster for UQCRC1:

Ubiquinol-cytochrome c reductase core protein I

Hs.119251 [show with all ESTs]

Unigene Representative Sequence: L16842

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000471189 ENST00000203407(uc003cub.1) ENST00000480561 ENST00000415995

ENST00000460105 ENST00000472438 ENST00000412343 ENST00000467690 ENST00000463708

ENST00000493806

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		QuantiFast Probe-based Assays in human, mouse, rat UQCRC1

Additional mRNA sequence:

AK129903.1 AK300694.1 AK302840.1 AK313090.1 BC009586.1 BC127208.1 BC127209.1 D26485.1

L16842.1

Selected DOTS entries (see all 29):

DT.419800 DT.95184760 DT.100881541 DT.97860726 DT.95125803 DT.100881539 DT.100044968 DT.100765431

DT.100881554 DT.85104839 DT.95127100 DT.95127202 DT.100881562 DT.120881626 DT.75188876 DT.100759986

DT.100831369 DT.102835469 DT.120881575 DT.120881586 DT.91977936 DT.92464897 DT.95127096 DT.95127197

Selected AceView cDNA sequences (see all 71):

BU538638 BQ063063 BM665242 BE219413 AI359223 BE044324 BX091306 BU739303

BM749965 BE503784 BE858103 BM712531 BQ056846 BU738328 BM714676 AW590676

BM674265 AI926277 BM673813 AB011536 BM555126 AW770479 BE467095 AA773736

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC1 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12	^	13
SP1:							-																																-
SP2:							-
SP3:
SP4:
SP5:																	-

ECgene alternative splicing isoforms for UQCRC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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UQCRC1 expression in normal human tissues (normalized intensities) UQCRC1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCTGGCTGC

About this image

UQCRC1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 21) fully expand


Brain (Nervous System) fully expand to see all 8 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 4 entries
Metencephalon

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Kidney (Urinary System)
Metanephros

Ovary (Reproductive System)
Oviduct

UQCRC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

UQCRC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.119251

Pathway & Disease-focused RT² Profiler PCR Arrays including UQCRC1:

Mitochondrial Energy Metabolism in human mouse rat

Alzheimer's Disease in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for UQCRC1 OriGene qSTAR qPCR primer pairs in human, mouse for UQCRC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat UQCRC1
		QuantiTect SYBR Green Assays in human, mouse, rat UQCRC1
		QuantiFast Probe-based Assays in human, mouse, rat UQCRC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for UQCRC1 gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Uqcrc1^{1 , 5}	ubiquinol-cytochrome c reductase core protein 1^{1, 5}	85.76(n)¹ 88.75(a)¹		9 (59.63 cM)⁵ 22273¹ NM_025407.2¹ NP_079683.2¹ 108936648⁵
chicken (Gallus gallus)	Aves	UQCRC1¹	ubiquinol-cytochrome c reductase core protein I	70.44(n) 70.02(a)		416013 XM_414356.4 XP_414356.2
lizard (Anolis carolinensis)	Reptilia	UQCRC1⁶	ubiquinol-cytochrome c reductase core protein I	66(a)	1 ↔ 1	2(164416907-164439137)
African clawed frog (Xenopus laevis)	Amphibia	MGC53748²	similar to ubiquinol-cytochrome c reductase core protein more	73.94(n)		BC049288.1
zebrafish (Danio rerio)	Actinopterygii	zgc73404²	hypothetical protein MGC73404	72.98(n)		393793 BC059705.1
fruit fly (Drosophila melanogaster)	Insecta	CG3731³	mitochondrial processing peptidase	57(a)		88D6 --
worm (Caenorhabditis elegans)	Secernentea	ZC410.2³ ucr-1¹	mitochondrial processing peptidase³ ucr-1¹	43(a) (best of 2)³ 49.36(n)¹ 40.22(a)¹		IV(9074536-9076682)³ 175772¹ NM_065801.6¹ NP_498202.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	COR1(YBL045C)⁴	Core subunit of the ubiquinol-cytochrome c reductase more	--		2(135516-134143) 852235 NP_009508.1

ENSEMBL Gene Tree for UQCRC1 (if available)
TreeFam Gene Tree for UQCRC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for UQCRC1 gene

PMPCB²

2 SIMAP similar genes for UQCRC1 using alignment to 3 protein entries: QCR1_HUMAN (see all proteins):

DKFZp586I1223 PMPCB

UQCRC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs149417073^1,2		--	48636018(+)	`AAGAGA/GCATCC`	1	--	ds500¹		0	--	--	--	--
rs10452030^1,2	C,F,H	--	48636099(+)	`GTGAGG/AGGTTT`	1	--	ds500¹		8		NS EA NA	1088
rs112816623^1,2	C	--	48636182(+)	`ACTCCC/TACAGC`	1	--	ds500¹		1		CSA	2
rs137942548^1,2	C	--	48636206(+)	`CAGCTA/GGCTGA`	1	--	ds500¹		0	--	--	--	--
rs142423669^1,2		--	48636304(+)	`GCTTGC/TCCCTG`	1	--	ds500¹		0	--	--	--	--
rs145946164^1,2		--	48636357(+)	`AGCCAC/GAGAAC`	1	--	ds500¹		0	--	--	--	--
rs139827846^1,2		--	48636464(+)	`GGTCAC/TCTGTG`	1	--	ut3¹		0	--	--	--	--
rs9166^1,2	C,F	--	48636507(-)	`CCCCCC/AACCAC`	1	--	ut3¹ ese³ trp³		3		MN NA EU	779
rs8547^1,2	C,F	--	48636509(-)	`CCCCCC/TCCACC`	1	--	ut3¹ ese³ trp³		3		MN NA EU	779
rs139174123^1,2	C	--	48636559(+)	`TTCCCG/ACCTAG`	1	--	ut3¹		1		EU	1197

HapMap Linkage Disequilibrium report for UQCRC1 (48636432 - 48648409 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for UQCRC1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv876762	CNV	Loss	21882294
nsv834685	CNV	Loss	17160897
nsv3811	CNV	Loss	18451855
nsv523981	CNV	Loss	19592680
nsv822074	CNV	Gain	20364138
nsv818138	CNV	Gain	17921354

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 191328 OMIM disorders: --

15 diseases for UQCRC1: About MalaCards

labyrinthitis huntington's disease fatty liver disease cystic fibrosis

pneumonia tonsillitis parkinson's disease schizophrenia

alzheimer's disease liver disease tuberculosis cerebritis

thyroiditis endotheliitis prostatitis

UQCRC1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

1 Novoseek inferred disease relationship for UQCRC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	1	16775426 (1)

Genetic Association Database (GAD): UQCRC1
Human Genome Epidemiology (HuGE) Navigator: UQCRC1 (1 document)

Export disorders for UQCRC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for UQCRC1 gene, integrated from 10 sources (see all 46):
(articles sorted by number of sources associating them with UQCRC1)

Utopia: connect your pdf to the dynamic
world of online information

Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol- cytochrome c reductase. (PubMed id 8407948)^{1, 2, 3} Hoffman G.G.... Greenspan D.S. (J. Biol. Chem. 1993)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)^{1, 2} Aboulaich N.... Vener A.V. (Biochem. J. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. (PubMed id 10453733)^{1, 2} Valnot I.... Roetig A. (Hum. Genet. 1999)
A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 8069229)^{1, 2} Islam M.M.... Ozawa T. (Biochem. Mol. Biol. Int. 1994)
A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 7981668)^{1, 2} Islam M.M....Ozawa T. (Biochem. Mol. Biol. Int. 1994)
A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 7951059)^{1, 2} Islam M.M....Ozawa T. (Biochem. Mol. Biol. Int. 1994)
Human liver protein map: update 1993. (PubMed id 8313870)^{1, 2} Hughes G.J.... Hochstrasser D.F. (Electrophoresis 1993)
Proteomic analysis of mitochondria-to-nucleus retrograde response in human cancer. (PubMed id 16775426)^{1, 9} Kulawiec M....Singh K.K. (amp 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7384	HGNC: 12585	AceView: UQCRC1	Ensembl:ENSG00000010256	euGenes: HUgn7384
ECgene: UQCRC1	Kegg: 7384	H-InvDB: UQCRC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UQCRC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UQCRC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for UQCRC1 gene:
Search GeneIP for patents involving UQCRC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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UQCRC1 Gene

Ubiquinol-Cytochrome C Reductase Core Protein I

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UQCRC1 Gene

Ubiquinol-Cytochrome C Reductase Core Protein I

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