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    C6 complement C6 [ Homo sapiens (human) ]

    Gene ID: 729, updated on 17-Jun-2019

    Summary

    Official Symbol
    C6provided by HGNC
    Official Full Name
    complement C6provided by HGNC
    Primary source
    HGNC:HGNC:1339
    See related
    Ensembl:ENSG00000039537 MIM:217050
    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
    This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
    Expression
    Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues See more
    Orthologs

    Genomic context

    Location:
    5p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (41142146..41261486, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41142248..41261588, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 161 pseudogene Neighboring gene complement C7 Neighboring gene maestro heat like repeat family member 2B Neighboring gene uncharacterized LOC105374739 Neighboring gene uncharacterized LOC102723740 Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 3 Neighboring gene uncharacterized LOC105374740

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Complement component 6 deficiency
    MedGen: C2676232 OMIM: 612446 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Complement Activation, organism-specific biosystem (from WikiPathways)
      Complement Activation, organism-specific biosystemThe complement system is a biochemical cascade that helps, or complements, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immune syst...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • 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 biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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 ...
    • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
      Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
    • 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 biosystemAfter cleavage of C5, C5b undergoes conformational changes and exposes a binding site for C6. C5b6 binds C7 resulting in the exposure of membrane binding sites and incorporation into target membranes...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    complement activation TAS
    Traceable Author Statement
    more info
    PubMed 
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cytolysis IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of activation of membrane attack complex IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    membrane attack complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    complement component C6
    Names
    complement component 6

    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_011582.1 RefSeqGene

      Range
      5001..124293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_29

    mRNA and Protein(s)

    1. NM_000065.4NP_000056.2  complement component C6 precursor

      See identical proteins and their annotated locations for NP_000056.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC008863, BJ993387, DB066614, J05064
      Consensus CDS
      CCDS3936.1
      UniProtKB/Swiss-Prot
      P13671
      Related
      ENSP00000338861.5, ENST00000337836.9
      Conserved Domains (7) 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
      smart00032
      Location:704755
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:862934
      FIMAC; factor I membrane attack complex
      smart00209
      Location:568623
      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 ...
      pfam00090
      Location:85127
      TSP_1; Thrombospondin type 1 domain
    2. NM_001115131.3NP_001108603.2  complement component C6 precursor

      See identical proteins and their annotated locations for NP_001108603.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC008863, AC091871, BC035723, BJ993387, J05064
      Consensus CDS
      CCDS3936.1
      UniProtKB/Swiss-Prot
      P13671
      Related
      ENSP00000263413.3, ENST00000263413.7
      Conserved Domains (7) 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
      smart00032
      Location:704755
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:862934
      FIMAC; factor I membrane attack complex
      smart00209
      Location:568623
      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 ...
      pfam00090
      Location:85127
      TSP_1; Thrombospondin type 1 domain

    RefSeqs of Annotated Genomes: Homo sapiens 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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      41142146..41261486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248357.3XP_005248414.1  complement component C6 isoform X5

      Conserved Domains (7) summary
      cd00033
      Location:653709
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:713764
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:871943
      FIMAC; factor I membrane attack complex
      smart00209
      Location:577632
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:322523
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:151182
      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 ...
      pfam00090
      Location:94136
      TSP_1; Thrombospondin type 1 domain
    2. XM_011514119.3XP_011512421.1  complement component C6 isoform X4

      Conserved Domains (7) summary
      cd00033
      Location:653709
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:713764
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:880952
      FIMAC; factor I membrane attack complex
      smart00209
      Location:577632
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:322523
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:151182
      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 ...
      pfam00090
      Location:94142
      TSP_1; Thrombospondin type 1 domain
    3. XM_006714496.4XP_006714559.1  complement component C6 isoform X2

      Conserved Domains (7) summary
      cd00033
      Location:672728
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:732783
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:596651
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:322523
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:151182
      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:94136
      TSP_1; Thrombospondin type 1 domain
    4. XM_011514114.3XP_011512416.1  complement component C6 isoform X1

      Conserved Domains (7) summary
      cd00033
      Location:672728
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:732783
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:899971
      FIMAC; factor I membrane attack complex
      smart00209
      Location:596651
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:322523
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:151182
      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:94136
      TSP_1; Thrombospondin type 1 domain
    5. XM_011514117.3XP_011512419.1  complement component C6 isoform X3

      See identical proteins and their annotated locations for XP_011512419.1

      Conserved Domains (7) summary
      cd00033
      Location:663719
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:723774
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:587642
      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:85127
      TSP_1; Thrombospondin type 1 domain
    6. XM_011514115.3XP_011512417.1  complement component C6 isoform X3

      See identical proteins and their annotated locations for XP_011512417.1

      Conserved Domains (7) summary
      cd00033
      Location:663719
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:723774
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:587642
      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:85127
      TSP_1; Thrombospondin type 1 domain
    7. XM_011514116.3XP_011512418.1  complement component C6 isoform X3

      See identical proteins and their annotated locations for XP_011512418.1

      Conserved Domains (7) summary
      cd00033
      Location:663719
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:723774
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:587642
      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:85127
      TSP_1; Thrombospondin type 1 domain
    8. XM_017009818.2XP_016865307.1  complement component C6 isoform X3

      Conserved Domains (7) summary
      cd00033
      Location:663719
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:723774
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:587642
      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:85127
      TSP_1; Thrombospondin type 1 domain
    9. XM_011514118.3XP_011512420.1  complement component C6 isoform X3

      See identical proteins and their annotated locations for XP_011512420.1

      Conserved Domains (7) summary
      cd00033
      Location:663719
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:723774
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:890962
      FIMAC; factor I membrane attack complex
      smart00209
      Location:587642
      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:85127
      TSP_1; Thrombospondin type 1 domain
    10. XM_017009819.2XP_016865308.1  complement component C6 isoform X6

    11. XM_011514121.3XP_011512423.1  complement component C6 isoform X7

      Conserved Domains (5) summary
      cd00033
      Location:344400
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:404455
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      smart00057
      Location:571643
      FIMAC; factor I membrane attack complex
      smart00209
      Location:268323
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:1195
      MACPF; membrane-attack complex / perforin
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