C6 complement component 6 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: C6provided by MGI
Official Full Name: complement component 6provided by MGI
Primary source: MGI:88233
See related: Ensembl:ENSMUSG00000022181; Vega:OTTMUSG00000032527
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AW111623

Genomic context

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Location :: 15 A1; 15 1.97 cM

Sequence :: Chromosome: 15; NC_000081.6 (4727210..4804045)

See C6 in Epigenomics, MapViewer

Chromosome 15 - NC_000081.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

These data indicate that the C6 component of the complement system mediates antiphospholipid antibodies-thrombogenic effects
Title: C6 knock-out mice are protected from thrombophilia mediated by antiphospholipid antibodies.
Clinical disease activity in C3aR(-/-), C5aR(-/-), and C6-deficient (C6-def) mice was decreased by 52, 94, and 65%, respectively, as compared with wild-type mice.
Title: Role of C3a receptors, C5a receptors, and complement protein C6 deficiency in collagen antibody-induced arthritis in mice.

Submit: New GeneRIF Correction

Alleles

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

Spontaneous (1)

Pathways from BioSystems

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Complement Activation, Classical Pathway, organism-specific biosystem (from WikiPathways)
Complement Activation, Classical Pathway, organism-specific biosystem
Complement Activation, Classical Pathway
Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
Complement and Coagulation Cascades, organism-specific biosystem
Complement and Coagulation Cascades
Complement and coagulation cascades, organism-specific biosystem (from KEGG)
Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
Complement and coagulation cascades, conserved biosystem (from KEGG)
Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
Complement cascade, organism-specific biosystem (from REACTOME)
Complement cascade, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Prion diseases, organism-specific biosystem (from KEGG)
Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
Prion diseases, conserved biosystem (from KEGG)
Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
Systemic lupus erythematosus, conserved biosystem (from KEGG)
Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
Terminal pathway of complement, organism-specific biosystem (from REACTOME)
Terminal pathway of complement, organism-specific biosystemcomputationally inferred pathway (not manually curated)

General gene information

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Markers

C6 (e-PCR), detects polymorphism
- UniSTS:532665

AW111623 (e-PCR)
- UniSTS:180725

Homology

Homologs of the C6 gene: The C6 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
induction of apoptosis	ISO Inferred from Sequence Orthology more info
positive regulation of activation of membrane attack complex	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
positive regulation of complement activation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: complement component 6

Names: complement component 6

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_016704.2 → NP_057913.2 complement component 6 precursor

Status: VALIDATED

Source sequence(s)

AA212862, AC117588, BB222000, BX515704, BY088427, BY105449, CB948485

Consensus CDS

CCDS37025.1

UniProtKB/TrEMBL

Q91X70

Related

ENSMUSP00000124417, OTTMUSP00000043171, ENSMUST00000162585, OTTMUST00000080935

Conserved Domains (5) summary

cd00112
Location:142 – 173
Blast Score: 127

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 ...

cd00033
Location:644 – 700
Blast Score: 130

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00209
Location:568 – 614
Blast Score: 125

TSP1; Thrombospondin type 1 repeats

smart00457
Location:313 – 514
Blast Score: 434

MACPF; membrane-attack complex / perforin

cl15278
Location:85 – 127
Blast Score: 87

TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000081.6 Reference GRCm38.p1 C57BL/6J

Range

4727210..4804045

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000037.1 Alternate Mm_Celera

Range

4580241..4656631

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01119130.1	None
genomic	AAHY01119131.1	None
genomic	AAHY01119132.1 (48617..77512)	None
genomic	AC102033.9 (182099..202269)	None
genomic	AC117588.11 (108243..164907)	None
genomic	CH466581.2	EDL03393.1	mixed
mRNA	AA212862.1	None
mRNA	AF184900.1	AAF14577.1	BALB/c
mRNA	AK041057.1	BAC30803.1	C57BL/6J
mRNA	BB222000.2	None
mRNA	BC011251.1	AAH11251.1	FVB/N
mRNA	BX515704.1	None	C57BL/6J
mRNA	BY088427.1	None
mRNA	BY105449.1	None	C57BL/6J
mRNA	CB948485.1	None