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

Gene ID: 731, updated on 7-Jun-2020

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
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

Genomic context

See C8A in Genome Data Viewer
Location:
1p32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (56854796..56918223)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (57320443..57383894)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929935 Neighboring gene protein kinase AMP-activated catalytic subunit alpha 2 Neighboring gene FYN binding protein 2 Neighboring gene uncharacterized LOC105378745 Neighboring gene uncharacterized LOC112267900 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
  • 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
complement binding IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
complement activation IDA
Inferred from Direct Assay
more info
PubMed 
complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane attack complex IDA
Inferred from Direct Assay
more info
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)

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
    P07357
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    56854796..56918223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    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
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