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Aliases for C1R Gene

Aliases for C1R Gene

  • Complement C1r 2 3 5
  • Complement Component 1, R Subcomponent 2 3
  • Complement Component 1 Subcomponent R 4
  • Complement C1r Subcomponent 3
  • EC 3.4.21.41 4
  • 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 Pediatric Systemic Lupus Erythematosus. Among its related pathways are Creation of C4 and C2 activators and Notch Signaling Pathway (sino). Gene Ontology (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

GeneHancer (GH) Regulatory Elements for C1R Gene

Promoters and enhancers for C1R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J007089 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +1.2 1227 4 ZNF133 SIN3A ZNF2 IRF4 RAD21 YY1 EGR1 ZNF366 ZNF143 ZFP91 C1R ENSG00000256967 PEX5 CLSTN3 C1RL-AS1 ACRBP CDCA3 GC12M007087 C1RL
GH12J007094 Enhancer 0.5 ENCODE 650.7 -1.6 -1563 0.2 POLR2A RXRA HLF CEBPA CEBPB CEBPG C1R C1RL-AS1 C1RL
GH12J006923 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +165.5 165456 6.8 HDGF SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 ZNF143 FOS ATN1 ZNF384 LRRC23 CHD4 ENSG00000219410 ENSG00000247853 SCARNA12 ENSG00000126749 PHB2 RPL13P5
GH12J007059 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 12 +31.8 31840 2.5 FOXA2 ARID4B SIN3A YY1 ARID2 RXRA NCOA1 MXD4 REST KAT8 GC12P007575 GC12P007576 PIR50287 PIR53702 PIR45028 PIR61112 PIR40185 GC12P007572 GC12P007567 GC12P007561
GH12J006144 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 4.7 +946.8 946757 2.1 JUN ZNF623 NR2F2 VWF CD9 PLEKHG6 C1R GC12P006162 PIR35613
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1R gene promoter:
  • GATA-3
  • GATA-2
  • GATA-1
  • C/EBPbeta
  • Ik-2
  • IRF-1
  • NF-1
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for C1R Gene

Genomic Locations for C1R Gene
chr12:7,080,209-7,092,607
(GRCh38/hg38)
Size:
12,399 bases
Orientation:
Minus strand
chr12:7,187,513-7,245,203
(GRCh37/hg19)
Size:
57,691 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 posLast=581581, posLast=514514, posLast=221221, and Asn125
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • C1R_HUMAN (713)

No data available for DME Specific Peptides for C1R Gene

Domains & Families for C1R Gene

Gene Families for C1R Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • 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

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.
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).
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@

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
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

Clone Products

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 (1)
  • Nucleoplasm (1)
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 HDA 23533145
GO:0072562 blood microparticle HDA 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 IEA,TAS --
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
calcium Approved Nutra 0
Abciximab Approved Pharma Target 65
Adalimumab Approved Pharma Target 521
Alefacept Approved, Investigational, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 319
genes like me logo Genes that share compounds with C1R: view

Transcripts for C1R Gene

mRNA/cDNA for C1R Gene

Unigene Clusters for C1R Gene

Complement component 1, r subcomponent:
Representative Sequences:

Clone 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 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)
  • Spleen(2.8)
  • Blood(2.7)
  • Gall bladder(2.7)
  • Heart(2.6)
  • Pancreas(2.6)
  • Nervous system(2.6)
  • Kidney(2.5)
  • Lymph node(2.5)
  • Muscle(2.5)
  • 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
Regions:
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

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 34 33
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C1R 34 33
  • 87.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1r 33
  • 83.97 (n)
mouse
(Mus musculus)
Mammalia C1ra 34 33
  • 83.62 (n)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for C1R: view image

Paralogs for C1R Gene

Paralogs for C1R Gene

(33) SIMAP similar genes for C1R Gene using alignment to 13 proteins:

  • C1R_HUMAN
  • D3DUT5_HUMAN
  • F5GWL0_HUMAN
  • F5GZR1_HUMAN
  • F5H1N6_HUMAN
  • F5H1V0_HUMAN
  • F5H2D0_HUMAN
  • F5H3A3_HUMAN
  • F5H3N3_HUMAN
  • F5H6Y3_HUMAN
  • F6T9X8_HUMAN
  • H0YFH3_HUMAN
  • R4GMN6_HUMAN
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 Variation AA Info Type
rs1057515579 pathogenic, Ehlers-Danlos syndrome, type 8 7,088,856(-) A/G coding_sequence_variant, missense_variant
rs1057518643 pathogenic, Ehlers-Danlos syndrome, type 8 7,088,886(-) T/C coding_sequence_variant, missense_variant
rs1057518645 pathogenic, Ehlers-Danlos syndrome, type 8 7,086,423(-) C/A coding_sequence_variant, missense_variant
rs1057518646 pathogenic, Ehlers-Danlos syndrome, type 8 7,088,721(-) GCACTTGATGA/TGTCC coding_sequence_variant, inframe_indel
rs1057519025 pathogenic, Ehlers-Danlos syndrome, type 8 7,091,533(-) GA/AT coding_sequence_variant, missense_variant

Variation tolerance for C1R Gene

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

Additional Variant Information for C1R Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, periodontal type, 1
  • edspd1
pediatric systemic lupus erythematosus
  • sle, pediatric onset
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to c1, c4, or c2 component complement deficiency
complement component c1r/c1s deficiency
  • c1r/c1s deficiency
gingival recession
  • gingival recession, localized
- 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

Additional Disease Information for C1R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  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 58
  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 58

Products for C1R Gene

Sources for C1R Gene

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