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Aliases for C1QB Gene

Aliases for C1QB Gene

  • Complement Component 1, Q Subcomponent, B Chain 2 3 5
  • Complement Component 1, Q Subcomponent, Beta Polypeptide 2

External Ids for C1QB Gene

Previous GeneCards Identifiers for C1QB Gene

  • GC01P022555
  • GC01P022014
  • GC01P022125
  • GC01P022449
  • GC01P022455
  • GC01P022725
  • GC01P022852
  • GC01P022979
  • GC01P021227

Summaries for C1QB Gene

Entrez Gene Summary for C1QB Gene

  • This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008]

GeneCards Summary for C1QB Gene

C1QB (Complement Component 1, Q Subcomponent, B Chain) is a Protein Coding gene. Diseases associated with C1QB include C1q Deficiency and Immunodeficiency Due To An Early Component Of Complement Deficiency. Among its related pathways are Immune System and Creation of C4 and C2 activators. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is COL8A1.

UniProtKB/Swiss-Prot for C1QB Gene

  • C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QB Gene

Genomics for C1QB Gene

Regulatory Elements for C1QB Gene

Enhancers for C1QB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C1QB on UCSC Golden Path with GeneCards custom track

Genomic Location for C1QB Gene

Chromosome:
1
Start:
22,652,762 bp from pter
End:
22,661,552 bp from pter
Size:
8,791 bases
Orientation:
Plus strand

Genomic View for C1QB Gene

Genes around C1QB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QB Gene

Proteins for C1QB Gene

  • Protein details for C1QB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02746-C1QB_HUMAN
    Recommended name:
    Complement C1q subcomponent subunit B
    Protein Accession:
    P02746
    Secondary Accessions:
    • Q5T959
    • Q96H17

    Protein attributes for C1QB Gene

    Size:
    253 amino acids
    Molecular mass:
    26722 Da
    Quaternary structure:
    • C1 is a calcium-dependent trimolecular complex of C1q, c1r and C1s in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain.

    Three dimensional structures from OCA and Proteopedia for C1QB Gene

neXtProt entry for C1QB Gene

Proteomics data for C1QB Gene at MOPED

Post-translational modifications for C1QB Gene

  • Hydroxylated on lysine and proline residues. Hydroxylated lysine residues can be glycosylated. Human C1Q contains up to 68.3 hydroxylysine-galactosylglucose residues and up to 2.5 hydroxylysine-galactose per molecule. Total percentage hydroxylysine residues glycosylated is 86.4%.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1QB Gene

No data available for DME Specific Peptides for C1QB Gene

Domains & Families for C1QB Gene

Gene Families for C1QB Gene

Graphical View of Domain Structure for InterPro Entry

P02746

UniProtKB/Swiss-Prot:

C1QB_HUMAN :
  • Contains 1 C1q domain.
Domain:
  • Contains 1 C1q domain.
  • Contains 2 collagen-like domains.
genes like me logo Genes that share domains with C1QB: view

Function for C1QB Gene

Molecular function for C1QB Gene

GENATLAS Biochemistry:
complement component 1,q subcomponent,beta polypeptide (2.5kb),classical pathway of C3 activation,see C1Q@
UniProtKB/Swiss-Prot Function:
C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

Gene Ontology (GO) - Molecular Function for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with C1QB: view
genes like me logo Genes that share phenotypes with C1QB: view

Human Phenotype Ontology for C1QB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for C1QB Gene

miRTarBase miRNAs that target C1QB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C1QB Gene

Localization for C1QB Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1QB Gene COMPARTMENTS Subcellular localization image for C1QB gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with C1QB: view

Pathways & Interactions for C1QB Gene

genes like me logo Genes that share pathways with C1QB: view

Gene Ontology (GO) - Biological Process for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0045087 innate immune response IEA,TAS --
genes like me logo Genes that share ontologies with C1QB: view

No data available for SIGNOR curated interactions for C1QB Gene

Drugs & Compounds for C1QB Gene

(26) Drugs for C1QB Gene - From: DrugBank, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Daclizumab Approved, Investigational Pharma Target 97,129
Abciximab Approved Pharma Target 64
Adalimumab Approved Pharma Target 451
Alefacept Approved, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 302
genes like me logo Genes that share compounds with C1QB: view

Transcripts for C1QB Gene

mRNA/cDNA for C1QB Gene

Unigene Clusters for C1QB Gene

Complement component 1, q subcomponent, B chain:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C1QB Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5
SP1:
SP2: -
SP3: -

Relevant External Links for C1QB Gene

GeneLoc Exon Structure for
C1QB
ECgene alternative splicing isoforms for
C1QB

Expression for C1QB Gene

mRNA expression in normal human tissues for C1QB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1QB Gene

This gene is overexpressed in Spleen (x14.2).

Protein differential expression in normal tissues from HIPED for C1QB Gene

This gene is overexpressed in Plasma (15.4), Serum (14.8), and Synovial fluid (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C1QB Gene



SOURCE GeneReport for Unigene cluster for C1QB Gene Hs.8986

genes like me logo Genes that share expression patterns with C1QB: view

Protein tissue co-expression partners for C1QB Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C1QB Gene

Orthologs for C1QB Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C1QB 35
  • 81.14 (n)
  • 76.32 (a)
C1QB 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1QB 35
  • 85.8 (n)
  • 86.09 (a)
C1QB 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1qb 35
  • 78.88 (n)
  • 80.08 (a)
C1qb 16
C1qb 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1QB 35
  • 98.28 (n)
  • 97.2 (a)
C1QB 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qb 35
  • 78.62 (n)
  • 78.49 (a)
oppossum
(Monodelphis domestica)
Mammalia C1QB 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1QB 35
  • 66.2 (n)
  • 60.19 (a)
C1QB 36
  • 41 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24421 35
zebrafish
(Danio rerio)
Actinopterygii c1qb 36
  • 32 (a)
OneToOne
Species with no ortholog for C1QB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QB Gene

ENSEMBL:
Gene Tree for C1QB (if available)
TreeFam:
Gene Tree for C1QB (if available)

Paralogs for C1QB Gene

genes like me logo Genes that share paralogs with C1QB: view

Variants for C1QB Gene

Sequence variations from dbSNP and Humsavar for C1QB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_008541 Complement component C1q deficiency (C1QD)
VAR_035551 A breast cancer sample
rs10580 -- 22,661,465(+) GCCCA(A/C/G)CCAAT utr-variant-3-prime
rs14340 -- 22,661,267(+) TCCTC(A/T)AGCTG reference, stop-gained
rs291981 -- 22,656,514(-) ttggt(G/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C1QB Gene

Variant ID Type Subtype PubMed ID
nsv871044 CNV Loss 21882294
esv34161 CNV Loss 18971310
esv2745230 CNV Deletion 23290073
esv2742989 CNV Deletion 23290073
esv2745241 CNV Deletion 23290073
esv2745253 CNV Deletion 23290073
esv2745264 CNV Deletion 23290073
esv1510090 CNV Deletion 17803354

Variation tolerance for C1QB Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1QB Gene

Human Gene Mutation Database (HGMD)
C1QB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QB Gene

Disorders for C1QB Gene

MalaCards: The human disease database

(5) MalaCards diseases for C1QB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c1q deficiency
  • c1qd
immunodeficiency due to an early component of complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
lupus erythematosus
  • systemic lupus erythematosus
systemic lupus erythematosus
  • lupus nephritis
unverricht-lundborg syndrome
  • unverricht - lundborg disease
- elite association - COSMIC cancer census association via MalaCards
Search C1QB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1QB_HUMAN
  • Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. {ECO:0000269 PubMed:9476130}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for C1QB Gene

glomerulonephritis,lupus systemic syndrome

Relevant External Links for C1QB

Genetic Association Database (GAD)
C1QB
Human Genome Epidemiology (HuGE) Navigator
C1QB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1QB
genes like me logo Genes that share disorders with C1QB: view

Publications for C1QB Gene

  1. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 48 67
  2. Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3. (PMID: 1537612) Sellar G.C. … Reid K.B. (Immunogenetics 1992) 2 3
  3. Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease. (PMID: 25817358) Carbutt S. … Hudson G. (Neurosci. Lett. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for C1QB Gene

Sources for C1QB Gene

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