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

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: mouse all
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Genomic context

Location:: 1p32.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (56854797..56918223)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (56733342..56796778)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (57320470..57383896)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122892 (e-PCR)
- UniSTS:135189

RH17669 (e-PCR)
- UniSTS:53038

SHGC-144179 (e-PCR)
- UniSTS:174157

C8A_1366 (e-PCR)
- UniSTS:280471

RH64775 (e-PCR)
- UniSTS:55743

D1S3432 (e-PCR)
- UniSTS:72910

SHGC-84784 (e-PCR)
- UniSTS:104159

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 more info	PubMed
located_in extracellular exosome	HDA more info	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

NG_012049.1 RefSeqGene

Range

5001..68452

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_139

mRNA and Protein(s)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

56854797..56918223

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A8Q3WKQ2
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