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

    Gene ID: 731, updated on 2-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement binding  
    enables protein binding PubMed 
    enables protein-containing complex binding  
    Component Evidence Code Pubs
    located_in blood microparticle PubMed 
    located_in extracellular exosome PubMed 
    located_in extracellular region  
    is_active_in extracellular space  
    located_in membrane PubMed 
    part_of membrane attack complex  
    part_of membrane attack complex PubMed 
    part_of membrane attack complex PubMed 
    located_in plasma membrane PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_000562.3NP_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:551584
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:289492
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:96130
      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_017002234.2XP_016857723.1  complement component C8 alpha chain isoform X1

      UniProtKB/TrEMBL
      A0A8Q3WKQ2
    2. XM_011542079.3XP_011540381.1  complement component C8 alpha chain isoform X2

      UniProtKB/TrEMBL
      A0A8Q3WKQ2
      Related
      ENSP00000512121.1, ENST00000695723.1
      Conserved Domains (2) summary
      cd00112
      Location:96130
      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:289366
      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_054338607.1XP_054194582.1  complement component C8 alpha chain isoform X1

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

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