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FLASH GENE
Symbol C6 contributors: - updated : 15-01-2007
HGNC name complement component 6
HGNC id 1339
Corresponding disease
C6 complement component 6 deficiency
Location 5p13      Physical location : 41.142.335 - 41.261.540
Synonym name complement component 6, beta-2 globulin 5.2S
DNA
TYPE functioning gene
SPECIAL FEATURE opposite orientation, tail to tail
text tail to tail with C7
STRUCTURE 71.00 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
FLJ39155 5p13.2 hypothetical protein FLJ39155 LIFR 5p13-p12 leukemia inhibitory factor receptor LOC253254 5p13.2 hypothetical LOC253254 OSMR 5p13.2 oncostatin M receptor KIAA1999 MGC39830 5p13.2 hypothetical protein MGC39830 FYB 5p13.1 FYN binding protein (FYB-120/130) C9 5p13 complement component 9 DAB2 5p13-p12.1 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) LOC285634 5p13.2 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26; RNA helicase HDB; deleted in cancer 1; RNA helicase HDB/DICE1; DEAD box protein LOC389285 5 LOC389285 PTGER4 5p13.1 prostaglandin E receptor 4 (subtype EP4) OSRF 5p15.2-p12 osmosis responsive factor PRKAA1 5p14-p11 protein kinase, AMP-activated, alpha 1 catalytic subunit LOC389286 5 similar to FKSG62 RPL37 5p13-p12 ribosomal protein L37 CARD6 5p12 caspase recruitment domain family, member 6 C7 5p13 complement component 7 FLJ40243 5p13.1 hypothetical protein FLJ40243 C6 5p13 complement component 6 LOC345557 5p13.1 similar to RIKEN cDNA B130016O10 gene TCP1L2 5pter-p15.32 t-complex 1-like 2 OXCT 5p13 3-oxoacid CoA transferase LOC285636 5p13.1 hypothetical protein LOC285636 FBXO4 5p12 F-box only protein 4 LOC391779 5 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) GHR 5p13.1-p12 growth hormone receptor LOC389287 5 similar to synaptonemal complex protein SYP-1, SYnaPsis in meiosis abnormal SYP-1 (56.6 kD) (syp-1) SEPP1 5q31 selenoprotein P, plasma, 1 LOC391780 5 similar to peptidyl-Pro cis trans isomerase LOC340065 5p13.1 hypothetical LOC340065 LOC389288 5 LOC389288 LOC389289 5 similar to annexin II receptor LOC153684 5p13.1 hypothetical protein LOC153684 FLJ90723 5p13.1 hypothetical protein FLJ90723 FLJ10246 5p13.1 hypothetical protein FLJ10246 MGC42105 5p13.1 hypothetical protein MGC42105 HMGCS1 5p14-p13 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) CCL28 5p12 chemokine (C-C motif) ligand 28 FLJ21657 5p12 hypothetical protein FLJ21657 FLJ32363 5p12 FLJ32363 protein PAIP1 5q31.1-q31.3 Homo sapiens polyadenylate binding protein-interacting protein 1 (PAIP1), transcript variant 3, mRNA. NNT 5p13.1-cen nicotinamide nucleotide transhydrogenase
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   specific
 pancreas exocrine   highly
Respiratorylung   highly
Urinarykidney   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • short consensus repeats (Sushi (CCP/SCR) domains)
  • a perforin domain
  • three thrombospondin type I (TSP type-1) domains (see F13B, SRCP1)
  • an EGF-like domain
  • a LDL-receptor class A domain
  • a MACPF domain
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine C6
    ortholog to rattus c6
    ortholog to chimpanzee c6
    Homologene
    FAMILY complement C6/C7/C8/C9 family
    CATEGORY immunity/defense , secretory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • membrane attack complex
  • basic FUNCTION
  • stabilizing C5b
  • involved in the formation of the lytic c5b-9m complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with other late components of the cascade to form the membrane attack complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C5b
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C6
    related resource C6base - Mutation registry for C6 deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS