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CR1L Gene

protein-coding   GIFtS: 45
GCID: GC01P207826

Complement Component (3b/4b) Receptor 1-Like

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Complement Component (3b/4b) Receptor 1-Like1 2
Complement C4b-Binding Protein CR-1-Like Protein2 3
Complement Component Receptor 1-Like Protein2

External Ids:    HGNC: 23351   Entrez Gene: 13792   Ensembl: ENSG000001977217   OMIM: 6058865   UniProtKB: Q2VPA43   

Export aliases for CR1L gene to outside databases

Previous GC identifers: GC01P206492 GC01P203528 GC01P204461 GC01P204579 GC01P204581 GC01P204206 GC01P205885 GC01P207820 GC01P178493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CR1L Gene:
CR1L (complement component (3b/4b) receptor 1-like) is a protein-coding gene. An important paralog of this gene is CSMD1.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CR1L gene promoter:
         Spz1   Sox5   MEF-2   HNF-3beta   MEF-2A   FOXO1a   aMEF-2   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CR1L


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32.1

CR1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CR1L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P207826:  view genomic region     (about GC identifiers)

Start:
207,818,458 bp from pter      End:
207,911,761 bp from pter
Size:
93,304 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CR1L_HUMAN, Q2VPA4 (See protein sequence)
Recommended Name: Complement component receptor 1-like protein precursor  
Size: 569 amino acids; 62714 Da
Subunit: Interacts with iC4 (methylamine-treated C4) but not for iC3 (methylamine-treated C3)
Secondary accessions: Q32MC9 Q8NEU7
Alternative splicing: 3 isoforms:  Q2VPA4-1   Q2VPA4-2   Q2VPA4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CR1L: NX_Q2VPA4

Explore proteomics data for CR1L at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn48, Asn437
  • Modification sites at PhosphoSitePlus

  • See CR1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_783641.1  
    ENSEMBL proteins: 
     ENSP00000421736   ENSP00000434864  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    1 InterPro protein domain:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry Q2VPA4

    ProtoNet protein and cluster: Q2VPA4

    UniProtKB/Swiss-Prot: CR1L_HUMAN, Q2VPA4
    Similarity: Belongs to the receptors of complement activation (RCA) family
    Similarity: Contains 8 Sushi (CCP/SCR) domains


    Find genes that share domains with CR1L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for CR1L:
    complement component (3b/4b) receptor 1-like (see RCA@)

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CR1L

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CR1L_HUMAN, Q2VPA4: Cytoplasm. Membrane. Secreted. Note=Predominantly found in association with the membrane
    fraction, but also located in the cytoplasm and in the supernatant
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--
    GO:0043235receptor complex IDA--

    Find genes that share ontologies with CR1L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CR1L
    Interactions:

        Search GeneGlobe Interaction Network for CR1L

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CR1L



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CR1L gene: 
    NM_175710.1  

    Unigene Cluster for CR1L:

    Complement component (3b/4b) receptor 1-like
    Hs.655194  [show with all ESTs]
    Unigene Representative Sequence: NM_175710
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531844 ENST00000508064(uc001hfz.2 uc001hga.4) ENST00000430248
    ENST00000530905 ENST00000294997(uc001hgb.1)
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    Additional mRNA sequence: 

    AY114160.1 BC109190.1 BC109191.1 

    5 DOTS entries:

    DT.86841396  DT.40202520  DT.86852962  DT.112655  DT.99972271 

    Selected AceView cDNA sequences (see all 30):

    T66824 BX094042 AI240881 AY114160 T27695 M11617 BE552138 BU662944 
    T66823 BU662562 AI735459 AW609089 BF374618 H73873 AW809858 BF240184 
    AW293797 R01561 BE842195 BE842236 R00897 T90736 AW810035 AW387993 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CR1L    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:                          -                                       


    ECgene alternative splicing isoforms for CR1L

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CR1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAACTCCT
    CR1L Expression
    About this image

    CR1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CR1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655194

    UniProtKB/Swiss-Prot: CR1L_HUMAN, Q2VPA4
    Tissue specificity: Expressed in fetal liver and to a lesser extent in fetal spleen and thymus. Expression appears
    to be limited to hematopoietic and fetal lymphoid tissue

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CR1L gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cr1l1 complement component (3b/4b) receptor 1-like 66.37(n)
    54.05(a)
      12946  NM_013499.2  NP_038527.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    24(a)
    1 → many
    GL343255.1(1970429-1983402)
    zebrafish
    (Danio rerio)
    Actinopterygii sele6
    selectin E
    12(a)
    many ↔ many
    20(33994038-34001545) ENSDARG00000009123


    ENSEMBL Gene Tree for CR1L (if available)
    TreeFam Gene Tree for CR1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CR1L gene
    CSMD12  SELP2  C4BPA2  CR22  SELL2  CSMD32  APOH2  SELE2  
    CSMD22  CD462  CD552  CR12  SVEP12  
    4 SIMAP similar genes for CR1L using alignment to 1 protein entry:     CR1L_HUMAN:
    CR1    cd21    CD46    CD55

    Find genes that share paralogs with CR1L           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CR1L (see all 1868)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs127439111,2
    C,F,A--207816480(+) ATCTTC/TGAATC 1 -- us2k110Minor allele frequency- T:0.43NA WA CSA EA 372
    rs1143563101,2
    C,F--207816573(+) AAGGTA/GTCTTT 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs778543691,2
    F--207816590(+) AGCCTG/AAAAAT 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs743230951,2
    F--207816601(+) AAATGG/CAGAAT 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs751485931,2
    C--207816645(+) AGACTA/CTCTGC 1 -- us2k10--------
    rs1912780221,2
    --207816844(+) TTGATA/GTACCA 1 -- us2k10--------
    rs1811532621,2
    --207816896(+) TGTTTA/GGGAAG 1 -- us2k10--------
    rs1503005301,2
    --207816911(+) AATTCC/TGTGGT 1 -- us2k10--------
    rs1144702511,2
    C,F--207816982(+) AACTCT/CATAAT 1 -- us2k11Minor allele frequency- C:0.10WA 118
    rs107793401,2
    C,F,A,H--207817025(+) GCATCC/TAATTC 1 -- us2k127Minor allele frequency- T:0.39NS EA NA WA CSA 2772

    HapMap Linkage Disequilibrium report for CR1L (207818458 - 207911761 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CR1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675458CNV Deletion23128226
    esv2676306CNV Deletion23128226
    esv2722106CNV Deletion23290073
    esv2722117CNV Deletion23290073
    esv25546CNV Loss19812545
    nsv8746CNV Loss18304495
    esv27524CNV Loss19812545
    nsv8757CNV Gain18304495
    nsv8735CNV Gain18304495
    dgv175e1CNV Complex17122850

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    (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.)
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    OMIM gene information: 605886    OMIM disorders: --


    Find genes that share disorders with CR1L           About GenesLikeMe

    Genetic Association Database (GAD): CR1L

    Export disorders for CR1L 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)
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    PubMed articles for CR1L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CR1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PubMed id 21700265)1, 4 Kullo I.J....Chute C.G. (Am. J. Hum. Genet. 2011)
    2. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (PubMed id 19060910)1, 4 Sabatti C....Peltonen L. (Nat. Genet. 2009)
    3. A human CR1-like transcript containing sequence for a binding protein for iC4 is expressed in hematopoietic and fetal lymphoid tissue. (PubMed id 14687939)1, 2 Logar C.M.... Birmingham D.J. (Mol. Immunol. 2004)
    4. Duplication and divergence of the amino-terminal coding region of the complement receptor 1 (CR1) gene. An example of concerted (horizontal) evolution within a gene. (PubMed id 2295627)1, 3 Hourcade D.... Atkinson J.P. (J. Biol. Chem. 1990)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1379 HGNC: 2335 AceView: CR1L Ensembl:ENSG00000197721 euGenes: HUgn1379
    ECgene: CR1L H-InvDB: CR1L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CR1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CR1L gene:
    Search GeneIP for patents involving CR1L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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