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

    Gene ID: 51279, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:21265
    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
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 37.4), adrenal (RPKM 16.4) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See C1RL in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7094554..7109214, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7107640..7122399, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7247150..7261810, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7167609-7168110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7168111-7168610 Neighboring gene complement C1s Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7188509-7189008 Neighboring gene complement C1r Neighboring gene Sharpr-MPRA regulatory region 13442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:7260830-7262029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7265863-7266364 Neighboring gene C1RL antisense RNA 1 Neighboring gene RNA, U6 small nuclear 485, pseudogene Neighboring gene retinol binding protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7283265-7283766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4199 Neighboring gene calsyntenin 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Immunological and clinicopathological characteristics of C1RL in 2120 glioma patients. Wang J, et al. BMC Cancer, 2020 Sep 29. PMID 32993564, Free PMC Article
    2. A novel human dendritic cell-derived C1r-like serine protease analog inhibits complement-mediated cytotoxicity. Lin N, et al. Biochem Biophys Res Commun, 2004 Aug 20. PMID 15358180
    3. Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein. Wicher KB, et al. Proc Natl Acad Sci U S A, 2004 Oct 5. PMID 15385675, Free PMC Article
    4. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. Cerhan JR, et al. Br J Haematol, 2009 Jun. PMID 19344414, Free PMC Article
    5. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Immunological and clinicopathological characteristics of C1RL in 2120 glioma patients.
      Title: Immunological and clinicopathological characteristics of C1RL in 2120 glioma patients.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    5. CLSPa itself possesses little protease activity, but it plays an inhibitory role in other active protease catalytic processes
      Title: A novel human dendritic cell-derived C1r-like serine protease analog inhibits complement-mediated cytotoxicity.
    6. coexpression of the proform of Hp (proHp) and C1r-LP effected cleavage of proHp in the endoplasmic reticulum
      Title: Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: C1R

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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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.

    mRNA and Protein(s)

    1. NM_001297640.2 → NP_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/TrEMBL
      Q9H804
      Conserved Domains (3) summary
      smart00020
      Location:205 → 437
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:40 → 162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:205 → 438
      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_001297642.2 → NP_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:40 → 162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    3. NM_001297643.2 → NP_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:40 → 162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    4. NM_016546.4 → NP_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
      Q53GX9, Q9NZP8
      UniProtKB/TrEMBL
      Q9H804
      Related
      ENSP00000266542.4, ENST00000266542.9
      Conserved Domains (3) summary
      smart00020
      Location:247 → 479
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:40 → 162
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:247 → 480
      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: 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
      7094554..7109214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160008.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      7107640..7122399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZP8.2 GenPept UniProtKB/Swiss-Prot:Q9NZP8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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