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

Gene ID: 12274, updated on 5-Mar-2024

Summary

Official Symbol
C6provided by MGI
Official Full Name
complement component 6provided by MGI
Primary source
MGI:MGI:88233
See related
Ensembl:ENSMUSG00000022181 AllianceGenome:MGI:88233
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
Involved in positive regulation of activation of membrane attack complex and positive regulation of angiogenesis. Acts upstream of or within in utero embryonic development. Predicted to be located in extracellular space. Predicted to be part of membrane attack complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in complement component 6 deficiency. Orthologous to human C6 (complement C6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung adult (RPKM 5.0), subcutaneous fat pad adult (RPKM 4.2) and 11 other tissues See more
Orthologs
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Genomic context

Location:
15 A1; 15 1.97 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (4756550..4833527)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (4727067..4804045)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene 3-oxoacid CoA transferase 1 antisense RNA Neighboring gene 3-oxoacid CoA transferase 1 Neighboring gene STARR-seq mESC enhancer starr_37822 Neighboring gene STARR-seq mESC enhancer starr_37823 Neighboring gene STARR-seq mESC enhancer starr_37824 Neighboring gene STARR-seq mESC enhancer starr_37825 Neighboring gene STARR-seq mESC enhancer starr_37827 Neighboring gene STARR-seq mESC enhancer starr_37828 Neighboring gene phosphatidylinositol-specific phospholipase C, X domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_37829 Neighboring gene STARR-seq mESC enhancer starr_37830 Neighboring gene STARR-seq mESC enhancer starr_37831 Neighboring gene STARR-seq mESC enhancer starr_37832 Neighboring gene STARR-seq mESC enhancer starr_37833 Neighboring gene STARR-seq mESC enhancer starr_37834 Neighboring gene STARR-seq mESC enhancer starr_37835 Neighboring gene STARR-seq mESC enhancer starr_37836 Neighboring gene STARR-seq mESC enhancer starr_37837 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene maestro heat-like repeat family member 2B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (1) 
  • Endonuclease-mediated (4) 

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Component Evidence Code Pubs
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 

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)

  1. NM_016704.2NP_057913.2  complement component C6 precursor

    See identical proteins and their annotated locations for NP_057913.2

    Status: VALIDATED

    Source sequence(s)
    AA212862, AC117588, BB222000, BX515704, BY088427, BY105449, CB948485
    Consensus CDS
    CCDS37025.1
    UniProtKB/TrEMBL
    Q91X70, Q9QXT7
    Related
    ENSMUSP00000124417.2, ENSMUST00000162585.8
    Conserved Domains (5) summary
    cd00033
    Location:644700
    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:568614
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:313514
    MACPF; membrane-attack complex / perforin
    cd00112
    Location:142173
    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 ...
    cl15278
    Location:85128
    TSP_1; Thrombospondin type 1 domain

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

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    4756550..4833527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006519959.4XP_006520022.1  complement component C6 isoform X2

    Conserved Domains (4) summary
    smart00209
    Location:2679
    TSP1; Thrombospondin type 1 repeats
    cd00112
    Location:142173
    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:313429
    MACPF; MAC/Perforin domain
    cl15278
    Location:85133
    TSP_1; Thrombospondin type 1 domain
  2. XM_006519958.1XP_006520021.1  complement component C6 isoform X1

    See identical proteins and their annotated locations for XP_006520021.1

    UniProtKB/TrEMBL
    Q9QXT7
    Conserved Domains (6) summary
    cd00033
    Location:644700
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02831
    Location:641755
    PHA02831; EEV host range protein; Provisional
    smart00209
    Location:568614
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:313514
    MACPF; membrane-attack complex / perforin
    cd00112
    Location:142173
    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 ...
    cl15278
    Location:85133
    TSP_1; Thrombospondin type 1 domain
  3. XM_006519957.4XP_006520020.1  complement component C6 isoform X1

    See identical proteins and their annotated locations for XP_006520020.1

    UniProtKB/TrEMBL
    Q9QXT7
    Conserved Domains (6) summary
    cd00033
    Location:644700
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02831
    Location:641755
    PHA02831; EEV host range protein; Provisional
    smart00209
    Location:568614
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:313514
    MACPF; membrane-attack complex / perforin
    cd00112
    Location:142173
    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 ...
    cl15278
    Location:85133
    TSP_1; Thrombospondin type 1 domain