Human Gene C1R (ENST00000542285.1) from GENCODE V47lift37
  Description: complement C1r (from HGNC C1R)
Gencode Transcript: ENST00000542285.1
Gencode Gene: ENSG00000159403.11
Transcript (Including UTRs)
   Position: hg19 chr12:7,187,836-7,245,131 Size: 57,296 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr12:7,187,836-7,244,275 Size: 56,440 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:7,187,836-7,245,131)mRNA (may differ from genome)Protein (653 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H0YFH3_HUMAN
DESCRIPTION: SubName: Full=Complement C1r subcomponent;
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 peptidase S1 domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: C1R
Diseases sorted by gene-association score: ehlers-danlos syndrome, periodontal type, 1* (1331), periodontal ehlers-danlos syndrome* (768), immunodeficiency due to a classical component pathway complement deficiency* (157), gingival recession (22), c1s deficiency (13), ehlers-danlos syndrome (12), hypermobility syndrome (10), retinitis pigmentosa 43 (9), c5 deficiency (6), lupus erythematosus (6), spermatic cord torsion (5), systemic lupus erythematosus (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 598.16 RPKM in Liver
Total median expression: 6467.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.10150-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR000859 - CUB
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR009003 - Pept_cys/ser_Trypsin-like
IPR024175 - Pept_S1A_C1r/C1S/mannan-bd
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)
PF00089 - Trypsin
PF00431 - CUB domain
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF
PF14670 - Coagulation Factor Xa inhibitory site

SCOP Domains:
49854 - Spermadhesin, CUB domain
50494 - Trypsin-like serine proteases
57535 - Complement control module/SCR domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on H0YFH3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Descriptions from all associated GenBank mRNAs
  CR749540 - Homo sapiens mRNA; cDNA DKFZp686O02154 (from clone DKFZp686O02154).
AK222481 - Homo sapiens mRNA for complement component 1, r subcomponent variant, clone: adKA02375.
BC035220 - Homo sapiens complement component 1, r subcomponent, mRNA (cDNA clone MGC:24904 IMAGE:4777940), complete cds.
AK024951 - Homo sapiens cDNA: FLJ21298 fis, clone COL02040, highly similar to HSC1R Human mRNA for complement component C1r.
M14058 - Human complement C1r mRNA, complete cds.
X04701 - Human mRNA for complement component C1r.
AK094009 - Homo sapiens cDNA FLJ36690 fis, clone UTERU2008707, highly similar to COMPLEMENT C1R COMPONENT PRECURSOR (EC 3.4.21.41).
AX748409 - Sequence 1934 from Patent EP1308459.
AK298445 - Homo sapiens cDNA FLJ54471 complete cds, highly similar to Complement C1r subcomponent precursor (EC 3.4.21.41).
AK303750 - Homo sapiens cDNA FLJ54318 complete cds, highly similar to Complement C1r subcomponent precursor (EC 3.4.21.41).
AK222491 - Homo sapiens mRNA for complement component 1, r subcomponent variant, clone: adKA03485.
AK291313 - Homo sapiens cDNA FLJ75066 complete cds, highly similar to Homo sapiens complement component 1, r subcomponent (C1R), mRNA.
EU832834 - Synthetic construct Homo sapiens clone HAIB:100067863; DKFZo008G1033 complement component 1, r subcomponent protein (C1R) gene, encodes complete protein.
GQ129229 - Synthetic construct Homo sapiens clone HAIB:100068525; DKFZo004G1034 complement component 1, r subcomponent protein (C1R) gene, partial cds.
JF432122 - Synthetic construct Homo sapiens clone IMAGE:100073261 complement component 1, r subcomponent (C1R) gene, encodes complete protein.
KJ890788 - Synthetic construct Homo sapiens clone ccsbBroadEn_00182 C1R gene, encodes complete protein.
AB590488 - Synthetic construct DNA, clone: pFN21AE2060, Homo sapiens C1R gene for complement component 1, r subcomponent, without stop codon, in Flexi system.
JD328404 - Sequence 309428 from Patent EP1572962.
DL490011 - Novel nucleic acids.
CU690052 - Synthetic construct Homo sapiens gateway clone IMAGE:100018422 5' read C1R mRNA.
JD204985 - Sequence 186009 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_classicPathway - Classical Complement Pathway
h_compPathway - Complement Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AK291313, H0YFH3, uc324tse.1
UCSC ID: ENST00000542285.1
RefSeq Accession: NM_001733.7
Protein: H0YFH3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene C1R:
eds-pd (Periodontal Ehlers-Danlos Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.