UQCC3 (ubiquinol-cytochrome c reductase complex assembly factor 3) - Rat Genome Database

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Gene: UQCC3 (ubiquinol-cytochrome c reductase complex assembly factor 3) Homo sapiens
Analyze
Symbol: UQCC3
Name: ubiquinol-cytochrome c reductase complex assembly factor 3
RGD ID: 2298819
HGNC Page HGNC
Description: Enables cardiolipin binding activity and phosphatidic acid binding activity. Involved in cristae formation; mitochondrial electron transport, ubiquinol to cytochrome c; and mitochondrial respiratory chain complex III assembly. Located in cytosol; mitochondrion; and nucleoplasm. Is integral component of mitochondrial inner membrane. Colocalizes with mitochondrial respiratory chain complex III. Implicated in mitochondrial complex III deficiency nuclear type 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: assembly factor CBP4 homolog; C11orf83; CCDS41658.1; hypothetical protein LOC790955; MC3DN9; MGC87549; ubiquinol-cytochrome-c reductase complex assembly factor 3; UNQ655; UPF0723 protein C11orf83; VEGA:LOC790955
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,670,273 - 62,673,686 (+)EnsemblGRCh38hg38GRCh38
GRCh381162,671,673 - 62,673,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,439,145 - 62,441,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,195,702 - 62,196,428 (+)NCBINCBI36hg18NCBI36
Celera1159,768,705 - 59,769,431 (+)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,767,992 - 58,770,027 (+)NCBIHuRef
CHM1_11162,322,237 - 62,324,273 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12975309   PMID:15340161   PMID:15489334   PMID:20159687   PMID:21873635   PMID:22939629   PMID:25008109   PMID:25605331   PMID:28418037   PMID:28514442  
PMID:29509190   PMID:29509794   PMID:31642232   PMID:32877691   PMID:33147459   PMID:34079125  


Genomics

Comparative Map Data
UQCC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,670,273 - 62,673,686 (+)EnsemblGRCh38hg38GRCh38
GRCh381162,671,673 - 62,673,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,439,145 - 62,441,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,195,702 - 62,196,428 (+)NCBINCBI36hg18NCBI36
Celera1159,768,705 - 59,769,431 (+)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,767,992 - 58,770,027 (+)NCBIHuRef
CHM1_11162,322,237 - 62,324,273 (+)NCBICHM1_1
Uqcc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,857,378 - 8,858,297 (-)NCBIGRCm39mm39
GRCm39 Ensembl198,857,378 - 8,858,287 (-)Ensembl
GRCm38198,880,014 - 8,880,933 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,880,014 - 8,880,923 (-)EnsemblGRCm38mm10GRCm38
MGSCv37198,954,504 - 8,955,423 (-)NCBIGRCm37mm9NCBIm37
MGSCv36198,947,059 - 8,947,978 (-)NCBImm8
Celera198,640,616 - 8,641,535 (-)NCBICelera
Cytogenetic Map19ANCBI
Uqcc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21205,773,591 - 205,774,369 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1205,772,780 - 205,774,376 (-)Ensembl
Rnor_6.01225,076,301 - 225,077,079 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,076,301 - 225,077,079 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,013,921 - 232,014,699 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,549,821 - 211,550,599 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1203,286,367 - 203,287,145 (-)NCBICelera
Cytogenetic Map1q43NCBI
LOC102013363
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955599526,609 - 541,643 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955599540,598 - 541,643 (-)NCBIChiLan1.0ChiLan1.0
LOC100993556
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11161,381,400 - 61,382,684 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01158,028,418 - 58,029,182 (+)NCBIMhudiblu_PPA_v0panPan3
UQCC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11853,984,203 - 53,985,496 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1853,984,771 - 53,985,422 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,589,252 - 52,590,539 (-)NCBI
ROS_Cfam_1.01855,036,321 - 55,037,608 (-)NCBI
UMICH_Zoey_3.11854,132,577 - 54,133,863 (-)NCBI
UNSW_CanFamBas_1.01853,707,591 - 53,708,879 (-)NCBI
UU_Cfam_GSD_1.01854,503,348 - 54,504,636 (-)NCBI
LOC101965457
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,475,349 - 10,477,440 (-)NCBI
SpeTri2.0NW_004936581590,503 - 591,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UQCC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,074,783 - 9,078,536 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,077,055 - 9,078,649 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,423,620 - 8,424,391 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103233987
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,234,810 - 11,235,569 (-)NCBI
ChlSab1.1 Ensembl111,235,023 - 11,235,492 (-)Ensembl
Vero_WHO_p1.0NW_023666038108,568,744 - 108,570,182 (-)NCBI
LOC101724106
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249261,177,498 - 1,178,171 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1263
Count of miRNA genes:444
Interacting mature miRNAs:485
Transcripts:ENST00000377953, ENST00000531323
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 421 70 471 153 594 124 882 125 603 278 600 535 40 87 443 1 2
Low 2018 2897 1255 471 1339 341 3475 2066 3131 141 860 1078 135 1 1117 2345 5
Below cutoff 24 18 6

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377953   ⟹   ENSP00000367189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,671,673 - 62,673,686 (+)Ensembl
RefSeq Acc Id: ENST00000531323   ⟹   ENSP00000432692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,670,273 - 62,673,577 (+)Ensembl
RefSeq Acc Id: NM_001085372   ⟹   NP_001078841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,671,673 - 62,673,686 (+)NCBI
GRCh371162,439,126 - 62,441,162 (+)ENTREZGENE
Build 361162,195,702 - 62,196,428 (+)NCBI Archive
Celera1159,768,705 - 59,769,431 (+)RGD
HuRef1158,767,992 - 58,770,027 (+)ENTREZGENE
CHM1_11162,322,237 - 62,324,273 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001078841 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH90057 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89294 (Get FASTA)   NCBI Sequence Viewer  
  CAI93611 (Get FASTA)   NCBI Sequence Viewer  
  Q6UW78 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001078841   ⟸   NM_001085372
- UniProtKB: Q6UW78 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000432692   ⟸   ENST00000531323
RefSeq Acc Id: ENSP00000367189   ⟸   ENST00000377953

Promoters
RGD ID:6788556
Promoter ID:HG_KWN:13118
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001085372
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,195,556 - 62,196,056 (+)MPROMDB
RGD ID:7220679
Promoter ID:EPDNEW_H16085
Type:initiation region
Name:C11orf83_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,671,673 - 62,671,733EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 copy number gain See cases [RCV000053620] Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3
pathogenic
GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 copy number gain See cases [RCV000053621] Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3
pathogenic
NM_024099.3(LBHD1):c.341G>A (p.Arg114Lys) single nucleotide variant Malignant melanoma [RCV000069568] Chr11:62667720 [GRCh38]
Chr11:62435192 [GRCh37]
Chr11:62191768 [NCBI36]
Chr11:11q12.3
not provided
NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) single nucleotide variant Mitochondrial complex III deficiency, nuclear type 9 [RCV000148301] Chr11:62671804 [GRCh38]
Chr11:62439276 [GRCh37]
Chr11:11q12.3
pathogenic
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 copy number gain See cases [RCV000134807] Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3
uncertain significance
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 copy number gain See cases [RCV000138411] Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3
pathogenic
NM_001085372.3(UQCC3):c.250G>C (p.Gly84Arg) single nucleotide variant not specified [RCV000445211] Chr11:62672082 [GRCh38]
Chr11:62439554 [GRCh37]
Chr11:11q12.3
benign
NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser) single nucleotide variant Mitochondrial complex III deficiency, nuclear type 9 [RCV001554498]|not specified [RCV000438581] Chr11:62672097 [GRCh38]
Chr11:62439569 [GRCh37]
Chr11:11q12.3
benign
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) single nucleotide variant not provided [RCV000427950]|not specified [RCV000602327] Chr11:62672058 [GRCh38]
Chr11:62439530 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001085372.3(UQCC3):c.*11G>A single nucleotide variant not specified [RCV000422436] Chr11:62672125 [GRCh38]
Chr11:62439597 [GRCh37]
Chr11:11q12.3
likely benign
NM_001085372.3(UQCC3):c.121-11C>T single nucleotide variant not specified [RCV000441003] Chr11:62671942 [GRCh38]
Chr11:62439414 [GRCh37]
Chr11:11q12.3
benign
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 copy number loss See cases [RCV000448355] Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001085372.3(UQCC3):c.-41G>C single nucleotide variant not specified [RCV000611038] Chr11:62671705 [GRCh38]
Chr11:62439177 [GRCh37]
Chr11:11q12.3
likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001085372.3(UQCC3):c.206C>T (p.Thr69Ile) single nucleotide variant not provided [RCV000963278] Chr11:62672038 [GRCh38]
Chr11:62439510 [GRCh37]
Chr11:11q12.3
likely benign
GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 copy number gain not provided [RCV000849841] Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001085372.3(UQCC3):c.87C>T (p.Thr29=) single nucleotide variant not provided [RCV000840754] Chr11:62671832 [GRCh38]
Chr11:62439304 [GRCh37]
Chr11:11q12.3
likely benign
NM_024099.4(LBHD1):c.-11+217C>A single nucleotide variant not provided [RCV000844529] Chr11:62671347 [GRCh38]
Chr11:62438819 [GRCh37]
Chr11:11q12.3
benign
NM_001085372.3(UQCC3):c.256G>A (p.Gly86Ser) single nucleotide variant not provided [RCV000963279] Chr11:62672088 [GRCh38]
Chr11:62439560 [GRCh37]
Chr11:11q12.3
likely benign
NM_001085372.3(UQCC3):c.276A>C (p.Ser92=) single nucleotide variant not provided [RCV000930688] Chr11:62672108 [GRCh38]
Chr11:62439580 [GRCh37]
Chr11:11q12.3
likely benign
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34399 AgrOrtholog
COSMIC UQCC3 COSMIC
Ensembl Genes ENSG00000204922 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000367189 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432692 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000531323 UniProtKB/Swiss-Prot
GTEx ENSG00000204922 GTEx
HGNC ID HGNC:34399 ENTREZGENE
Human Proteome Map UQCC3 Human Proteome Map
InterPro UQCC3 UniProtKB/Swiss-Prot
KEGG Report hsa:790955 UniProtKB/Swiss-Prot
NCBI Gene 790955 ENTREZGENE
OMIM 616097 OMIM
  616111 OMIM
PANTHER PTHR36465 UniProtKB/Swiss-Prot
Pfam DUF4574 UniProtKB/Swiss-Prot
PharmGKB PA162377760 PharmGKB
UniProt Q6UW78 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5FVD5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-29 UQCC3  ubiquinol-cytochrome c reductase complex assembly factor 3  C11orf83  chromosome 11 open reading frame 83  Symbol and/or name change 5135510 APPROVED