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    C8A complement C8 alpha chain [ Homo sapiens (human) ]

    Gene ID: 731, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C8Aprovided by HGNC
    Official Full Name
    complement C8 alpha chainprovided by HGNC
    Primary source
    HGNC:HGNC:1352
    See related
    Ensembl:ENSG00000157131 MIM:120950; AllianceGenome:HGNC:1352
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Restricted expression toward liver (RPKM 74.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See C8A in Genome Data Viewer
    Location:
    1p32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (56854797..56918223)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (56733342..56796778)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (57320470..57383896)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929935 Neighboring gene NANOG hESC enhancer GRCh37_chr1:57230284-57230838 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8694 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8756 Neighboring gene protein kinase AMP-activated catalytic subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1079 Neighboring gene Sharpr-MPRA regulatory region 9770 Neighboring gene FYN binding protein 2 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 Neighboring gene complement C8 beta chain Neighboring gene DAB adaptor protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Regional chromosomal assignment of genes encoding the alpha and beta subunits of human complement protein C8 to 1p32. Theriault A, et al. Hum Genet, 1992 Mar. PMID 1551680
    2. Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement. Matthews N, et al. Clin Exp Immunol, 1980 Jan. PMID 6771072, Free PMC Article
    3. The eighth component of human complement: molecular basis of C8A (C81) polymorphism. Zhang L, et al. Hum Genet, 1995 Sep. PMID 7649542
    4. Genomic organization of human complement protein C8 alpha and further examination of its linkage to C8 beta. Michelotti GA, et al. Hum Genet, 1995 May. PMID 7759071
    5. Expression and characterization of recombinant subunits of human complement component C8: further analysis of the function of C8 alpha and C8 gamma. Schreck SF, et al. J Immunol, 1998 Jul 1. PMID 9647238

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8alpha-gamma Deficiency in African Americans.
      Title: A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans.
    2. These data provide a detailed specification of co-occurring C8 proteoforms, including experimental evidence on N-glycosylation, C-mannosylation, and O-glycosylation.
      Title: Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches.
    3. C8 alpha and C8 beta have correspondingly similar roles in MAC-mediated lysis of erythrocytes and bacterial killing. C8 gamma is not required for complement-mediated killing of Gram-negative bacteria.
      Title: Role of the human C8 subunits in complement-mediated bacterial killing: evidence that C8 gamma is not essential.
    4. Results describe the crystal structure of the human C8 alpha MACPF domain disulfide-linked to C8 gamma (alphaMACPF-gamma) at 2.15 A resolution.
      Title: Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. C8gamma binds an indel peptide of C8alpha sequence and forms a non-covalent complex.
      Title: A disulfide linked model of the complement protein C8gamma complexed with C8alpha indel peptide.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    10. Observational study of genotype prevalence. (HuGE Navigator)
      Title: [Detecting the DNA polymorphism of human complement component C8A by PCR-SSCP analysis].
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Type I complement component 8 deficiency
    MedGen: C3151081 OMIM: 613790 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within complement activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of membrane attack complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of membrane attack complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of membrane attack complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement component C8 alpha chain
    Names
    complement component 8 alpha subunit
    complement component 8 subunit alpha
    complement component 8, alpha polypeptide

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012049.1 RefSeqGene

      Range
      5001..68452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_139

    mRNA and Protein(s)

    1. NM_000562.3 → NP_000553.1  complement component C8 alpha chain preproprotein

      See identical proteins and their annotated locations for NP_000553.1

      Status: REVIEWED

      Source sequence(s)
      AL121998, M16974
      Consensus CDS
      CCDS606.1
      UniProtKB/Swiss-Prot
      A2RUI4, A2RUI5, P07357, Q13668, Q9H130
      UniProtKB/TrEMBL
      A0A8Q3WL79
      Related
      ENSP00000354458.3, ENST00000361249.4
      Conserved Domains (3) summary
      smart00209
      Location:551 → 584
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:289 → 492
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:96 → 130
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      56854797..56918223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002234.2 → XP_016857723.1  complement component C8 alpha chain isoform X1

      UniProtKB/TrEMBL
      A0A8Q3WKQ2

    2. XM_011542079.3 → XP_011540381.1  complement component C8 alpha chain isoform X2

      UniProtKB/TrEMBL
      A0A8Q3WKQ2
      Related
      ENSP00000512121.1, ENST00000695723.1
      Conserved Domains (2) summary
      cd00112
      Location:96 → 130
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl02616
      Location:289 → 366
      MACPF; MAC/Perforin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      56733342..56796778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338607.1 → XP_054194582.1  complement component C8 alpha chain isoform X1

      UniProtKB/TrEMBL
      A0A8Q3WKQ2

    2. XM_054338608.1 → XP_054194583.1  complement component C8 alpha chain isoform X2

      UniProtKB/TrEMBL
      A0A8Q3WKQ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07357.2 GenPept UniProtKB/Swiss-Prot:P07357

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