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

CRISPLD1 Gene

protein-coding   GIFtS: 47
GCID: GC08P075896

Cysteine-Rich Secretory Protein LCCL Domain Containing 1

(Previous name: LCCL domain containing cysteine-rich secretory protein 1)
(Previous symbol: LCRISP1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cysteine-Rich Secretory Protein LCCL Domain Containing 11 2     CRISP-102 3
LCRISP11 2 3     CRISP102 3
LCCL Domain Containing Cysteine-Rich Secretory Protein 11 2     CocoaCrisp2 3
Cysteine-Rich Secretory Protein 102 3     LCCL Domain-Containing Cysteine-Rich Secretory Protein 12 3
Trypsin Inhibitor Hl2 3     Cysteine-Rich Secretory Protein LCCL Domain-Containing 12

External Ids:    HGNC: 182061   Entrez Gene: 836902   Ensembl: ENSG000001210057   UniProtKB: Q9H3363   

Export aliases for CRISPLD1 gene to outside databases

Previous GC identifers: GC08P076060 GC08P071385


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

GeneCards Summary for CRISPLD1 Gene: 
CRISPLD1 (cysteine-rich secretory protein LCCL domain containing 1) is a protein-coding gene. Diseases associated with CRISPLD1 include cleft lip. An important paralog of this gene is CLEC18B.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRISPLD1 gene promoter:
         RFX1   Elk-1   FOXF2   STAT5A   Tal-1beta   FOXL1   N-Myc   MEF-2A   aMEF-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRISPLD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CRISPLD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRISPLD1


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

Entrez Gene cytogenetic band: 8q21.11   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q21.13

CRISPLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRISPLD1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P075896:  view genomic region     (about GC identifiers)

Start:
75,896,708 bp from pter      End:
75,946,793 bp from pter
Size:
50,086 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRLD1_HUMAN, Q9H336 (See protein sequence)
Recommended Name: Cysteine-rich secretory protein LCCL domain-containing 1 precursor  
Size: 500 amino acids; 56888 Da
Subcellular location: Secreted (Potential)
Secondary accessions: B2RA60

Explore the universe of human proteins at neXtProt for CRISPLD1: NX_Q9H336

Explore proteomics data for CRISPLD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H336

  • CRISPLD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRISPLD1 Protein Expression
    REFSEQ proteins: NP_113649.1  
    ENSEMBL proteins: 
     ENSP00000262207   ENSP00000430504   ENSP00000430105   ENSP00000429746  

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CRISPLD1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    CRISPLD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR014044 CAP_domain
     IPR004043 LCCL
     IPR001283 Allrgn_V5/Tpx1
     IPR018244 Allrgn_V5/Tpx1_CS

    Graphical View of Domain Structure for InterPro Entry Q9H336

    ProtoNet protein and cluster: Q9H336

    1 Blocks protein domain: IPB001283 Allergen V5/Tpx-1 related

    UniProtKB/Swiss-Prot: CRLD1_HUMAN, Q9H336
    Similarity: Belongs to the CRISP family
    Similarity: Contains 2 LCCL domains
    Similarity: Contains 1 SCP domain


    CRISPLD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 MGI phenotypic allele for Crispld1 (no phenotypes)

    CRISPLD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Crispld1tm1Lex for CRISPLD1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRISPLD1 
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    SwitchGear 3'UTR luciferase reporter plasmidCRISPLD1 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRISPLD1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRISPLD1 (CRLD1)

    Search CenterWatch for drugs/clinical trials and news about CRISPLD1 / CRLD1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRISPLD1 gene: 
    NM_031461.5  

    Unigene Cluster for CRISPLD1:

    Cysteine-rich secretory protein LCCL domain containing 1
    Hs.436542  [show with all ESTs]
    Unigene Representative Sequence: NM_031461
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262207(uc003yan.3 uc011lfk.2 uc011lfl.2) ENST00000519798
    ENST00000520277 ENST00000523524 ENST00000517786
    miRNA
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    8/77 QIAGEN miScript miRNA Assays for microRNAs that regulate CRISPLD1 (see all 77):
    hsa-miR-194* hsa-miR-411* hsa-miR-579 hsa-miR-376b hsa-miR-300 hsa-miR-4272 hsa-miR-519a hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmidCRISPLD1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRISPLD1
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    Additional mRNA sequence: 

    AF142573.1 AF329197.1 AK304034.1 AK304350.1 AK314048.1 AL834301.1 AY358564.1 BC020514.1 

    6 DOTS entries:

    DT.444156  DT.97837464  DT.40293165  DT.100739341  DT.120630914  DT.100713134 

    24/77 AceView cDNA sequences (see all 77):

    AI570368 NM_031461 AI631328 AI338457 Z44826 AA476657 CB161320 AI083598 
    AI968449 BX279999 AL044670 AL834301 AA406099 AI222020 BM906901 BQ013589 
    AF142573 N67422 Z41722 AA433951 CA413219 BC020514 AW182460 AI698316 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CRISPLD1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                -                                                                                 


    ECgene alternative splicing isoforms for CRISPLD1

    (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

    CRISPLD1 expression in normal human tissues (normalized intensities)      CRISPLD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CRISPLD1 Expression
    About this image


    CRISPLD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             clps   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             hIPS1
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
             Meninges
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5

    See CRISPLD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRISPLD1

    SOURCE GeneReport for Unigene cluster: Hs.436542
        SABiosciences Custom PCR Arrays for CRISPLD1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRISPLD1

    (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 CRISPLD1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crispld11 , 5 cysteine-rich secretory protein LCCL domain containing more1, 5 88.4(n)1
    94.6(a)1
      1 (5.32 cM)5
    836911  NM_031402.21  NP_113579.21 
     177270455 
    chicken
    (Gallus gallus)
    Aves CRISPLD11 cysteine-rich secretory protein LCCL domain containing more 82.86(n)
    87.14(a)
      395369  NM_204654.1  NP_989985.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRISPLD16
    Uncharacterized protein
    85(a)
    1 ↔ 1
    4(34164806-34207729)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636362 hypothetical protein MGC63636 76.05(n)   393442  BC055176.1 


    ENSEMBL Gene Tree for CRISPLD1 (if available)
    TreeFam Gene Tree for CRISPLD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRISPLD1 gene
    CLEC18B2  CRISPLD22  CLEC18C2  PI162  GLIPR12  CRISP22  PI152  CRISP12  
    CRISP32  GLIPR1L12  CLEC18A2  GLIPR1L22  R3HDML2  
    3 SIMAP similar genes for CRISPLD1 using alignment to 4 protein entries:     CRLD1_HUMAN (see all proteins):
    CRISPLD2    PI15    R3HDML

    CRISPLD1 for paralogs           About GeneDecksing



    (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) 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

    10/1112 SNPs in CRISPLD1 are shown (see all 1112)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414188371,2
    --71383722(+) TAAATC/TAGTCA 1 -- us2k10--------
    rs726692811,2
    C,F--71383777(+) CATTCG/ACCTCT 1 -- us2k14Minor allele frequency- A:0.22NA CSA WA 242
    rs1171838501,2
    C,F--71383808(+) CATGTG/AAGAGG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs70178931,2
    C,F,H--71383833(+) TAAATT/CGGAGG 1 -- us2k118Minor allele frequency- C:0.10NS EA NA CSA WA 2342
    rs64728801,2
    C,F,A,H--71383839(+) GGAGGC/TTATGG 1 -- us2k19Minor allele frequency- T:0.18EA NS NA WA 796
    rs774630331,2
    C,F--75894869(+) GTGAAG/AAAGAC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs64728811,2
    C,F,A,H--75894894(+) ACACAC/TAGATT 1 -- us2k113Minor allele frequency- T:0.17NS EA NA WA 1960
    rs9608561,2
    C,F,A,H--75894907(-) TTTGTA/TGTTGA 1 -- us2k118Minor allele frequency- T:0.48NS EA NA CSA WA 1140
    rs1178879191,2
    F--75894914(+) CAAATA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1498409111,2
    --75894946(+) GTATTC/GAAGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRISPLD1 (75896708 - 75946793 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CRISPLD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737182CNV Deletion23290073
    esv2492216CNV Deletion19546169
    nsv891022CNV Loss21882294
    nsv891018CNV Loss21882294
    nsv891019CNV Loss21882294
    esv28358CNV Gain+Loss19812545

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for CRISPLD1:    About MalaCards
    cleft lip    


    CRISPLD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CRISPLD1
    Human Genome Epidemiology (HuGE) Navigator: CRISPLD1 (2 documents)

    Export disorders for CRISPLD1 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 CRISPLD1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with CRISPLD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    3. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. (PubMed id 21254358)1 Chiquet B.T....Hecht J.T. (2011)
    4. Whole genome association scan for genetic polymorphis ms influencing information processing speed. (PubMed id 21130836)4 Luciano M....Deary I.J. (2011)
    5. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    7. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 83690 HGNC: 18206 AceView: LOC83690 Ensembl:ENSG00000121005 euGenes: HUgn83690
    ECgene: CRISPLD1 H-InvDB: CRISPLD1

    (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 CRISPLD1 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 CRISPLD1 gene:
    Search GeneIP for patents involving CRISPLD1

    GeneCards and IP:
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