Free for academic non-profit institutions. Other users need a Commercial license

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.

UniProtKB/Swiss-Prot for COA7 Gene

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

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

Regulatory Elements for COA7 Gene

Enhancers for COA7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G052702 1.4 Ensembl ENCODE 9.9 -5.0 -4989 1.7 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZYG11B COA7 NDUFS5P3
GH01G052697 1.1 ENCODE 10.4 +0.2 217 2.2 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000272100 ZCCHC11 COA7 ZYG11B GC01P052696
GH01G052707 1 Ensembl ENCODE 9.2 -9.8 -9803 2.6 ELF3 DRAP1 CTCF SAP130 MAX RAD21 YY1 TEAD3 ZNF316 POLR2A ZYG11B COA7 SCP2 NDUFS5P3
GH01G052926 1 ENCODE 7.4 -229.2 -229153 1.8 MLX AGO1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 ZNF207 ECHDC2 ZYG11A COA7 SLC1A7 SCP2 MIR1273F
GH01G052674 1 ENCODE 6.4 +21.2 21198 5.7 HDGF PKNOX1 ATF1 YY1 TCF12 GATA2 FOS JUNB NCOA1 REST GPX7 ZCCHC11 ZYG11B COA7 SCP2 FAM159A PIR34624 GC01P052685
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COA7 on UCSC Golden Path with GeneCards custom track

Promoters for COA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006423 366 1601 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for COA7 Gene

Chromosome:
1
Start:
52,684,451 bp from pter
End:
52,698,366 bp from pter
Size:
13,916 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

Protein Domains for COA7 Gene

InterPro:
ProtoNet:

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

Animal Model Products

miRNA for COA7 Gene

miRTarBase miRNAs that target COA7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

Gene Ontology (GO) - Cellular Components for COA7 Gene

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

Pathways & Interactions for COA7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COA7 Gene

None

No data available for Pathways by source and 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

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia COA7 35
  • 91 (a)
OneToOne
SELRC1 34
  • 89.47 (n)
cow
(Bos Taurus)
Mammalia COA7 35
  • 90 (a)
OneToOne
SELRC1 34
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Selrc1 35
  • 90 (a)
OneToOne
Coa7 34 16
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Selrc1 34
  • 84.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COA7 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COA7 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SELRC1 34 35
  • 71.01 (n)
lizard
(Anolis carolinensis)
Reptilia COA7 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coa7 34
  • 65.22 (n)
Str.15655 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3290 34
zebrafish
(Danio rerio)
Actinopterygii coa7 34
  • 64.04 (n)
selrc1 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13865 34 35
  • 52.1 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK20.4 34 35
  • 47.96 (n)
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)

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 Sequence Context AA Info Type
rs1000003548 -- 52,693,686(+) AGGAA(C/T)ATGAA intron-variant
rs1000054882 -- 52,694,180(+) GATGG(C/G/T)TGGTT intron-variant
rs1000241546 -- 52,687,410(+) TTTTT(C/G)ACAGA utr-variant-3-prime
rs1000593398 -- 52,687,826(+) CATCC(C/T)CCAGC reference, missense
rs1000981086 -- 52,689,195(+) GTGTC(A/G)CCCAG intron-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)

Relevant External Links for COA7 Gene

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

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

Disorders for COA7 Gene

Relevant External Links for COA7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COA7

No disorders were found for COA7 Gene.

No data available for MalaCards , 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. (J. Mol. Biol. 2014) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. (PMID: 27683825) Martinez Lyons A. … Zeviani M. (J. Med. Genet. 2016) 3 64

Products for COA7 Gene

Sources for COA7 Gene

Content
Loading form....