Human Gene CRISPLD1 (uc011lfk.2) Description and Page Index
  Description: Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:75,912,401-75,946,793 Size: 34,393 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr8:75,926,276-75,944,477 Size: 18,202 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:75,912,401-75,946,793)mRNA (may differ from genome)Protein (312 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CRLD1_HUMAN
DESCRIPTION: RecName: Full=Cysteine-rich secretory protein LCCL domain-containing 1; AltName: Full=CocoaCrisp; AltName: Full=Cysteine-rich secretory protein 10; Short=CRISP-10; AltName: Full=LCCL domain-containing cysteine-rich secretory protein 1; AltName: Full=Trypsin inhibitor Hl; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
SIMILARITY: Belongs to the CRISP family.
SIMILARITY: Contains 2 LCCL domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CRISPLD1
CDC HuGE Published Literature: CRISPLD1
Positive Disease Associations: Body Mass Index , Cholesterol, LDL , Echocardiography , Leukocyte Count , Neurobehavioral Manifestations , Waist Circumference , Waist-Hip Ratio
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.77 RPKM in Artery - Aorta
Total median expression: 91.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -158.00550-0.287 Picture PostScript Text
3' UTR -481.812316-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001283 - Allrgn_V5/Tpx1
IPR018244 - Allrgn_V5/Tpx1_CS
IPR014044 - CAP_domain
IPR004043 - LCCL

Pfam Domains:
PF03815 - LCCL domain

SCOP Domains:
55797 - PR-1-like
69848 - LCCL domain

ModBase Predicted Comparative 3D Structure on Q9H336
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0060325 face morphogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AY358564 - Homo sapiens clone DNA45417 trypsin inhibitor Hl (UNQ342) mRNA, complete cds.
BC020514 - Homo sapiens cysteine-rich secretory protein LCCL domain containing 1, mRNA (cDNA clone MGC:17639 IMAGE:3856615), complete cds.
AK314048 - Homo sapiens cDNA, FLJ94711, Homo sapiens CocoaCrisp (LOC83690), mRNA.
AL834301 - Homo sapiens mRNA; cDNA DKFZp762F133 (from clone DKFZp762F133).
AF142573 - Homo sapiens putative secretory protein precursor, mRNA, complete cds.
AF329197 - Homo sapiens CocoaCrisp mRNA, complete cds.
JF432689 - Synthetic construct Homo sapiens clone IMAGE:100073928 cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1) gene, encodes complete protein.
KJ899712 - Synthetic construct Homo sapiens clone ccsbBroadEn_09106 CRISPLD1 gene, encodes complete protein.
AK304034 - Homo sapiens cDNA FLJ57290 complete cds, highly similar to Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.
AK304350 - Homo sapiens cDNA FLJ50365 complete cds, highly similar to Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.
JD239164 - Sequence 220188 from Patent EP1572962.
JD359891 - Sequence 340915 from Patent EP1572962.
JD276945 - Sequence 257969 from Patent EP1572962.
JD245443 - Sequence 226467 from Patent EP1572962.
JD502220 - Sequence 483244 from Patent EP1572962.
JD113715 - Sequence 94739 from Patent EP1572962.
JD122395 - Sequence 103419 from Patent EP1572962.
JD490750 - Sequence 471774 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK304034, B2RA60, CRISP10, CRLD1_HUMAN, LCRISP1, NM_031461, NP_113649, Q9H336, UNQ342/PRO541
UCSC ID: uc011lfk.2
RefSeq Accession: NM_031461
Protein: Q9H336 (aka CRLD1_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK304034.1
exon count: 14CDS single in 3' UTR: no RNA size: 1814
ORF size: 939CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1645.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.