Format

Send to:

Choose Destination

C1R complement C1r [ Homo sapiens (human) ]

Gene ID: 715, updated on 13-Jan-2020

Summary

Official Symbol
C1Rprovided by HGNC
Official Full Name
complement C1rprovided by HGNC
Primary source
HGNC:HGNC:1246
See related
Ensembl:ENSG00000159403 MIM:613785
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
EDSPD1
Summary
This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
Expression
Broad expression in liver (RPKM 563.3), gall bladder (RPKM 285.8) and 20 other tissues See more
Orthologs

Genomic context

See C1R in Genome Data Viewer
Location:
12p13.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (7080219..7092445, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7241205..7245043, complement) , (7187513..7189412, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 655 pseudogene Neighboring gene complement C1s Neighboring gene complement C1r subcomponent like Neighboring gene C1RL antisense RNA 1 Neighboring gene RNA, U6 small nuclear 485, pseudogene

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

Potential readthrough

Included gene: C1RL

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, classical pathway TAS
Traceable Author Statement
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zymogen activation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
complement C1r subcomponent
Names
complement component 1, r subcomponent
NP_001341275.1
NP_001724.4

NCBI Reference Sequences (RefSeq)

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_062465.1 RefSeqGene

    Range
    5163..16620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354346.2NP_001341275.1  complement C1r subcomponent isoform 2 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC233309, AK298445, BC035220
    Consensus CDS
    CCDS86272.1
    Related
    ENSP00000444271.3, ENST00000536053.6
    Conserved Domains (5) summary
    smart00020
    Location:477711
    Tryp_SPc; Trypsin-like serine protease
    smart00042
    Location:41152
    CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
    pfam00431
    Location:207316
    CUB; CUB domain
    pfam00084
    Location:323385
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:175203
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_001733.7NP_001724.4  complement C1r subcomponent isoform 1 preproprotein

    Status: REVIEWED

    Source sequence(s)
    BC035220, M14058
    Consensus CDS
    CCDS81658.1
    Related
    ENSP00000497341.1, ENST00000647956.2
    Conserved Domains (5) summary
    smart00020
    Location:463697
    Tryp_SPc; Trypsin-like serine protease
    smart00042
    Location:27138
    CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
    pfam00431
    Location:193302
    CUB; CUB domain
    pfam00084
    Location:309371
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:161189
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    7080219..7092445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160008.1 Reference GRCh38.p13 PATCHES

    Range
    8674..20131 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center