Human Gene COX7B (uc004ecu.1)
  Description: Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_001866): Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chrX:77,154,961-77,160,881 Size: 5,921 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chrX:77,155,051-77,160,758 Size: 5,708 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:77,154,961-77,160,881)mRNA (may differ from genome)Protein (80 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COX7B_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 7B, mitochondrial; AltName: Full=Cytochrome c oxidase polypeptide VIIb; Flags: Precursor;
FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
SUBCELLULAR LOCATION: Mitochondrion inner membrane (By similarity).
SIMILARITY: Belongs to the cytochrome c oxidase VIIb family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COX7B
Diseases sorted by gene-association score: linear skin defects with multiple congenital anomalies 2* (919), linear skin defects with multiple congenital anomalies 1* (202), sclerocornea (7), aplasia cutis congenita (6), leigh syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 92.67 RPKM in Heart - Left Ventricle
Total median expression: 1259.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.3090-0.226 Picture PostScript Text
3' UTR -19.70123-0.160 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008433 - Cyt_c_oxidase_suVIIB
IPR023272 - Cyt_c_oxidase_suVIIB_dom

Pfam Domains:
PF05392 - Cytochrome C oxidase chain VIIB

SCOP Domains:
81423 - Mitochondrial cytochrome c oxidase subunit VIIb

ModBase Predicted Comparative 3D Structure on P24311
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004129 cytochrome-c oxidase activity

Biological Process:
GO:0007417 central nervous system development
GO:0022900 electron transport chain
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respiratory chain
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045277 respiratory chain complex IV


-  Descriptions from all associated GenBank mRNAs
  LP896567 - Sequence 1431 from Patent EP3253886.
LF385347 - JP 2014500723-A/192850: Polycomb-Associated Non-Coding RNAs.
Z14244 - H.sapiens coxVIIb mRNA for cytochrome c oxidase subunit VIIb.
BC018386 - Homo sapiens cytochrome c oxidase subunit VIIb, mRNA (cDNA clone MGC:9065 IMAGE:3861730), complete cds.
AK311879 - Homo sapiens cDNA, FLJ92145, Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nucleargene encoding mitochondrial protein, mRNA.
JD077770 - Sequence 58794 from Patent EP1572962.
LF382082 - JP 2014500723-A/189585: Polycomb-Associated Non-Coding RNAs.
EU176472 - Synthetic construct Homo sapiens clone IMAGE:100011330; FLH163905.01L; RZPDo839H01253D cytochrome c oxidase subunit VIIb (COX7B) gene, encodes complete protein.
DQ890544 - Synthetic construct clone IMAGE:100003174; FLH163906.01X; RZPDo839A08162D cytochrome c oxidase subunit VIIb (COX7B) gene, encodes complete protein.
CR450332 - Homo sapiens full open reading frame cDNA clone RZPDo834H121D for gene COX7B, cytochrome c oxidase subunit VIIb; complete cds; without stopcodon.
BT009767 - Homo sapiens cytochrome c oxidase subunit VIIb mRNA, complete cds.
KJ896628 - Synthetic construct Homo sapiens clone ccsbBroadEn_06022 COX7B gene, encodes complete protein.
CR542124 - Homo sapiens full open reading frame cDNA clone RZPDo834B0823D for gene COX7B, cytochrome c oxidase subunit VIIb; complete cds, incl. stopcodon.
LF382089 - JP 2014500723-A/189592: Polycomb-Associated Non-Coding RNAs.
LF382090 - JP 2014500723-A/189593: Polycomb-Associated Non-Coding RNAs.
MA620924 - JP 2018138019-A/192850: Polycomb-Associated Non-Coding RNAs.
MA617659 - JP 2018138019-A/189585: Polycomb-Associated Non-Coding RNAs.
MA617666 - JP 2018138019-A/189592: Polycomb-Associated Non-Coding RNAs.
MA617667 - JP 2018138019-A/189593: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04260 - Cardiac muscle contraction
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

Reactome (by CSHL, EBI, and GO)

Protein P24311 (Reactome details) participates in the following event(s):

R-HSA-163214 Electron transfer from reduced cytochrome c to molecular oxygen
R-HSA-611105 Respiratory electron transport
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-212436 Generic Transcription Pathway
R-HSA-1430728 Metabolism
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4M3, COX7B_HUMAN, NM_001866, NP_001857, P24311, Q6ICR1
UCSC ID: uc004ecu.1
RefSeq Accession: NM_001866
Protein: P24311 (aka COX7B_HUMAN or COXM_HUMAN)
CCDS: CCDS14437.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COX7B:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
microph-lsd (Microphthalmia with Linear Skin Defects Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001866.2
exon count: 3CDS single in 3' UTR: no RNA size: 456
ORF size: 243CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 686.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.