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 4
  • 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
  • Epididymis Secretory Sperm Binding Protein 3
  • Hcp Beta-Lactamase-Like Protein C1orf163 3
  • Chromosome 1 Open Reading Frame 163 2
  • SCAN3 3

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 Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 and Axonal Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 CraniofacialAtlas 510.3 +0.2 240 2.3 ZNF217 ZSCAN5C SIN3A USF1 POLR2G SP1 GTF2E2 PHF8 ZNF639 ZNF10 COA7 MAGOH ENSG00000266993 TUT4 RPS13P2 ENSG00000272100 PODN PRPF38A ZFYVE9 GPX7
GH01J052706 Promoter/Enhancer 1 EPDnew ENCODE 509.3 -9.8 -9802 2.6 ZNF217 FOXA2 ZBTB17 USF1 FOSL2 GATA3 ZNF189 RAD21 USF2 RXRA COA7 NDUFS5P3 lnc-ZYG11B-2 ZYG11B SCP2
GH01J052702 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 9.8 -4.9 -4945 1.6 ZNF217 EP300 NRF1 TCF12 USF1 POLR2G SP1 JUND ZFX ZNF639 ZYG11B COA7 NDUFS5P3
GH01J052926 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 7.4 -229.3 -229335 2.6 ZNF217 NRF1 POLR2G PHF8 ZFX ZNF10 POLR2A ZBTB11 ZBTB26 ZBTB25 ECHDC2 ENSG00000264834 SCP2 TUT4 ENSG00000272100 PRPF38A MAGOH KTI12 COA7 SLC1A7
GH01J052674 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 6.5 +21.4 21355 6 ZIC2 AFF1 REST RFX1 CUX1 CTBP1 JUN RBM25 FOXA2 HDAC3 GPX7 TUT4 ZYG11B COA7 SCP2 SHISAL2A piR-41625 RF00017-214
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COA7

Genomic Locations for COA7 Gene

Genomic Locations for COA7 Gene
chr1:52,684,449-52,698,366
(GRCh38/hg38)
Size:
13,918 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:
    • Interacts with CHCHD4/MIA40 through transient intermolecular disulfide bonds.

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:
  • Beta-lactamase hcp-like protein (SELR1_HUMAN)

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.

Gene Ontology (GO) - Molecular Function for COA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30885959
genes like me logo Genes that share ontologies with COA7: view
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Note=The import in the mitochondrion intermembrane space is mediated by CHCHD4/MIA40. {ECO:0000269 PubMed:30885959}.

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 4
extracellular 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (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:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005758 mitochondrial intermembrane space IEA,IDA 30885959
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 :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for COA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COA7 31
  • 91 (a)
OneToOne
SELRC1 30
  • 89.47 (n)
cow
(Bos Taurus)
Mammalia COA7 31
  • 90 (a)
OneToOne
SELRC1 30
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Selrc1 31
  • 90 (a)
OneToOne
Coa7 17 30
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Selrc1 30
  • 84.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COA7 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COA7 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SELRC1 31 30
  • 71.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA7 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coa7 30
  • 65.22 (n)
Str.15655 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3290 30
zebrafish
(Danio rerio)
Actinopterygii coa7 30
  • 64.04 (n)
selrc1 31
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13865 31 30
  • 52.1 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK20.4 31 30
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COA7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
717674 Likely Benign: not provided 52,692,831(-) C/T MISSENSE_VARIANT
739450 Likely Benign: not provided 52,688,086(-) T/C SYNONYMOUS_VARIANT
806136 Likely Pathogenic: not provided 52,687,842(-) G/A MISSENSE_VARIANT
806137 Likely Pathogenic: not provided 52,687,865(-) A/ATATGACCCAGG FRAMESHIFT_VARIANT
rs1197945739 Pathogenic: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 52,692,726(-) C/A SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for COA7 Gene

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

(5) MalaCards diseases for COA7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COA7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COA7_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. {ECO:0000269 PubMed:27683825, ECO:0000269 PubMed:29718187, ECO:0000269 PubMed:30885959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COA7

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

No data available for 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 54
  2. Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7. (PMID: 30885959) Mohanraj K … Chacinska A (EMBO molecular medicine 2019) 3 4 54
  3. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. (PMID: 29718187) Higuchi Y … Takashima H (Brain : a journal of neurology 2018) 3 4 54
  4. COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. (PMID: 27683825) Martinez Lyons A … Zeviani M (Journal of medical genetics 2016) 3 4 54
  5. 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 54

Products for COA7 Gene

Sources for COA7 Gene