Aliases for C8A Gene
Aliases for C8A Gene
External Ids for C8A Gene
- HGNC: 1352
- Entrez Gene: 731
- Ensembl: ENSG00000157131
- OMIM: 120950
- UniProtKB: P07357
Previous GeneCards Identifiers for C8A Gene
- GC01P057237
- GC01P056235
- GC01P056678
- GC01P056690
- GC01P057032
- GC01P055432
Summaries for C8A Gene
-
C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
GeneCards Summary for C8A Gene
C8A (Complement C8 Alpha Chain) is a Protein Coding gene. Diseases associated with C8A include C8 Deficiency, Type I and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Complement Pathway and Innate Immune System. GO annotations related to this gene include protein complex binding and complement binding. An important paralog of this gene is C8B.
UniProtKB/Swiss-Prot for C8A Gene
-
Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8A Gene
Genomics for C8A Gene
Regulatory Elements for C8A Gene
Enhancers for C8A 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 |
|---|---|---|---|---|---|---|---|---|
| GH01G056907 | 1.3 | FANTOM5 ENCODE | 19.2 | +55.2 | 55198 | 4.2 | FOXA2 ATF1 ARID4B DMAP1 ZNF48 YY1 TCF12 SP5 ZHX2 MXD4 | C8B C8A C1orf168 GC01P056889 LOC105378745 |
| GH01G056831 | 1.4 | FANTOM5 Ensembl ENCODE | 11 | -22.1 | -22083 | 1.9 | CTCF PKNOX1 FOXA2 JUN ZSCAN4 ZNF384 RAD21 ZNF766 ZNF143 SMC3 | C8A ENSG00000229913 GC01P056845 |
| GH01G056575 | 1.7 | FANTOM5 ENCODE dbSUPER | 8.3 | -275.7 | -275668 | 6.6 | FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF263 SP3 REST SMARCB1 | C8A C1orf168 C8B PRKAA2 PLPP3 RPL23AP85 GC01P056539 |
| GH01G057279 | 1.3 | FANTOM5 ENCODE | 4 | +426.9 | 426914 | 4.5 | FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 FOS SP5 | C8A C8B C1orf168 GC01P057293 GC01P057267 |
| GH01G057006 | 0.3 | FANTOM5 | 5 | +152.0 | 152048 | 0.1 | C1orf168 C8A C8B GC01P057000 LOC105378748 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C8A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the C8A gene promoter:
Regulatory Element Products
Genomic Location for C8A Gene
- Chromosome:
- 1
- Start:
- 56,854,770 bp from pter
- End:
- 56,918,221 bp from pter
- Size:
- 63,452 bases
- Orientation:
- Plus strand
Genomic View for C8A Gene
Genes around C8A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p32.2 by Ensembl
- 1p32.2 by Entrez Gene
- 1p32.2 by HGNC
C8A 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 C8A Gene
Proteins for C8A Gene
-
Protein details for C8A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P07357-CO8A_HUMAN
- Recommended name:
- Complement component C8 alpha chain
- Protein Accession:
- P07357
- A2RUI4
- A2RUI5
- Q13668
- Q9H130
Protein attributes for C8A Gene
- Size:
- 584 amino acids
- Molecular mass:
- 65163 Da
- Quaternary structure:
-
- Heterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b sequentially binds C6, C7, C8 and multiple copies of the pore-forming subunit C9.
Protein Expression for C8A Gene
Post-translational modifications for C8A Gene
Other Protein References for C8A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for C8A
-
Abcam antibodies for C8A
- Search GeneTex for Antibodies for C8A
-
Santa Cruz Biotechnology (SCBT) Antibodies for C8A
Protein Products
-
OriGene Purified Proteins for C8A
- Search Origene for MassSpec and Protein Over-expression Lysates for C8A
- Origene Custom Protein Services for C8A
- Novus Biologicals lysates for C8A
- Search GeneTex for Proteins for C8A
No data available for DME Specific Peptides for C8A Gene
Domains & Families for C8A Gene
Gene Families for C8A Gene
- HGNC:
Protein Domains for C8A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for C8A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P07357- Family:
-
- Belongs to the complement C6/C7/C8/C9 family.
Function for C8A Gene
Molecular function for C8A Gene
- GENATLAS Biochemistry:
- complement component 8,gamma-1 globulin,alpha polypeptide,64.8kDa, (<2.5kb, 5 from C8B),complexing with other late components of the cascade to form the membrane attack complex
- UniProtKB/Swiss-Prot Function:
- Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001848 | complement binding | IEA | -- |
| GO:0032403 | protein complex binding | IEA | -- |
Phenotypes for C8A Gene
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for C8A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C8A gene
- Search ViGene Biosciences for C8A
CRISPR Products
-
OriGene CRISPR knockouts for C8A
-
Santa Cruz Biotechnology (SCBT) CRISPR for C8A
- GenScript: Design CRISPR guide RNA sequences for C8A
miRNA for C8A Gene
- miRTarBase miRNAs that target C8A
-
- hsa-mir-335-5p (MIRT017718)
- hsa-mir-181a-5p (MIRT025047)
- hsa-mir-127-5p (MIRT446161)
- hsa-mir-1299 (MIRT446162)
- hsa-mir-613 (MIRT446163)
- hsa-mir-206 (MIRT446164)
- hsa-mir-1-3p (MIRT446165)
- hsa-mir-4635 (MIRT446166)
- hsa-mir-4522 (MIRT446167)
- hsa-mir-6128 (MIRT446168)
- hsa-mir-875-3p (MIRT446169)
- hsa-mir-518c-5p (MIRT446170)
- hsa-mir-514a-5p (MIRT446171)
- hsa-mir-4762-3p (MIRT722626)
- hsa-mir-4539 (MIRT722627)
- hsa-mir-766-3p (MIRT722628)
- hsa-mir-338-3p (MIRT722629)
- hsa-mir-4530 (MIRT722630)
- hsa-mir-3065-3p (MIRT722631)
- hsa-mir-500b-3p (MIRT722632)
- hsa-mir-6871-3p (MIRT722633)
- hsa-mir-7152-5p (MIRT722634)
- hsa-mir-3074-5p (MIRT722635)
- hsa-mir-1238-3p (MIRT722636)
- hsa-mir-670-3p (MIRT722637)
- hsa-mir-3124-3p (MIRT722638)
- hsa-mir-6756-3p (MIRT722639)
- hsa-mir-3127-3p (MIRT722640)
- hsa-mir-483-3p (MIRT722641)
miRNA Products
- Search ViGene Biosciences for C8A
Inhibitory RNA Products
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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
Cell Line Products
-
Horizon Cell Lines for C8A
-
ViGene Biosciences adenoviral particle packaged cDNA for C8A gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C8A Gene
Localization for C8A Gene
Subcellular locations from UniProtKB/Swiss-Prot for C8A Gene
- Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005579 | membrane attack complex | IDA | 12413696 |
| GO:0005615 | extracellular space | TAS | 6771072 |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | TAS | 2820471 |
Pathways & Interactions for C8A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Complement Pathway | ||
| 2 | Immune response Lectin induced complement pathway | ||
| 3 | Creation of C4 and C2 activators | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Amoebiasis | ||
Pathways by source for C8A Gene
1 BioSystems pathway for C8A Gene
5 Reactome pathways for C8A Gene
4 KEGG pathways for C8A Gene
3 GeneGo (Thomson Reuters) pathways for C8A Gene
4 Qiagen pathways for C8A Gene
Interacting Proteins for C8A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0006955 | immune response | TAS | 6771072 |
| GO:0006956 | complement activation | IDA | 12413696 |
| GO:0006957 | complement activation, alternative pathway | IEA | -- |
| GO:0006958 | complement activation, classical pathway | IEA | -- |
No data available for SIGNOR curated interactions for C8A Gene
Transcripts for C8A Gene
mRNA/cDNA for C8A Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (47) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C8A Gene
CRISPR Products
-
OriGene CRISPR knockouts for C8A
-
Santa Cruz Biotechnology (SCBT) CRISPR for C8A
- GenScript: Design CRISPR guide RNA sequences for C8A
miRNA Products
- Search ViGene Biosciences for C8A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C8A
- Browse OriGene Inhibitory RNA Products For C8A
-
ViGene Biosciences ready-to-package AAV shRNAs for C8A gene
Clone Products
- Sino Biological Human cDNA Clone for C8A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for C8A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C8A
-
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
Flow Cytometry Products
Expression for C8A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for C8A Gene
This gene is overexpressed in Liver (x52.8).
This gene is overexpressed in Serum (20.6), Plasma (17.9), and Synovial fluid (11.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C8A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of C8A Gene:
C8ASOURCE GeneReport for Unigene cluster for C8A Gene:
Hs.93210Evidence on tissue expression from TISSUES for C8A Gene
- Liver(4.6)
- Blood(4.3)
- Bone marrow(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for C8A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- head
- meninges
- mouth
- neck
- pharynx
Thorax:
- esophagus
- heart
- lung
Abdomen:
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- fallopian tube
- ovary
- prostate
- rectum
- testicle
- urethra
- vagina
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- lymph node
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for C8A
No data available for mRNA Expression by UniProt/SwissProt for C8A Gene
Orthologs for C8A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C8A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | C8A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | C8A 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | C8a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | C8a 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C8A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C8A 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C8A 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | C8A 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | c8a 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | c8a 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany |
- Species where no ortholog for C8A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- fruit fly (Drosophila melanogaster)
- 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 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)
- worm (Caenorhabditis elegans)
Paralogs for C8A Gene
Variants for C8A Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs652785 | Benign | 56,875,054(-) | TGCTT(G/T)CCTTA | reference, missense | |
| rs1000093283 | -- | 56,864,431(+) | GATAA(C/T)GGAGA | intron-variant | |
| rs1000130059 | -- | 56,902,798(+) | TCAAT(C/T)GCATT | intron-variant | |
| rs1000134929 | -- | 56,884,086(+) | AAAAA(A/T)TTTCA | intron-variant | |
| rs1000168887 | -- | 56,875,515(+) | AGTGG(G/T)TCTTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3586132 | CNV | loss | 21293372 |
| esv3586133 | CNV | loss | 21293372 |
| nsv508215 | CNV | deletion | 20534489 |
Residual Variation Intolerance Score:
88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.19;
90.42% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for C8A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8A Gene
Disorders for C8A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| c8 deficiency, type i |
|
|
| immunodeficiency due to a late component of complement deficiency |
|
|
| complement component 8 deficiency |
|
|
Search C8A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO8A_HUMAN- Complement component 8 deficiency, 1 (C8D1) [MIM:613790]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Relevant External Links for C8A
No data available for Genatlas for C8A Gene
Publications for C8A Gene
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
- Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit. (PMID: 18440555) Slade D.J. … Sodetz J.M. (J. Mol. Biol. 2008) 3 4 64
Products for C8A Gene
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- Novus Biologicals Antibodies for C8A
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- Find your target
- Search knockout validated antibodies
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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- Search ViGene Biosciences for C8A
- Santa Cruz Biotechnology (SCBT) Antibodies for C8A
- Search Santa Cruz Biotechnology (SCBT) for C8A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for C8A
- Horizon Cell Lines for C8A
- Cyagen custom Knockout/knockin (KOKI) mouse models for C8A
- VectorBuilder custom plasmid, inducible vectors for C8A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C8A
- 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
Sources for C8A 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
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