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C1S complement C1s [ Homo sapiens (human) ]

Gene ID: 716, updated on 12-Aug-2018
Official Symbol
C1Sprovided by HGNC
Official Full Name
complement C1sprovided by HGNC
Primary source
HGNC:HGNC:1247
See related
Ensembl:ENSG00000182326 MIM:120580; Vega:OTTHUMG00000150305
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EDSPD2
Summary
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]
Expression
Broad expression in liver (RPKM 683.7), gall bladder (RPKM 363.8) and 18 other tissues See more
Orthologs
See C1S in Genome Data Viewer
Location:
12p13.31
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (7060661..7071032)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7167819..7178336)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37 pseudogene 20 Neighboring gene zinc finger protein 655 pseudogene Neighboring gene complement C1r Neighboring gene complement C1r subcomponent like Neighboring gene C1RL antisense RNA 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Classical antibody-mediated complement activation, organism-specific biosystem (from REACTOME)
    Classical antibody-mediated complement activation, organism-specific biosystemC1, the first component of complement is a complex containing three protein species, C1q, C1r, and C1s. C1q is assembled from six identical subunits each of which consists of three homologous chains ...
  • Complement Activation, organism-specific biosystem (from WikiPathways)
    Complement Activation, organism-specific biosystemThe complement system is a biochemical cascade that helps, or complements, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immune syst...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
    Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2.The classical pathway is triggered by activation of the C1-complex, which consists of hexameric molecule C1q and a tetramer comprising t...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Initial triggering of complement, organism-specific biosystem (from REACTOME)
    Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
    Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Staphylococcus aureus infection, conserved biosystem (from KEGG)
    Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ44757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, classical pathway TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
complement C1s subcomponent
Names
C1 esterase
basic proline-rich peptide IB-1
complement component 1 subcomponent s
complement component 1, s subcomponent
NP_001333779.1
NP_001725.1
NP_958850.1
XP_005253817.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011694.1 RefSeqGene

    Range
    5001..15357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_25

mRNA and Protein(s)

  1. NM_001346850.1NP_001333779.1  complement C1s subcomponent isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AM886411, BC056903, DA638990
    Consensus CDS
    CCDS86271.1
    UniProtKB/Swiss-Prot
    P09871
    UniProtKB/TrEMBL
    F8WCZ6
    Related
    ENSP00000384171.3, ENST00000402681.7
  2. NM_001734.4NP_001725.1  complement C1s subcomponent isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001725.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC056903, DA638990, J04080
    Consensus CDS
    CCDS31735.1
    UniProtKB/Swiss-Prot
    P09871
    Related
    ENSP00000354057.5, OTTHUMP00000197022, ENST00000360817.9, OTTHUMT00000317484
    Conserved Domains (6) summary
    cd00033
    Location:294355
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd00041
    Location:18129
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:438678
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00431
    Location:175287
    CUB; CUB domain
    pfam00084
    Location:359421
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:143171
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_201442.3NP_958850.1  complement C1s subcomponent isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_958850.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC056903, DA638990
    Consensus CDS
    CCDS31735.1
    UniProtKB/Swiss-Prot
    P09871
    Related
    ENSP00000328173.3, OTTHUMP00000197021, ENST00000328916.7, OTTHUMT00000317483
    Conserved Domains (6) summary
    cd00033
    Location:294355
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd00041
    Location:18129
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:438678
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00431
    Location:175287
    CUB; CUB domain
    pfam00084
    Location:359421
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:143171
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    7060661..7071032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253760.2XP_005253817.1  complement C1s subcomponent isoform X1

    See identical proteins and their annotated locations for XP_005253817.1

    UniProtKB/Swiss-Prot
    P09871
    Conserved Domains (6) summary
    cd00033
    Location:294355
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd00041
    Location:18129
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:438678
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00431
    Location:175287
    CUB; CUB domain
    pfam00084
    Location:359421
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:143171
    FXa_inhibition; Coagulation Factor Xa inhibitory site
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