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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C1R Gene

protein-coding GIFtS: 66
GCID: GC12M007187

complement component 1, r subcomponent

Explore 17 diseases affiliated with
C1R via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complement Component 1, R Subcomponent¹ ²
EC 3.4.21.41³ ⁸
Complement C1r Subcomponent²
Complement Component 1 Subcomponent R³
EC 3.4.21⁸

External Ids:	HGNC: 1246¹	Entrez Gene: 715²	Ensembl: ENSG00000159403⁷	OMIM: 613785⁵	UniProtKB: P00736³

Export aliases for C1R gene to outside databases

Previous GC identifers: GC12M007198 GC12M007376 GC12M007067 GC12M007057 GC12M007058 GC12M007133 GC12M007047

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: C1R_HUMAN, P00736

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

Gene Wiki entry for C1R

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009714.17 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C1R gene promoter:
NF-1/L NF-1 C/EBPbeta GATA-3 IRF-1 NF-kappaB GATA-1 GATA-2 Ik-2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1R promoter sequence

Search SABiosciences Chromatin IP Primers for C1R

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1R

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13.31

C1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1R gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M007187: view genomic region (about GC identifiers)

Start:	7,187,513 bp from pter	End:	7,245,203 bp from pter
Size:	57,691 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: C1R_HUMAN, P00736 (See protein sequence)

Recommended Name: Complement C1r subcomponent precursor

Size: 705 amino acids; 80119 Da

Subunit: 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

5 PDB 3D structures from and Proteopedia for C1R:

1APQ (3D)

1GPZ (3D)

1MD7 (3D)

1MD8 (3D)

2QY0 (3D)

Secondary accessions: A6NJQ8 Q68D77 Q8J012

Explore the universe of human proteins at neXtProt for C1R: NX_P00736

Post-translational modifications:

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF

domains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00736

4/23 DME Specific Peptides for C1R (P00736) (see all 23)

DIALLEL

GEVTSPL

VSWGIGC

TGIVSWG

C1R Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001724.3

ENSEMBL proteins:

ENSP00000438682 ENSP00000444271 ENSP00000438636 ENSP00000446356 ENSP00000439223

ENSP00000445285 ENSP00000441601 ENSP00000442946 ENSP00000444009 ENSP00000290575

ENSP00000438615

Reactome Protein details: P00736
Human Recombinant Protein Products for C1R:

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	Novus Biologicals C1R Proteins Novus Biologicals C1R Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--

C1R for ontologies About GeneDecksing

C1R Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

C1R for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR000859 CUB_dom

IPR024175 Pept_S1A_C1r/C1S/mannan-bd

IPR001314 Peptidase_S1A

IPR001881 EGF-like_Ca-bd

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry P00736

ProtoNet protein and cluster: P00736

5/6 Blocks protein families (see all 6):

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000436 Sushi domain/SCR domain/CCP module

IPB000859 CUB domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: C1R_HUMAN, P00736

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 2 CUB domains

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 peptidase S1 domain

Similarity: Contains 2 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: C1R_HUMAN, P00736

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

Catalytic activity: 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 entry for C1R:

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): EC 3.4.21.41¹ ² EC 3.4.21²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	EXP	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	12788922
GO:0008236	serine-type peptidase activity	TAS	2834284

C1R for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C1R

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		hsa-miR-140-5p hsa-miR-544 hsa-miR-377
		SwitchGear 3'UTR luciferase reporter plasmid: C1R 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1R

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cleavage of Alpha-1-Microglobulin

	Classical antibody-mediated complement activation	0.74			Initial triggering of complement	0.60
	Creation of C4 and C2 activators	0.70			Complement cascade	0.47

Classical Complement Pathway

	Classical Complement Pathway	1.00			Complement Activation, Classical Pathway	0.65
	Complement Pathway	0.75

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Immune System

Immune System

1.00

Innate Immune System

0.46

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for C1R

Immune response Classic complement pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C1R

	Classical Complement Pathway
	Complement Pathway

1 GeneGo (Thomson Reuters) Pathway for C1R

Immune response Classical complement pathway

2 BioSystems Pathways for C1R

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

5/6 Reactome Pathways for C1R (see all 6)

	Classical antibody-mediated complement activation
	Creation of C4 and C2 activators
	Complement cascade
	Immune System
	Initial triggering of complement

5 Kegg Pathways (Kegg details for C1R):

	Phagosome
	Complement and coagulation cascades
	Pertussis
	Staphylococcus aureus infection
	Systemic lupus erythematosus

C1R for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C1R

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/18 Interacting proteins for C1R (P00736^{1, 2, 3} ENSP00000290575⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C1S	P09871¹^,³, ENSP00000328173⁴	EBI-3926504,EBI-2810045 I2D: score=3 STRING: ENSP00000328173
SERPING1	P05155³, ENSP00000278407⁴	I2D: score=2 STRING: ENSP00000278407
C1QB	P02746³, ENSP00000313967⁴	I2D: score=1 STRING: ENSP00000313967
C1QA	P02745³, ENSP00000363773⁴	I2D: score=2 STRING: ENSP00000363773
CSNK2A1	P68400³, ENSP00000217244⁴	I2D: score=1 STRING: ENSP00000217244

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

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	TAS	--

C1R for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

C1R for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C1R

1 HMDB Compound for C1R About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/19 DrugBank Compounds for C1R (see all 19) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Abciximab	7E3 antibody (see all 4)	143653-53-6	target	--	17016423 17139284
Adalimumab	--	331731-18-1	target	--	17016423 17139284
Alefacept	--	222535-22-0	target	--	17139284 17016423
Alemtuzumab	--	216503-57-0	target	--	17016423 17139284
Basiliximab	chimeric mouse-human antiCD25 (see all 2)	152923-56-3	target	--	17016423 17139284
Bevacizumab	antiVEGF (see all 3)	216974-75-3	target	--	17139284 17016423
Cetuximab	Anti EGFR (see all 2)	205923-56-4	target	--	17139284 17016423
Daclizumab	Anti-IL-2 (see all 3)	152923-56-3	target	--	17139284 17016423
Efalizumab	anti alphaL integrin (see all 4)	214745-43-4	target	--	17139284 17016423
Etanercept	CD120b (see all 7)	185243-69-0	target	--	17139284 17016423

2 Novoseek chemical compound relationships for C1R gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
serine	66.7	27	8676886 (3), 8042996 (2), 9777414 (2), 10408360 (1) (see all 20)
calcium	0	4	8172567 (1), 10878362 (1), 8042996 (1), 12788922 (1)

Search CenterWatch for drugs/clinical trials and news about C1R

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C1R gene:

NM_001733.4

Unigene Cluster for C1R:

Complement component 1, r subcomponent

Hs.524224 [show with all ESTs]

Unigene Representative Sequence: AK094009

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000540394(uc021quh.1) ENST00000542220(uc010sfy.2) ENST00000458061

ENST00000536053 ENST00000535233(uc010sga.1) ENST00000543362 ENST00000540610

ENST00000543835 ENST00000541042 ENST00000543851 ENST00000540242 ENST00000538050

ENST00000545466 ENST00000536092 ENST00000290575(uc010sfz.1) ENST00000542285

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1R

Additional cDNA sequence:

AK094009.1 AK222481.1 AK222491.1 AK291313.1 AK298445.1 AK303750.1 BC035220.1 M14058.1

X04701.1

21 DOTS entries:

DT.97780531 DT.95238888 DT.451885 DT.100044781 DT.100887473 DT.121109704 DT.95092977 DT.121109747

DT.418283 DT.95238882 DT.100044778 DT.121109702 DT.121109764 DT.100806567 DT.100887469 DT.121109769

DT.121109828 DT.121109941 DT.95238884 DT.100887470 DT.121109895

24/314 AceView cDNA sequences (see all 314):

CB051579 BU628167 BQ011020 BU071037 BM663150 CK819093 AA565428 BM663005

T28680 CF528735 BM972757 BM704627 BU730690 AI675723 BX336966 BF475873

BU624793 BX358507 BM984849 BM971757 W95861 CA417727 W94734 BU947629

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for C1R (see all 10) About this scheme

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:							-		-						-		-		-						-

ExUns:	9b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for C1R

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C1R expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCTGTGCTG

About this image

C1R expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C1R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1R

SOURCE GeneReport for Unigene cluster: Hs.524224

SABiosciences Custom PCR Arrays for C1R

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C1R Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1R

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1R

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C1R gene from 2/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C1R¹	complement component 1, r subcomponent	65.75(n) 62.63(a)		418295 XM_416518.3 XP_416518.2
lizard (Anolis carolinensis)	Reptilia	--	--	55(a)	1 → many	GL343218.1(93861-113879)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for C1R gene

PROZ² PAMR1² C1S² C1RL² F9² MASP1² F10² F2²

HPR² HP² PROC² F7² MASP2²

18/32 SIMAP similar genes for C1R using alignment to 11 protein entries: C1R_HUMAN (see all proteins) (see all similar genes):

DKFZp586F0824 F2 MASP1 DKFZp686O1553 C1RL PROS1

PROC1 HPR HP C1S F9 PROC

MASP2 CUBN TLL1 GPR126 DKFZp686M0562 LDLR

C1R for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: C1R_HUMAN, P00736

Polymorphism: 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)

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4883420^1,2	C,F,H	--	7246707(+)	`TCTGCG/ATTGGC`	1	--	ds500¹		26		NS EA NA WA CSA	1994
rs144863878^1,2	C	--	7246756(+)	`CATTAG/TCTCAG`	1	--	ds500¹		0	--	--	--	--
rs187079249^1,2		--	7246880(+)	`CCATAC/TGAAAT`	1	--	ds500¹		0	--	--	--	--
rs6488561^1,2	C,F,A,H	--	7246894(+)	`GCTGCG/ATTTGT`	1	--	ds500¹		8		WA NA CSA EA	367
rs151006631^1,2		--	7246981(+)	`CTCTCC/TTAAAG`	1	--	ds500¹		0	--	--	--	--
rs140900039^1,2		--	7246990(+)	`AGTAGG/TGGTAG`	1	--	ds500¹		0	--	--	--	--
rs17788936^1,2	C	--	7247013(+)	`GGATAT/AGTCTC`	1	--	ds500¹		4		NA	262

HapMap Linkage Disequilibrium report for C1R (7187513 - 7245203 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C1R: --
Human Gene Mutation Database (HGMD): C1R

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1R

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C1R for disorders           About GeneDecksing

OMIM gene information: 613785    OMIM disorders: --

17 diseases for C1R:    About MalaCards

cerebral amyloid angiopathy lupus erythematosus contact dermatitis complement deficiency

angioedema systemic lupus erythematosus alzheimer's disease urticaria

rheumatoid arthritis multiple sclerosis dermatitis purpura

pertussis cerebritis arthritis leukemia

neuronitis

3 diseases from the University of Copenhagen DISEASES database for C1R:

Urticaria Complement deficiency Systemic lupus erythematosus

3 Novoseek disease relationships for C1R gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
angioedema	40.5	1	9218620 (1)
lupus erythematosus systemic	17.1	2	9218620 (1), 7939409 (1)
alzheimers disease	10.9	1	10079271 (1)

Genatlas disease: C1R

lupus systemic-like syndrome

Genetic Association Database (GAD): C1R
Human Genome Epidemiology (HuGE) Navigator: C1R (2 documents)

Export disorders for C1R gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for C1R gene, integrated from 9 sources (see all 100):
(articles sorted by number of sources associating them with C1R)

Utopia: connect your pdf to the dynamic
world of online information

The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity. (PubMed id 12914573)^{1, 2, 9} Nakagawa M.... Umetsu K. (2003)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease. (PubMed id 12499050)^{1, 4} Rosenmann H....Abramsky O. (2003)
Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease. (PubMed id 12555245)^{1, 4} Luedecking-Zimmer E....Kamboh M.I. (2003)
Monomeric structures of the zymogen and active catalytic domain of complement protease c1r: further insights into the c1 activation mechanism. (PubMed id 12429092)^{1, 2} Budayova-Spano M.... Gaboriaud C. (2002)
The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex. (PubMed id 11823416)^{1, 2} Budayova-Spano M.... Gaboriaud C. (2002)
Solution structure of the epidermal growth factor (EGF)-like module of human complement protease C1r, an atypical member of the EGF family. (PubMed id 9477945)^{1, 2} Bersch B.... Arlaud G.J. (1998)
Identification of a cryptic protein kinase CK2 phosphorylation site in human complement protease Clr, and its use to probe intramolecular interaction. (PubMed id 8635594)^{1, 2} Pelloux S....Arlaud G.J. (1996)
A common amino acid polymorphism in complement component C1R. (PubMed id 8162045)^{1, 2} Nothen M.M. and Dewald G. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 715	HGNC: 1246	AceView: C1R	Ensembl:ENSG00000159403	euGenes: HUgn715
ECgene: C1R	Kegg: 715	H-InvDB: C1R

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for C1R	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C1R gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for C1R gene:
Search GeneIP for patents involving C1R

GeneCards and IP:
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