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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1RL Gene

protein-coding   GIFtS: 52
GCID: GC12M007247

complement component 1, r subcomponent-like

 Explore 16 diseases affiliated with
C1RL via our new
 Human Malady Compendium 
Biological research products
for C1RL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Complement Component 1, R Subcomponent-Like1 2     CLSPA3 5
C1RL11 2 3     Complement C1r Subcomponent-Like Protein2
C1r-LP1 2 3     Complement C1r-Like Proteinase2
C1RLP2 3 5     EC 3.4.21.-3
CLSPa2 3     EC 3.4.218
C1r-Like Protein2 3     EC 3.4.21.418
C1r-Like Serine Protease Analog Protein2 3     

External Ids:    HGNC: 212651   Entrez Gene: 512792   Ensembl: ENSG000001391787   OMIM: 6089745   UniProtKB: Q9NZP83   

Export aliases for C1RL gene to outside databases

Previous GC identifers: GC12M007147 GC12M007138 GC12M007061


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: C1RL_HUMAN, Q9NZP8
Function: Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1RL gene promoter:
         RP58   NF-1   NF-1/L   HNF-4alpha2   IRF-1   Tal-1beta   NF-kappaB   HNF-4alpha1   NF-kappaB2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1RL promoter sequence
   Search SABiosciences Chromatin IP Primers for C1RL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1RL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

C1RL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1RL gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M007247:  view genomic region     (about GC identifiers)

Start:
7,242,183 bp from pter      End:
7,261,869 bp from pter
Size:
19,687 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: C1RL_HUMAN, Q9NZP8 (See protein sequence)
Recommended Name: Complement C1r subcomponent-like protein precursor  
Size: 487 amino acids; 53498 Da
Subcellular location: Secreted
Caution: Does not associate with the C1 complex. According to PubMed:15385675, doesn't cleave the proform of complement
C1s
Secondary accessions: Q53GX9

Explore the universe of human proteins at neXtProt for C1RL: NX_Q9NZP8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NZP8

  • 4/5 DME Specific Peptides for C1RL (Q9NZP8) (see all 5)
     TGIVSWG  VSWGIGC  CLPDNET  DIALLEL 

    C1RL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057630.2  
    ENSEMBL proteins: 
     ENSP00000444157   ENSP00000438286   ENSP00000266542   ENSP00000441885   ENSP00000439180  
     ENSP00000437398   ENSP00000438951   ENSP00000437569   ENSP00000442611  

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    Uscn Proteins for C1RL

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--


    C1RL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    C1RL for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000859 CUB_dom
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR000436 Sushi_SCR_CCP
     IPR001254 Peptidase_S1

    Graphical View of Domain Structure for InterPro Entry Q9NZP8

    ProtoNet protein and cluster: Q9NZP8

    3 Blocks protein families:
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: C1RL_HUMAN, Q9NZP8
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 CUB domain
    Similarity: Contains 1 peptidase S1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: C1RL_HUMAN, Q9NZP8
    Function: Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum
    Induction: Up-regulated in monocytes and dendritic cells (DC) undergoing maturation or activation

    Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.412 EC 3.4.21.-1

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate C1RL:
    hsa-miR-1265 hsa-miR-206 hsa-miR-518a-5p hsa-miR-613 hsa-miR-1 hsa-miR-138-2* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidC1RL 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--


    C1RL for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1RL

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C1RL (Q9NZP83 ENSP000002665424) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPP007383, ENSP000003481704I2D: score=1 STRING: ENSP00000348170
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0045087innate immune response IEA--


    C1RL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    C1RL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C1RL
    1 Novoseek chemical compound relationship for C1RL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 45.5 7 15358180 (2), 15527420 (1), 12686506 (1)

    Search CenterWatch for drugs/clinical trials and news about C1RL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C1RL gene: 
    NM_016546.2  

    Unigene Cluster for C1RL:

    Complement component 1, r subcomponent-like
    Hs.631730  [show with all ESTs]
    Unigene Representative Sequence: NM_016546
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539803 ENST00000545280 ENST00000266542(uc001qsn.3 uc009zft.3)
    ENST00000504702 ENST00000544702 ENST00000534950 ENST00000543933 ENST00000537833
    ENST00000534969 ENST00000545337(uc001qso.2) ENST00000543941 ENST00000539927


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    hsa-miR-1265 hsa-miR-206 hsa-miR-518a-5p hsa-miR-613 hsa-miR-1 hsa-miR-138-2* hsa-miR-450b-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF178985.1 AK024084.1 AK222802.1 AK314299.1 BC062428.1 

    14 DOTS entries:

    DT.452764  DT.423871  DT.100021680  DT.100788295  DT.101976484  DT.121109930  DT.99951751  DT.91690328 
    DT.95267568  DT.100044782  DT.100788292  DT.100887485  DT.121109710  DT.95228363 

    24/500 AceView cDNA sequences (see all 500):

    BP345255 CB993405 AL518685 CA952813 BU528204 BX384560 CA952612 BG057233 
    AU124933 AI302099 BP342929 AU142140 BP363825 CB151034 AA345638 AW206706 
    CB156855 AW450562 BX427483 W19114 AL701993 AU141226 AI244118 BM557941 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C1RL (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
    SP1:                    -                       -                                       
    SP2:                    -     -           -     -     -           -     -     -         
    SP3:                    -                       -     -     -                           
    SP4:                    -                                                               
    SP5:                                            -     -     -     -                     


    ECgene alternative splicing isoforms for C1RL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C1RL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATGTTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See C1RL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1RL

    SOURCE GeneReport for Unigene cluster: Hs.631730

    UniProtKB/Swiss-Prot: C1RL_HUMAN, Q9NZP8
    Tissue specificity: Highly expressed in placenta, liver, kidney, pancreas, moderately in lung, spleen, prostate, ovary,
    colon, and PBL, and weakly in heart, skeletal muscle, thymus, testis, and small intestine. Expressed in PC-3 (prostate
    adenocarcinoma) and SK-OV-3 (ovary adenocarcinoma) cells, but not in LoVo and HT-29 (colon adenocarcinoma), SMMC7721
    (hepatocellular carcinoma), CaoV-3 (ovary adenocarcinoma), HeLa (cervix epithelioid carcinoma), MCF-7 (breast
    adenocarcinoma), U-251MG (glioma) or A-549 (lung carcinoma) cells. Widely expressed in myeloid leukemia cell lines,
    including K-562 (chronic myelogenous leukemia), THP-1 (myelomonocytic leukemia), HL-60 and NB4 (promyelocytic
    leukemia), and KG-1 (acute myelogenous leukemia) cells. Expressed mainly in the liver and in serum (at protein level)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C1RL gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1rl1 , 5 complement component 1, r subcomponent-like1, 5 78.99(n)1
    75.85(a)1
      6 (59.16 cM)5
    2323711  NM_181344.51  NP_851989.31 
     1244931135 
    chicken
    (Gallus gallus)
    Aves F1NAC3_CHICK6
    Uncharacterized protein
    29(a)
    1 → many
    1(80553963-80560044)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    28(a)
    1 → many
    GL343218.1(93861-113879)


    ENSEMBL Gene Tree for C1RL (if available)
    TreeFam Gene Tree for C1RL (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1RL gene
    PROZ2  PAMR12  C1S2  C1R2  F92  MASP12  F102  F22  
    HPR2  HP2  PROC2  F72  MASP22  
    9 SIMAP similar genes for C1RL using alignment to 10 protein entries:     C1RL_HUMAN (see all proteins):
    DKFZp586F0824    C1R    F9    PROC    PROC1    C1S
    DKFZp686M0562    HP    MASP1

    C1RL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/283 NCBI SNPs in C1RL are shown (see all 283    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs64885731,2
    C,H,--7247045(+) CATCAT/AGTCTA 1 -- ds50016Minor allele frequency- A:0.09WA NA EA 364
    rs64885741,2
    C,F,H,--7247046(+) ATCAAC/GTCTAT 1 -- ds50017Minor allele frequency- G:0.10WA NA EA 366
    rs1910981381,2
    --7247126(+) AGATAC/TAGATC 1 -- ds50010--------
    rs31683791,2
    C,A,,--7247156(-) TATATG/ACCTAT 1 -- ut31 ese31Minor allele frequency- A:0.00CSA 1
    rs113439111,2
    C--7247165(+) TATAT-/ATTTTT 1 -- ut311Minor allele frequency- A:0.00NA 2
    rs755924681,2
    C,--7247165(+) ATATA-/AWTTTT 1 -- ut310--------
    rs1497184371,2
    --7247229(+) AAATAA/GAATAA 1 -- ut310--------
    rs1828899731,2
    C,--7247288(+) AAAACA/CAAACA 1 -- ut310--------
    rs777608831,2
    C,--7247342(+) GAGAAT/CTATTA 1 -- ut312Minor allele frequency- C:0.13WA 120
    rs77091,2
    C,F,H,--7247360(+) TTTGGA/CGATGG 1 -- ut3127Minor allele frequency- C:0.43MN NS EA NA WA CSA 2828

    HapMap Linkage Disequilibrium report for C1RL (7242183 - 7261869 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C1RL: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1RL
    DNA2.0 Custom Variant and Variant Library Synthesis for C1RL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    C1RL for disorders           About GeneDecksing

    OMIM gene information: 608974    OMIM disorders: --

    16 diseases for C1RL:    About MalaCards
    cll/sll    non-hodgkin lymphoma    hodgkin's lymphoma    myelomonocytic leukemia
    ovary adenocarcinoma    adenocarcinoma    myeloid leukemia    colon adenocarcinoma
    prostate adenocarcinoma    breast adenocarcinoma    hepatocellular carcinoma    lung carcinoma
    meningioma    leukemia    carcinoma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for C1RL:
    CLL/SLL
    Human Genome Epidemiology (HuGE) Navigator: C1RL (6 documents)

    Export disorders for C1RL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C1RL gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with C1RL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human dendritic cell-derived C1r-like serine protease analog inhibits complement-mediated cytotoxicity. (PubMed id 15358180)1, 2, 9 Lin N.... Cao X. (2004)
    2. Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein. (PubMed id 15385675)1, 2, 9 Wicher K.B. and Fries E. (2004)
    3. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    4. A novel human complement-related protein, C1r-like protease (C1r-LP), specifically cleaves pro-C1s. (PubMed id 15527420)2, 9 Ligoudistianou C.... Volanakis J.E. (2005)
    5. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1 Han S....Kang D. (2010)
    8. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
    9. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)
    10. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1 Cerhan J.R....Slager S.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51279 HGNC: 21265 AceView: C1RL Ensembl:ENSG00000139178 euGenes: HUgn51279
    ECgene: C1RL H-InvDB: C1RL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C1RL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C1RL gene:
    Search GeneIP for patents involving C1RL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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