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    C1S complement C1s [ Homo sapiens (human) ]

    Gene ID: 716, updated on 11-Jun-2021

    Summary

    Official Symbol
    C1Sprovided by HGNC
    Official Full Name
    complement C1sprovided by HGNC
    Primary source
    HGNC:HGNC:1247
    See related
    Ensembl:ENSG00000182326 MIM:120580
    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
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    Genomic context

    See C1S in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (7060718..7071032)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7168022..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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ44757

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in complement activation TAS
    Traceable Author Statement
    more info
     
    involved_in complement activation, classical pathway TAS
    Traceable Author Statement
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001346850.2NP_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_001734.5NP_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, ENST00000360817.10
      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 ...
      pfam00084
      Location:359421
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:175287
      CUB; CUB domain
      pfam14670
      Location:143171
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. NM_201442.4NP_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, ENST00000328916.7
      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 ...
      pfam00084
      Location:359421
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:175287
      CUB; CUB domain
      pfam14670
      Location:143171
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      7060718..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 ...
      pfam00084
      Location:359421
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:175287
      CUB; CUB domain
      pfam14670
      Location:143171
      FXa_inhibition; Coagulation Factor Xa inhibitory site
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