C8a complement component 8, alpha polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C8aprovided by MGI
Official Full Name: complement component 8, alpha polypeptideprovided by MGI
Primary source: MGI:MGI:2668347
See related: Ensembl:ENSMUSG00000035031 AllianceGenome:MGI:2668347
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes the alpha subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the alpha subunit, which associates with the beta and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the beta subunit. [provided by RefSeq, Oct 2015]
Expression: Biased expression in liver adult (RPKM 25.6), liver E18 (RPKM 22.4) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C6; 4 48.69 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (104672876..104733684, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (104815679..104876487, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables complement binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
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 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 extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of membrane attack complex	IBA Inferred from Biological aspect of Ancestor more info
part_of membrane attack complex	ISO Inferred from Sequence Orthology more info
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

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.

mRNA and Protein(s)

NM_001290645.3 → NP_001277574.1 complement component C8 alpha chain isoform 2

Status: VALIDATED

Source sequence(s)

AL627186

Consensus CDS

CCDS71433.1

UniProtKB/TrEMBL

A2A998

Related

ENSMUSP00000102420.4, ENSMUST00000106808.10

Conserved Domains (3) summary

smart00209
Location:501 → 543

TSP1; Thrombospondin type 1 repeats

smart00457
Location:245 → 448

MACPF; membrane-attack complex / perforin

cd00112
Location:52 → 86

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 ...
NM_001316667.2 → NP_001303596.1 complement component C8 alpha chain isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AL627186

Consensus CDS

CCDS84763.1

UniProtKB/TrEMBL

A2A997

Related

ENSMUSP00000047606.9, ENSMUST00000048947.15

Conserved Domains (3) summary

smart00209
Location:545 → 576

TSP1; Thrombospondin type 1 repeats

smart00457
Location:289 → 492

MACPF; membrane-attack complex / perforin

pfam00057
Location:95 → 130

Ldl_recept_a; Low-density lipoprotein receptor domain class A
NM_146148.3 → NP_666260.1 complement component C8 alpha chain isoform 1 preproprotein

See identical proteins and their annotated locations for NP_666260.1

Status: VALIDATED

Source sequence(s)

AL627186

Consensus CDS

CCDS18415.1

UniProtKB/Swiss-Prot

Q8CHJ9, Q8CHK1, Q8K182

Related

ENSMUSP00000067541.9, ENSMUST00000064873.9

Conserved Domains (3) summary

smart00209
Location:545 → 587

TSP1; Thrombospondin type 1 repeats

smart00457
Location:289 → 492

MACPF; membrane-attack complex / perforin

pfam00057
Location:95 → 130

Ldl_recept_a; Low-density lipoprotein receptor domain class A

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

104672876..104733684 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006502941.3 → XP_006503004.1 complement component C8 alpha chain isoform X1

Conserved Domains (3) summary

smart00209
Location:492 → 534

TSP1; Thrombospondin type 1 repeats

smart00457
Location:236 → 439

MACPF; membrane-attack complex / perforin

cd00112
Location:43 → 77

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 ...