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    C1RL complement C1r subcomponent like [ Homo sapiens (human) ]

    Gene ID: 51279, updated on 17-Jun-2019

    Summary

    Official Symbol
    C1RLprovided by HGNC
    Official Full Name
    complement C1r subcomponent likeprovided by HGNC
    Primary source
    HGNC:HGNC:21265
    See related
    Ensembl:ENSG00000139178 MIM:608974
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1RL1; C1RLP; CLSPa; C1r-LP
    Expression
    Ubiquitous expression in liver (RPKM 37.4), adrenal (RPKM 16.4) and 22 other tissues See more
    Orthologs

    Genomic context

    See C1RL in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (7094554..7109214, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7246000..7261869, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene complement C1s Neighboring gene complement C1r Neighboring gene C1RL antisense RNA 1 Neighboring gene RNA, U6 small nuclear 485, pseudogene Neighboring gene retinol binding protein 5

    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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of complement component 1, r subcomponent-like (C1RL) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: C1R

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    complement C1r subcomponent-like protein
    Names
    C1r-like protein
    C1r-like serine protease analog protein
    complement C1r-like proteinase
    complement component 1, r subcomponent-like
    NP_001284569.1
    NP_001284571.1
    NP_001284572.1
    NP_057630.2

    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.

    mRNA and Protein(s)

    1. NM_001297640.2NP_001284569.1  complement C1r subcomponent-like protein isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC233309, AK222802, DR004214, HY062376
      UniProtKB/Swiss-Prot
      Q9NZP8
      Conserved Domains (3) summary
      smart00020
      Location:205437
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:40162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:205438
      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 ...
    2. NM_001297642.2NP_001284571.1  complement C1r subcomponent-like protein isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, and uses an alternate splice site in the 5' coding region resulting in a frameshift, compared to variant 1. The encoded isoform (3) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC233309, AK314299
      Consensus CDS
      CCDS73431.1
      UniProtKB/TrEMBL
      F5GWF3
      Related
      ENSP00000441885.1, ENST00000544702.5
      Conserved Domains (1) summary
      cd00041
      Location:40162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    3. NM_001297643.2NP_001284572.1  complement C1r subcomponent-like protein isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AW450562, BC062428, HY062376
      Consensus CDS
      CCDS76517.1
      UniProtKB/TrEMBL
      F5H7C8, Q6P672
      Related
      ENSP00000442611.1, ENST00000545337.1
      Conserved Domains (1) summary
      cd00041
      Location:40162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    4. NM_016546.4NP_057630.2  complement C1r subcomponent-like protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_057630.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC233309, AK222802, HY062376
      Consensus CDS
      CCDS8573.1
      UniProtKB/Swiss-Prot
      Q9NZP8
      Related
      ENSP00000266542.4, ENST00000266542.9
      Conserved Domains (3) summary
      smart00020
      Location:247479
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:40162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:247480
      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 ...

    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.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      7094554..7109214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160008.1 Reference GRCh38.p13 PATCHES

      Range
      22240..36900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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