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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C1S Gene

protein-coding GIFtS: 69
GCID: GC12P007096

complement component 1, s subcomponent

Explore 54 diseases affiliated with
C1S 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, S Subcomponent¹ ²		Basic Proline-Rich Peptide IB-1²
Complement Component 1 Subcomponent S² ³		Complement C1s Subcomponent²
C1 Esterase² ³		EC 3.4.21⁸
EC 3.4.21.42³ ⁸

External Ids:	HGNC: 1247¹	Entrez Gene: 716²	Ensembl: ENSG00000182326⁷	OMIM: 120580⁵	UniProtKB: P09871³

Export aliases for C1S gene to outside databases

Previous GC identifers: GC12U990009 GC12P006975 GC12P007038 GC12P007028

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

Entrez Gene summary for C1S:

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s

associates with two other complement components C1r and C1q in order to yield the first component of the serum

complement system. Defects in this gene are the cause of selective C1s deficiency. (provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: C1S_HUMAN, P09871

Function: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the

classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4

Gene Wiki entry for C1S

(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_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C1S gene promoter:
GATA-6 MyoD FOXO1a IRF-7A Nkx2-5 FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1S promoter sequence

Search SABiosciences Chromatin IP Primers for C1S

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1S

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

C1S Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1S gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P007096: view genomic region (about GC identifiers)

Start:	7,096,351 bp from pter	End:	7,178,336 bp from pter
Size:	81,986 bases	Orientation:	plus 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: C1S_HUMAN, P09871 (See protein sequence)

Recommended Name: Complement C1s subcomponent precursor

Size: 688 amino acids; 76684 Da

Subunit: C1 is a calcium-dependent trimolecular complex of C1q, C1r and C1s in the molar ration of 1:2:2. Activated C1s

is an disulfide-linked heterodimer of a heavy chain and a light chain

2 PDB 3D structures from and Proteopedia for C1S:

1ELV (3D)

1NZI (3D)

Secondary accessions: D3DUT4 Q9UCU7 Q9UCU8 Q9UCU9 Q9UCV0 Q9UCV1 Q9UCV2 Q9UCV3 Q9UCV4 Q9UCV5 Q9UM14

Explore the universe of human proteins at neXtProt for C1S: NX_P09871

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_P09871

4/12 DME Specific Peptides for C1S (P09871) (see all 12)

DIALVRL

DPVKMGP

CQPVDCG

LYFTHLD

C1S Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001725.1 NP_958850.1

ENSEMBL proteins:

ENSP00000385035 ENSP00000328173 ENSP00000354057 ENSP00000384171 ENSP00000399892

ENSP00000406643 ENSP00000384464 ENSP00000397921 ENSP00000442298

Reactome Protein details: P09871
Human Recombinant Protein Products:

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	Novus Biologicals C1S Protein Novus Biologicals C1S Lysates
	Sino Biological Recombinant Protein for C1S
	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	--

C1S for ontologies About GeneDecksing

C1S 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

C1S for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR000859 CUB_dom

IPR024175 Pept_S1A_C1r/C1S/mannan-bd

IPR001314 Peptidase_S1A

IPR001881 EGF-like_Ca-bd

IPR009003 Trypsin-like_Pept_dom

Graphical View of Domain Structure for InterPro Entry P09871

ProtoNet protein and cluster: P09871

4 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000859 CUB domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: C1S_HUMAN, P09871

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: C1S_HUMAN, P09871

Function: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the

classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4

Catalytic activity: Cleavage of Arg- -Ala bond in complement component C4 to form C4a and C4b, and Lys(or Arg)- -Lys

bond in complement component C2 to form C2a and C2b: the 'classical' pathway C3 convertase

Enzyme regulation: Inhibited by SERPING1

Biophysicochemical properties: Kinetic parameters: KM=12.3 uM for complement component C2 (at 37 degrees Celsius);

KM=1.9 uM for complement component C4 (at 37 degrees Celsius); Note=Less efficient than MASP2 in C4 cleavage;

Genatlas biochemistry entry for C1S:

complement component 1,s subcomponent,83kDa,tetramerizing with C1r (2C1r,2C1S),activating C2 and C4 after

cleavage,classical pathway of C3 activation

Enzyme Numbers (IUBMB): EC 3.4.21.42¹ ² EC 3.4.21²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): C1S Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C1S
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for C1S

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1S

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	IDA	11527969
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	12788922
GO:0042802	identical protein binding	IPI	12788922

C1S for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for C1S:

Synthetic lethal with paclitax

Upregulation of Wnt/beta-caten

(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 - 5/8 super-pathways (see all 8) 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 C1S

Immune response Classic complement pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C1S

	Classical Complement Pathway
	Complement Pathway

1 GeneGo (Thomson Reuters) Pathway for C1S

Immune response Classical complement pathway

2 BioSystems Pathways for C1S

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

5/6 Reactome Pathways for C1S (see all 6)

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

4 Kegg Pathways (Kegg details for C1S):

	Complement and coagulation cascades
	Pertussis
	Staphylococcus aureus infection
	Systemic lupus erythematosus

C1S for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for C1S

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/17 Interacting proteins for C1S (P09871^{1, 2, 3} ENSP00000328173⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C1R	P00736¹^,³, ENSP00000290575⁴	EBI-2810045,EBI-3926504 I2D: score=3 STRING: ENSP00000290575
SERPING1	P05155³, ENSP00000278407⁴	I2D: score=4 STRING: ENSP00000278407
C1QA	P02745³, ENSP00000363773⁴	I2D: score=2 STRING: ENSP00000363773
C2	P06681³	I2D: score=1
C1S	P09871¹	EBI-2810045,EBI-2810045

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006956	complement activation	TAS	--
GO:0006958	complement activation, classical pathway	TAS	--
GO:0010001	glial cell differentiation	--	--
GO:0045087	innate immune response	TAS	--

C1S 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

C1S for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for C1S

Browse Tocris compounds for C1S

1 HMDB Compound for C1S About this table

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

10/11 DrugBank Compounds for C1S (see all 11) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2-(2-Hydroxy-1,1-Dihydroxymethyl-Ethylamino)-Ethanesulfonic Acid	--	7365-44-8	target	--	17139284 17016423
Abciximab	7E3 antibody (see all 4)	143653-53-6	target	--	17016423 17139284
Adalimumab	--	331731-18-1	target	--	17016423 17139284
Basiliximab	chimeric mouse-human antiCD25 (see all 2)	152923-56-3	target	--	17016423 17139284
Cetuximab	Anti EGFR (see all 2)	205923-56-4	target	--	17139284 17016423
Etanercept	CD120b (see all 7)	185243-69-0	target	--	17139284 17016423
Gemtuzumab ozogamicin	anti-CD33 (see all 2)	220578-59-6	target	--	17016423 17139284
Ibritumomab	Ig gamma-2A chain C region, membrane-bound form (see all 2)	174722-31-7	target	--	17016423 17139284
Muromonab	AntiCD3 (see all 2)	140608-64-6	target	--	17016423 17139284
Rituximab	AntiCD20 (see all 2)	174722-31-7	target	--	17016423 17139284

10/19 Novoseek chemical compound relationships for C1S gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
danazol	76.8	8	16533452 (2), 2108593 (1), 8964952 (1), 15168463 (1) (see all 6)
tranexamic acid	59.6	1	20123405 (1)
astacin	59.5	2	8125188 (1), 7813777 (1)
stanozolol	54.5	1	19368763 (1)
3,4-dichloroisocoumarin	51.5	1	1607651 (1)
serine	48.4	25	10878362 (2), 10408360 (1), 11714829 (1), 19477526 (1) (see all 21)
kininogen	33.8	1	7743613 (1)
fibrinogen	26.8	5	7743613 (1), 9702994 (1), 2080860 (1), 9767551 (1) (see all 5)
taurocholate	20.9	2	7622941 (1), 10360224 (1)
heparin	18.1	7	9037638 (1), 11209757 (1), 9610759 (1), 9882449 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about C1S

(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, 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 C1S gene (2 alternative transcripts):

NM_001734.3 NM_201442.2

Unigene Cluster for C1S:

Complement component 1, s subcomponent

Hs.458355 [show with all ESTs]

Unigene Representative Sequence: NM_201442

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000406697(uc001qsj.3) ENST00000328916(uc001qsk.3 uc001qsl.3 uc009zfr.3)

ENST00000360817 ENST00000402681 ENST00000489541 ENST00000541647 ENST00000543187

ENST00000488701 ENST00000423384 ENST00000413211 ENST00000403949 ENST00000443875(uc009zfs.3)

ENST00000542978 ENST00000495053 ENST00000463798 ENST00000473545 ENST00000470326

ENST00000461983

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1S

Additional cDNA sequence:

AK025309.1 AK290295.1 AM886411.1 BC056903.1 J04080.1 M18767.1

24/50 DOTS entries (see all 50):

DT.100665411 DT.100684460 DT.100049664 DT.102841603 DT.117487 DT.102841602 DT.95349462 DT.102841611

DT.121157850 DT.100042549 DT.121157252 DT.121157676 DT.121157532 DT.121157778 DT.121157977 DT.121157491

DT.95349455 DT.100684454 DT.121157584 DT.121157349 DT.121157925 DT.121157278 DT.121157330 DT.97762488

10 AceView cDNA sequences:

AK126711 NM_201442 AK025309 NM_001734 BC056903 AK055183 X06596 J04080

M18767 CR749503

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for C1S (see all 22) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c	·
SP1:									-		-		-		-		-				-																										-
SP2:									-		-		-								-																										-
SP3:																					-																										-
SP4:									-		-		-						-		-		-		-		-		-		-		-		-		-		-								-
SP5:									-		-		-		-		-				-				-		-		-																		-

ExUns:	9d	·	9e	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	·	13c	^	14a	·	14b	^	15a	·	15b	·	15c	^	16	^	17	^	18a	·	18b	·	18c
SP1:																							-												-
SP2:																							-												-
SP3:																																			-
SP4:
SP5:

ECgene alternative splicing isoforms for C1S

(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

C1S expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGAAAGAA

About this image

C1S 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: 1 LifeMap Cell

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C1S Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1S

SOURCE GeneReport for Unigene cluster: Hs.458355

SABiosciences Expression via Pathway-Focused PCR Array including C1S:

Multiple Sclerosis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C1S Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1S

(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 C1S gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C1S¹	complement component 1, s subcomponent	63.2(n) 56.3(a)		418294 NM_001030777.1 NP_001025948.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	57(a) 52(a)	1 ↔ many 1 ↔ many	GL343218.1(379067-396466) GL343218.1(79854-88584)
African clawed frog (Xenopus laevis)	Amphibia	Xl.5153²	Xenopus laevis transcribed sequence with weak similarity more	76.29(n)		CF522055.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01053484.1⁶ wu:fd46c06⁶	wu:fd46c06	34(a) 31(a)	1 ↔ many 1 ↔ many	16(34182219-34192603) 16(34163239-34166552)

ENSEMBL Gene Tree for C1S (if available)
TreeFam Gene Tree for C1S (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for C1S gene

PROZ² PAMR1² C1R² C1RL² F9² MASP1² F10² F2²

HPR² HP² PROC² F7² MASP2²

18/32 SIMAP similar genes for C1S using alignment to 7 protein entries: C1S_HUMAN (see all proteins) (see all similar genes):

DKFZp586F0824 DMBT1 CUBN MASP1 NRP1 TLL1

CSMD3 DKFZp686O1553 NRP2 CSMD1 GPR126 C1R

MASP2 PROC1 PRSS1 KLK4 PRSS45 PROC

C1S 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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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
				--	--	--		--	--
rs121909582^1,2	C,F	pathogenic	7177488(+)	`TGGTGC/TGGCTG`	4	R W	mis¹		1		NA	4550
rs188659933^1,2		--	7166032(+)	`CACTAC/TTGTAA`	2	--	us2k¹		0	--	--	--	--
rs193267468^1,2		--	7166033(+)	`ACTATC/TGTAAA`	2	--	us2k¹		0	--	--	--	--
rs147602421^1,2		--	7166117(+)	`TGACCC/TCCACC`	2	--	us2k¹		0	--	--	--	--
rs116440949^1,2	C,F,	--	7166180(+)	`CCCCAA/GCGAAT`	2	--	us2k¹		1		WA	118
rs185008938^1,2		--	7166237(+)	`AGAACA/CCTAGC`	2	--	us2k¹		0	--	--	--	--
rs142188464^1,2		--	7166306(+)	`GCTCTA/GTGTTG`	2	--	us2k¹		0	--	--	--	--
rs188670375^1,2		--	7166365(+)	`GTCTAC/TGCAGC`	2	--	us2k¹		0	--	--	--	--
rs192327870^1,2		--	7166388(+)	`CCCTTC/TGGGTG`	2	--	us2k¹		0	--	--	--	--
rs184115169^1,2		--	7166389(+)	`CCTTCA/GGGTGA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C1S (7096351 - 7178336 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C1S: --
Human Gene Mutation Database (HGMD): C1S

Locus Specific Mutation Databases (LSDB): C1S

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1S

DNA2.0 Custom Variant and Variant Library Synthesis for C1S

(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.)
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C1S for disorders About GeneDecksing

OMIM gene information: 120580 OMIM disorders: --

UniProtKB/Swiss-Prot: C1S_HUMAN, P09871

Defects in C1S are the cause of complement component C1s deficiency (C1SD) [MIM:613783]. A rare defect

resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads

to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis

20/54 diseases for C1S (see all 54): About MalaCards

capillary leak syndrome marginal zone b-cell lymphoma alpha 1-antitrypsin deficiency splenic marginal zone lymphoma

hemolytic-uremic syndrome angioedema b-cell lymphomas purpura fulminans

macroglossia non-hodgkin lymphoma food allergy acquired angioedema

autoimmune hemolytic anemia hemolytic anemia connective tissue disease speech disorder

lupus erythematosus hereditary angioedema toxic shock syndrome complement deficiency

3 diseases from the University of Copenhagen DISEASES database for C1S:

Urticaria Complement deficiency Systemic lupus erythematosus

10/46 Novoseek disease relationships for C1S gene (see all 46) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
angioedema, hereditary	97.7	147	14617586 (5), 19767078 (4), 12354812 (3), 10644276 (3) (see all 99)
angioedema	92.3	53	14617586 (3), 9267242 (3), 8823689 (2), 11051190 (2) (see all 38)
laryngeal edema	80.2	5	12767961 (2), 10761488 (1), 15643320 (1)
urticaria	66.6	8	8574434 (3), 8401339 (2), 16724632 (1), 12505453 (1) (see all 5)
capillary leak syndrome	65.8	2	14727019 (1), 15015747 (1)
edema	64.3	20	11718165 (3), 16610507 (2), 15321158 (1), 11126274 (1) (see all 17)
tongue swelling	57.9	1	17390765 (1)
airway obstruction	43	3	16610507 (1), 12767961 (1), 8133830 (1)
lymphoproliferative disorders	42.6	6	17513516 (1), 10644276 (1), 11720182 (1), 1975299 (1) (see all 6)
macroglossia	33.8	1	12635405 (1)

Genatlas disease: C1S

lupus systemic-like syndrome

Human Genome Epidemiology (HuGE) Navigator: C1S (6 documents)

Export disorders for C1S 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)
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PubMed articles for C1S gene, integrated from 9 sources (see all 334):
(articles sorted by number of sources associating them with C1S)

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

X-ray structure of the Ca2+-binding interaction domain of C1s. Insights into the assembly of the C1 complex of complement. (PubMed id 12788922)^{1, 2, 9} Gregory L.A....Gaboriaud C. (2003)
Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. (PubMed id 11390518)^{1, 2, 9} Dragon-Durey M.-A.... Fridman W.-H. (2001)
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)
Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2. (PubMed id 11527969)^{1, 2} Rossi V....Arlaud G.J. (2001)
Crystal structure of the catalytic domain of human complement c1s: a serine protease with a handle. (PubMed id 10775260)^{1, 2} Gaboriaud C.... Fontecilla-Camps J.-C. (2000)
Two lineages of mannose-binding lectin-associated serine protease (MASP) in vertebrates. (PubMed id 9794427)^{1, 2} Endo Y.... Fujita T. (1998)
Structure of the catalytic region of human complement protease C1s: study by chemical cross-linking and three-dimensional homology modeling. (PubMed id 7779774)^{1, 2} Rossi V.... Arlaud G.J. (1995)
Identification of the disulfide bonds of human complement C1s. (PubMed id 2007122)^{1, 2} Hess D.... Rickli E.E. (1991)
Effect of lactoperoxidase-catalyzed iodination on the Ca(2+)- dependent interactions of human C1s. Location of the iodination sites. (PubMed id 1854725)^{1, 2} Illy C.... Arlaud G.J. (1991)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 716	HGNC: 1247	AceView: C1S	Ensembl:ENSG00000182326	euGenes: HUgn716
ECgene: C1S	Kegg: 716	H-InvDB: C1S

(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)
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Name	Description
PharmGKB entry for C1S	Pharmacogenomics, SNPs, Pathways
C1Sbase	http://bioinf.uta.fi/C1Sbase/

Intellectual Property for C1S 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 C1S gene:
Search GeneIP for patents involving C1S

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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complement component 1, s subcomponent

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