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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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