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C1S complement C1s [ Homo sapiens (human) ]

Gene ID: 716, updated on 3-Dec-2024

Summary

Official Symbol
C1Sprovided by HGNC
Official Full Name
complement C1sprovided by HGNC
Primary source
HGNC:HGNC:1247
See related
Ensembl:ENSG00000182326 MIM:120580; AllianceGenome:HGNC:1247
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:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7060718..7071032)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7074188..7084511)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr12:7167609-7168110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7168111-7168610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7188509-7189008 Neighboring gene complement C1r Neighboring gene Sharpr-MPRA regulatory region 13442 Neighboring gene complement C1r subcomponent like Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:7260830-7262029 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

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
 
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
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
 

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_054229092.1

NCBI Reference Sequences (RefSeq)

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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/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
    D3DUT4, P09871, Q9UCU7, Q9UCU8, Q9UCU9, Q9UCV0, Q9UCV1, Q9UCV2, Q9UCV3, Q9UCV4, Q9UCV5, Q9UM14
    UniProtKB/TrEMBL
    A8K2N0, B3KNX0
    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
    D3DUT4, P09871, Q9UCU7, Q9UCU8, Q9UCU9, Q9UCV0, Q9UCV1, Q9UCV2, Q9UCV3, Q9UCV4, Q9UCV5, Q9UM14
    UniProtKB/TrEMBL
    A8K2N0, B3KNX0
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    7060718..7071032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    7074188..7084511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373117.1XP_054229092.1  complement C1s subcomponent isoform X1

    UniProtKB/Swiss-Prot
    D3DUT4, P09871, Q9UCU7, Q9UCU8, Q9UCU9, Q9UCV0, Q9UCV1, Q9UCV2, Q9UCV3, Q9UCV4, Q9UCV5, Q9UM14
    UniProtKB/TrEMBL
    A8K2N0, B3KNX0