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Aliases for C1R Gene

Aliases for C1R Gene

  • Complement C1r 2 3
  • EC 3.4.21.41 4 61
  • Complement Component 1, R Subcomponent 2
  • Complement Component 1 Subcomponent R 4
  • Complement C1r Subcomponent 5
  • EC 3.4.21 61

External Ids for C1R Gene

Previous GeneCards Identifiers for C1R Gene

  • GC12M007198
  • GC12M007376
  • GC12M007067
  • GC12M007057
  • GC12M007058
  • GC12M007133
  • GC12M007047
  • GC12M007187

Summaries for C1R Gene

GeneCards Summary for C1R Gene

C1R (Complement C1r) is a Protein Coding gene. Diseases associated with C1R include Immunodeficiency Due To A Classical Component Pathway Complement Deficiency and C1r/C1s Deficiency, Combined. Among its related pathways are Pertussis and Immune response Lectin induced complement pathway. GO annotations related to this gene include calcium ion binding and serine-type peptidase activity. An important paralog of this gene is MASP2.

UniProtKB/Swiss-Prot for C1R Gene

  • C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.

Gene Wiki entry for C1R Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1R Gene

Genomics for C1R Gene

Regulatory Elements for C1R Gene

Enhancers for C1R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around C1R on UCSC Golden Path with GeneCards custom track

Promoters for C1R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C1R on UCSC Golden Path with GeneCards custom track

Genomic Location for C1R Gene

Chromosome:
12
Start:
7,080,209 bp from pter
End:
7,092,607 bp from pter
Size:
12,399 bases
Orientation:
Minus strand

Genomic View for C1R Gene

Genes around C1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1R Gene

Proteins for C1R Gene

  • Protein details for C1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00736-C1R_HUMAN
    Recommended name:
    Complement C1r subcomponent
    Protein Accession:
    P00736
    Secondary Accessions:
    • A6NJQ8
    • Q68D77
    • Q8J012

    Protein attributes for C1R Gene

    Size:
    705 amino acids
    Molecular mass:
    80119 Da
    Quaternary structure:
    • C1 is a calcium-dependent trimolecular complex of C1q, C1r and C1s in the molar ration of 1:2:2. C1r is a dimer of identical chains, each of which is activated by cleavage into two chains, A and B, connected by disulfide bonds.

    Three dimensional structures from OCA and Proteopedia for C1R Gene

neXtProt entry for C1R Gene

Post-translational modifications for C1R Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn 125, Asn 221, Asn 514, and Asn 581
  • Modification sites at PhosphoSitePlus

Domains & Families for C1R Gene

Gene Families for C1R Gene

Suggested Antigen Peptide Sequences for C1R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00736

UniProtKB/Swiss-Prot:

C1R_HUMAN :
  • Contains 2 CUB domains.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 2 CUB domains.
  • Contains 1 EGF-like domain.
  • Contains 1 peptidase S1 domain.
  • Contains 2 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with C1R: view

Function for C1R Gene

Molecular function for C1R Gene

GENATLAS Biochemistry:
complement component 1,r subcomponent,83kDa,tetramerizing C1s (2C1r,2C1s) possessing a proteinase activity to C1s,classical pathway of C3 activation,see C1Q@
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage of Lys(or Arg)- -Ile bond in complement subcomponent C1s to form the active form of C1s (EC 3.4.21.42).
UniProtKB/Swiss-Prot Function:
C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.

Enzyme Numbers (IUBMB) for C1R Gene

Gene Ontology (GO) - Molecular Function for C1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 2387866
GO:0008236 serine-type peptidase activity TAS 2834284
genes like me logo Genes that share ontologies with C1R: view

Phenotypes for C1R Gene

genes like me logo Genes that share phenotypes with C1R: view

Human Phenotype Ontology for C1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for C1R Gene

Localization for C1R Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1R Gene COMPARTMENTS Subcellular localization image for C1R gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
nucleus 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for C1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS,TAS --
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with C1R: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C1R Gene

Pathways & Interactions for C1R Gene

genes like me logo Genes that share pathways with C1R: view

Gene Ontology (GO) - Biological Process for C1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006955 immune response TAS 737019
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with C1R: view

No data available for SIGNOR curated interactions for C1R Gene

Drugs & Compounds for C1R Gene

(32) Drugs for C1R Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma Target 64
adalimumab Approved Pharma Target 466
Alefacept Approved, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 303
Basiliximab Approved, Investigational Pharma Target 132

(1) Additional Compounds for C1R Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
genes like me logo Genes that share compounds with C1R: view

Transcripts for C1R Gene

Unigene Clusters for C1R Gene

Complement component 1, r subcomponent:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1R Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b · 7c ^ 8 ^ 9a ·
SP1: - - - -
SP2: - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - -
SP8: -
SP9: - - - - -
SP10:

ExUns: 9b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for C1R Gene

GeneLoc Exon Structure for
C1R
ECgene alternative splicing isoforms for
C1R

Expression for C1R Gene

mRNA expression in normal human tissues for C1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1R Gene

This gene is overexpressed in Liver (x7.7).

Protein differential expression in normal tissues from HIPED for C1R Gene

This gene is overexpressed in Plasma (23.7), Serum (23.6), and Synovial fluid (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1R Gene



Protein tissue co-expression partners for C1R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C1R Gene:

C1R

SOURCE GeneReport for Unigene cluster for C1R Gene:

Hs.524224
genes like me logo Genes that share expression patterns with C1R: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C1R Gene

Orthologs for C1R Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1R Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia C1R 34
  • 87.2 (n)
  • 84.5 (a)
C1R 35
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1ra 34
  • 83.62 (n)
  • 81.25 (a)
C1rb 16
C1ra 35
  • 73 (a)
OneToMany
C1rb 35
  • 72 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia C1R 34
  • 99.57 (n)
  • 99.29 (a)
C1R 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1r 34
  • 83.97 (n)
  • 83.26 (a)
cow
(Bos Taurus)
Mammalia -- 35
  • 78 (a)
OneToMany
C1R 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves C1R 34
  • 65.75 (n)
  • 62.63 (a)
-- 35
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498646 34
  • 59.48 (n)
  • 53.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 23 (a)
ManyToMany
CSA.10613 35
  • 20 (a)
ManyToMany
Species where no ortholog for C1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C1R Gene

ENSEMBL:
Gene Tree for C1R (if available)
TreeFam:
Gene Tree for C1R (if available)

Paralogs for C1R Gene

Paralogs for C1R Gene

genes like me logo Genes that share paralogs with C1R: view

Variants for C1R Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C1R Gene

C1R_HUMAN-P00736
Complement component C1r deficiency [MIM:216950] leads to the failure of the classical complement system activation pathway (C1 deficiency). Individuals with C1 deficiency are highly susceptible to infections by microorganisms and have greater risk in developing autoimmune diseases such as systemic lupus erythematosus (SLE).

Sequence variations from dbSNP and Humsavar for C1R Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_016103 -
VAR_018667 -
VAR_018668 -
VAR_018669 -
VAR_018670 -

Variation tolerance for C1R Gene

Gene Damage Index Score: 7.67; 82.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1R Gene

Human Gene Mutation Database (HGMD)
C1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1R

No data available for Structural Variations from Database of Genomic Variants (DGV) for C1R Gene

Disorders for C1R Gene

MalaCards: The human disease database

(7) MalaCards diseases for C1R Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
c1r/c1s deficiency, combined
  • complement component c1r/c1s deficiency
c1s deficiency
  • complement component c1s deficiency
c5 deficiency
  • complement component 5 deficiency
lupus erythematosus
  • systemic lupus erythematosus
- elite association - COSMIC cancer census association via MalaCards
Search C1R in MalaCards View complete list of genes associated with diseases

Genatlas disease for C1R Gene

lupus systemic-like syndrome

Relevant External Links for C1R

Genetic Association Database (GAD)
C1R
Human Genome Epidemiology (HuGE) Navigator
C1R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1R
genes like me logo Genes that share disorders with C1R: view

No data available for UniProtKB/Swiss-Prot for C1R Gene

Publications for C1R Gene

  1. The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity. (PMID: 12914573) Nakagawa M. … Umetsu K. (Ann. Hum. Genet. 2003) 3 4 22 65
  2. Analysis of human C1q by combined bottom-up and top-down mass spectrometry: detailed mapping of post-translational modifications and insights into the C1r/C1s binding sites. (PMID: 20008834) Pflieger D. … Daniel R. (Mol. Cell Proteomics 2010) 3 22 65
  3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease. (PMID: 12499050) Rosenmann H. … Abramsky O. (Neurosci. Lett. 2003) 3 46 65

Products for C1R Gene

Sources for C1R Gene

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