Aliases for COA7 Gene
Aliases for COA7 Gene
External Ids for COA7 Gene
- HGNC: 25716
- Entrez Gene: 65260
- Ensembl: ENSG00000162377
- OMIM: 615623
- UniProtKB: Q96BR5
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
- Monarch Initiative
- Search for COA7 at DataMed
- Search for COA7 at HumanCyc
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
- 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
Regulatory Element Products
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:
-
- 1p32.3 by Entrez Gene
- 1p32.3 by HGNC
- 1p32.3 by Ensembl
COA7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q0P6I7
- Q9H9Z9
Protein attributes for COA7 Gene
- Size:
- 231 amino acids
- Molecular mass:
- 25709 Da
- Quaternary structure:
- No Data Available
Protein Expression for COA7 Gene
Post-translational modifications for COA7 Gene
Other Protein References for COA7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for COA7
-
Abcam antibodies for COA7
- Invitrogen Antibodies for COA7
- Search GeneTex for Antibodies for COA7
Protein Products
-
OriGene Purified Proteins for COA7
- Search Origene for MassSpec and Protein Over-expression Lysates for COA7
- Origene Custom Protein Services for COA7
- Search GeneTex for Proteins for COA7
-
Abcam proteins for COA7
Assay Products
No data available for DME Specific Peptides for COA7 Gene
Domains & Families for COA7 Gene
Gene Families for COA7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
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- Family:
-
- Belongs to the hcp beta-lactamase family.
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.
Phenotypes for COA7 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COA7
-
CRISPR Products
-
OriGene CRISPR knockouts for COA7
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- genomics-online: gRNA clones - Search results for available C1orf163 gene related products
- Applied Biological Materials CRISPR for COA7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COA7
miRNA for COA7 Gene
- miRTarBase miRNAs that target COA7
-
- hsa-mir-16-5p (MIRT031377)
- hsa-mir-615-3p (MIRT039855)
- hsa-mir-92a-3p (MIRT049077)
- hsa-mir-129-5p (MIRT783469)
- hsa-mir-147a (MIRT783848)
- hsa-mir-2113 (MIRT784207)
- hsa-mir-3672 (MIRT785123)
- hsa-mir-4328 (MIRT785768)
- hsa-mir-4455 (MIRT785913)
- hsa-mir-4524a-3p (MIRT786104)
- hsa-mir-5010-3p (MIRT786984)
- hsa-mir-574-5p (MIRT787850)
- hsa-mir-6818-5p (MIRT788929)
- hsa-mir-6864-3p (MIRT789128)
- hsa-mir-6867-5p (MIRT789189)
- hsa-mir-8055 (MIRT789661)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COA7
- Browse OriGene Inhibitory RNA Products For COA7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA7
- genomics-online: shRNA clones - Search results for available C1orf163 gene related products
Clone Products
- Sino Biological Human cDNA Clone for COA7
- VectorBuilder custom plasmid, inducible vectors for COA7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COA7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COA7
- genomics-online: cdna clones - Search results for available C1orf163 gene related products
- orf clones - Search results for available C1orf163 gene related products
- Applied Biological Materials Clones for COA7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COA7
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
- Mitochondria (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005758 | mitochondrial intermembrane space | IEA | -- |
Pathways & Interactions for COA7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
Pathways by source for COA7 Gene
1 KEGG pathway for COA7 Gene
Interacting Proteins for COA7 Gene
GPS-Prot Interaction Network for COA7
No data available for SIGNOR curated interactions for COA7 Gene
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 :
-
- ENST00000486918 908 bps (uc057gpc.1)
- ENST00000371538 4005 bps (uc001cui.3)
CRISPR Products
-
OriGene CRISPR knockouts for COA7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COA7
- genomics-online: gRNA clones - Search results for available C1orf163 gene related products
- Applied Biological Materials CRISPR for COA7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COA7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COA7
- Browse OriGene Inhibitory RNA Products For COA7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA7
- genomics-online: shRNA clones - Search results for available C1orf163 gene related products
Clone Products
- Sino Biological Human cDNA Clone for COA7
- VectorBuilder custom plasmid, inducible vectors for COA7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COA7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COA7
- genomics-online: cdna clones - Search results for available C1orf163 gene related products
- orf clones - Search results for available C1orf163 gene related products
- Applied Biological Materials Clones for COA7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | - | ||||||||||||||||||
| SP4: |
Expression 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:
COA7Evidence on tissue expression from TISSUES for COA7 Gene
- Bone marrow(4.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for COA7
-
OriGene qPCR primer pairs for COA7
- genomics-online: primer clones - Search results for available C1orf163 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SELRC1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COA7 34 |
|
OneToOne | |
| SELRC1 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | COA7 34 |
|
OneToOne | |
| SELRC1 33 |
|
||||
| mouse (Mus musculus) |
Mammalia | Selrc1 34 |
|
OneToOne | |
| Coa7 16 33 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Selrc1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COA7 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COA7 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SELRC1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COA7 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | coa7 33 |
|
||
| Str.15655 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3290 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | coa7 33 |
|
||
| selrc1 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG13865 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | ZK20.4 34 33 |
|
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
| 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758934 | CNV | loss | 17122850 |
| nsv1001535 | CNV | gain | 25217958 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA7 Gene
Disorders for COA7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex iv deficiency |
|
Search COA7 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for COA7
No data available for UniProtKB/Swiss-Prot and Genatlas for COA7 Gene
Publications for COA7 Gene
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- 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
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- OriGene qPCR primer pairs for COA7
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- Novus Biologicals
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- Abcam antibodies for COA7
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- VectorBuilder custom plasmid, inducible vectors for COA7
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for COA7
- Search GeneTex for Proteins for COA7
- Horizon Cell Lines for COA7
- genomics-online: cdna clones - Search results for available C1orf163 gene related products
- orf clones - Search results for available C1orf163 gene related products
- genomics-online: gRNA clones - Search results for available C1orf163 gene related products
- genomics-online: primer clones - Search results for available C1orf163 gene related products
- genomics-online: shRNA clones - Search results for available C1orf163 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COA7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COA7
- GeneCopoeia miRNA 3'UTR Target clone products for COA7
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Sources for COA7 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt