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Aliases for COA7 Gene

Aliases for COA7 Gene

  • Cytochrome C Oxidase Assembly Factor 7 (Putative) 2 3 5
  • Cytochrome C Oxidase Assembly Factor 7 2 3
  • Respiratory Chain Assembly Factor 1 3 4
  • Sel1 Repeat-Containing Protein 1 3 4
  • Beta-Lactamase Hcp-Like Protein 3 4
  • Respiratory Chain Assembly 1 2 3
  • Sel1 Repeat Containing 1 2 3
  • C1orf163 3 4
  • SELRC1 3 4
  • RESA1 3 4
  • Hcp Beta-Lactamase-Like Protein C1orf163 3
  • Chromosome 1 Open Reading Frame 163 2

External Ids for COA7 Gene

Previous HGNC Symbols for COA7 Gene

  • C1orf163
  • SELRC1

Previous GeneCards Identifiers for COA7 Gene

  • GC01M053154

Summaries for COA7 Gene

GeneCards Summary for COA7 Gene

COA7 (Cytochrome C Oxidase Assembly Factor 7 (Putative)) is a Protein Coding gene. Diseases associated with COA7 include Mitochondrial Complex Iv Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for COA7 Gene

  • Required for assembly of mitochondrial respiratory chain complex I and complex IV.

Additional gene information for COA7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA7 Gene

Genomics for COA7 Gene

GeneHancer (GH) Regulatory Elements for COA7 Gene

Promoters and enhancers for COA7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J052697 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.4 +0.2 217 2.2 HDGF FOXA2 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 COA7 GC01P052696 ENSG00000228838 MAGOH TUT4 LOC100652967 ENSG00000226938 TXNDC12-AS1 SLC25A6P3 GAPDHP51
GH01J052706 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 659.2 -9.8 -9802 2.6 MEIS2 FOXA2 MAX RAD21 YY1 GATA3 FOSL2 ZNF189 RXRA HLF COA7 NDUFS5P3 GC01P052710 ZYG11B SCP2
GH01J052926 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 7.5 -229.2 -229152 1.8 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 ZFP91 NFKBIZ ECHDC2 SCP2 MIR1273F COA7 SLC1A7
GH01J052702 Enhancer 1.3 Ensembl ENCODE 9.9 -5.0 -4989 1.7 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZYG11B COA7 NDUFS5P3
GH01J052674 Enhancer 0.9 ENCODE 6.4 +21.2 21198 5.7 HDGF FOXA2 PKNOX1 ATF1 YY1 TCF12 FOS ATF7 RXRA NCOA1 GPX7 TUT4 ZYG11B COA7 SCP2 SHISAL2A PIR34624 GC01P052685
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COA7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COA7 Gene

Genomic Locations for COA7 Gene
chr1:52,684,451-52,698,366
(GRCh38/hg38)
Size:
13,916 bases
Orientation:
Minus strand
chr1:53,152,014-53,164,038
(GRCh37/hg19)
Size:
12,025 bases
Orientation:
Minus strand

Genomic View for COA7 Gene

Genes around COA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA7 Gene

Proteins for COA7 Gene

  • Protein details for COA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BR5-COA7_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 7
    Protein Accession:
    Q96BR5
    Secondary Accessions:
    • Q0P6I7
    • Q9H9Z9

    Protein attributes for COA7 Gene

    Size:
    231 amino acids
    Molecular mass:
    25709 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COA7 Gene

Post-translational modifications for COA7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COA7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COA7 Gene

Domains & Families for COA7 Gene

Gene Families for COA7 Gene

Protein Domains for COA7 Gene

Suggested Antigen Peptide Sequences for COA7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BR5

UniProtKB/Swiss-Prot:

COA7_HUMAN :
  • Belongs to the hcp beta-lactamase family.
Family:
  • Belongs to the hcp beta-lactamase family.
genes like me logo Genes that share domains with COA7: view

Function for COA7 Gene

Molecular function for COA7 Gene

UniProtKB/Swiss-Prot Function:
Required for assembly of mitochondrial respiratory chain complex I and complex IV.
genes like me logo Genes that share phenotypes with COA7: view

Human Phenotype Ontology for COA7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COA7 Gene

Localization for COA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA7 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COA7 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with COA7: view

Pathways & Interactions for COA7 Gene

genes like me logo Genes that share pathways with COA7: view

Pathways by source for COA7 Gene

1 KEGG pathway for COA7 Gene

Gene Ontology (GO) - Biological Process for COA7 Gene

None

No data available for SIGNOR curated interactions for COA7 Gene

Drugs & Compounds for COA7 Gene

No Compound Related Data Available

Transcripts for COA7 Gene

mRNA/cDNA for COA7 Gene

(1) REFSEQ mRNAs :
(85) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COA7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for COA7 Gene

GeneLoc Exon Structure for
COA7
ECgene alternative splicing isoforms for
COA7

Expression for COA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COA7 Gene

Protein differential expression in normal tissues from HIPED for COA7 Gene

This gene is overexpressed in Serum (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COA7 Gene



NURSA nuclear receptor signaling pathways regulating expression of COA7 Gene:

COA7

Evidence on tissue expression from TISSUES for COA7 Gene

  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with COA7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COA7 Gene

Orthologs for COA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for COA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SELRC1 34 33
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COA7 34
  • 91 (a)
OneToOne
SELRC1 33
  • 89.47 (n)
cow
(Bos Taurus)
Mammalia COA7 34
  • 90 (a)
OneToOne
SELRC1 33
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Selrc1 34
  • 90 (a)
OneToOne
Coa7 16 33
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Selrc1 33
  • 84.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COA7 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COA7 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SELRC1 34 33
  • 71.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA7 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coa7 33
  • 65.22 (n)
Str.15655 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3290 33
zebrafish
(Danio rerio)
Actinopterygii coa7 33
  • 64.04 (n)
selrc1 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13865 34 33
  • 52.1 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK20.4 34 33
  • 47.96 (n)
OneToOne
Species where no ortholog for COA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COA7 Gene

ENSEMBL:
Gene Tree for COA7 (if available)
TreeFam:
Gene Tree for COA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COA7: view image

Paralogs for COA7 Gene

No data available for Paralogs for COA7 Gene

Variants for COA7 Gene

Sequence variations from dbSNP and Humsavar for COA7 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs961876891 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 52,688,006(-) T/C coding_sequence_variant, missense_variant
rs1000003548 -- 52,693,686(-) C/T intron_variant
rs1000054882 -- 52,694,180(-) T/C/G intron_variant
rs1000241546 -- 52,687,410(-) C/G 3_prime_UTR_variant
rs1000593398 -- 52,687,826(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for COA7 Gene

Variant ID Type Subtype PubMed ID
esv2758934 CNV loss 17122850
nsv1001535 CNV gain 25217958

Variation tolerance for COA7 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.78; 83.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COA7 Gene

Human Gene Mutation Database (HGMD)
COA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA7 Gene

Disorders for COA7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COA7 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search COA7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COA7

genes like me logo Genes that share disorders with COA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COA7 Gene

Publications for COA7 Gene

  1. C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly. (PMID: 24333015) Kozjak-Pavlovic V … Rudel T (Journal of molecular biology 2014) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for COA7 Gene

Sources for COA7 Gene

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