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Aliases for C1R Gene

Aliases for C1R Gene

  • Complement C1r 2 3 5
  • Complement Component 1, R Subcomponent 2 3
  • EC 3.4.21.41 4 58
  • Complement Component 1 Subcomponent R 4
  • Complement C1r Subcomponent 3
  • EC 3.4.21 58
  • EDSPD1 3

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 Ehlers-Danlos Syndrome, Periodontal Type, 1 and Periodontal Ehlers-Danlos Syndrome. Among its related pathways are Complement Pathway and Staphylococcus aureus infection. 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

Additional gene information for C1R Gene

No data available for Entrez Gene Summary , CIViC 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
GH12H006923 1.7 FANTOM5 ENCODE dbSUPER 10.3 +165.5 165457 6 HDGF ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK PAF1 SP3 ZNF384 CHD4 ENSG00000219410 LRRC23 ENSG00000247853 SCARNA12 EMG1 PHB2 RPL13P5 NCAPD2
GH12H007059 1.2 Ensembl ENCODE 12 +31.8 31840 2 ELF3 FOXA2 ARID4B SIN3A RAD21 YY1 ZNF143 THAP11 MXD4 CEBPB C1R C1RL C1RL-AS1 LPCAT3 EMG1 PHB2 SCARNA12 RNU6-485P GC12P007479 PIR50287
GH12H006144 1 Ensembl ENCODE dbSUPER 4.7 +946.8 946757 2 JUN ZNF623 NR2F2 CD9 VWF PLEKHG6 C1R PIR35613 GC12P006162
GH12H006623 0.7 dbSUPER 4.3 +468.2 468196 2 BCOR SMARCA5 ATF1 ZMYM3 ATF2 ZNF316 HDAC2 IKZF1 ADNP KDM1A C1R LPAR5 LOC105369631
GH12H007089 0.9 ENCODE 0.7 +1.2 1227 3 ZNF133 ZNF76 ZNF2 RAD21 YY1 EGR1 ZNF366 ZNF143 IKZF2 ZNF654 ENSG00000256967 PEX5 CLSTN3 C1RL-AS1 ACRBP CDCA3 C1R GC12M007087
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000048390 107 201 ZNF76 ZNF2 RAD21 ZNF366 ZNF143 RUNX3 IKZF2 ZNF654 CEBPB REST

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

Selected DME Specific Peptides for C1R Gene

P00736:
  • DIALLEL
  • CQHLCHNYVGGYFCSC
  • GYGFYTKVL
  • GGGALLGDRWILTAAHT
  • DGTWHRAMPRCKIK
  • ETTTVITVP
  • DACQGDSGG
  • NHPIRRVS
  • YTCTAQGIWKNE
  • GEVTSPL
  • TCKQGYQL
  • YPPDLRCNYSIRVERGLT
  • PRCLPVCGKPVNPV
  • SPLGNPPG
  • YDYVKISADK
  • QDACQGDSGGVFAVRD
  • VSWGIGC
  • TGIVSWG
  • NFEGDIALLELENSVTLGP
  • LRFVRLPVA
  • LDEFTIIQ
  • IKCPQPK
  • IQNLQPQYQFRDYFIATCK

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 Asn125, Asn221, Asn514, and Asn581
  • Modification sites at PhosphoSitePlus

Domains & Families for C1R Gene

Gene Families for C1R Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 :
  • Belongs to the peptidase S1 family.
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

Phenotypes From GWAS Catalog 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 IEA,TAS --
GO:0005509 calcium ion binding IEA,IDA 20178990
GO:0005515 protein binding IPI 2387866
GO:0008233 peptidase activity IEA --
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

  • Applied Biological Materials Clones for C1R
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for C1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1R Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1R gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytosol 2
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 20178990
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with C1R: view

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,IEA --
GO:0030449 regulation of complement activation TAS --
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

(35) 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 65
Adalimumab Approved Pharma Target 512
Alefacept Approved, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 316
Basiliximab Approved, Investigational Pharma Target 140
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

  • Applied Biological Materials Clones for C1R
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for C1R Gene

  • Liver(4.7)
  • Skin(4.6)
  • Intestine(4.5)
  • Bone marrow(4.2)
  • Lung(2.8)
  • Blood(2.7)
  • Gall bladder(2.7)
  • Spleen(2.7)
  • Heart(2.6)
  • Lymph node(2.6)
  • Pancreas(2.6)
  • Nervous system(2.6)
  • Kidney(2.5)
  • Muscle(2.4)
  • Adrenal gland(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia C1R 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia C1R 33 34
  • 87.2 (n)
rat
(Rattus norvegicus)
Mammalia C1r 33
  • 83.97 (n)
mouse
(Mus musculus)
Mammalia C1ra 33 34
  • 83.62 (n)
C1rb 16 34
  • 72 (a)
cow
(Bos Taurus)
Mammalia -- 34
  • 78 (a)
OneToMany
C1R 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves C1R 33
  • 65.75 (n)
-- 34
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498646 33
  • 59.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
CSA.10613 34
  • 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

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_077106 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
VAR_077107 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
VAR_077108 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
VAR_077109 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]
VAR_077110 Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]

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

(12) MalaCards diseases for C1R Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, periodontal type, 1
  • ehlers-danlos syndrome, type viii
periodontal ehlers-danlos syndrome
  • ehlers-danlos syndrome, type viii
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
gingival recession
  • gingival recession nos
c1s deficiency
  • complement component c1s deficiency
- elite association - COSMIC cancer census association via MalaCards
Search C1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1R_HUMAN
  • Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. {ECO:0000269 PubMed:27745832}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

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 (Annals of human genetics 2003) 3 4 22 60
  2. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. (PMID: 27745832) Kapferer-Seebacher I … Zschocke J (American journal of human genetics 2016) 3 4 60
  3. 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 (Molecular & cellular proteomics : MCP 2010) 3 22 60
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for C1R Gene

Sources for C1R Gene

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