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

CAPSL Gene

protein-coding   GIFtS: 44
GCID: GC05M035905

Calcyphosine-Like

  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
calcyphosine-like1 2
Calcyphosin-Like Protein2

External Ids:    HGNC: 283751   Entrez Gene: 1336902   Ensembl: ENSG000001526117   UniProtKB: Q8WWF83   

Export aliases for CAPSL gene to outside databases

Previous GC identifers: GC05M035941 GC05M035854


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

GeneCards Summary for CAPSL Gene: 
CAPSL (calcyphosine-like) is a protein-coding gene. Diseases associated with CAPSL include type 1 diabetes. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CAPS2.


(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_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPSL gene promoter:
         CBF-A   CBF-B   FOXF2   CP1A   CBF(2)   CBF-C   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPSL promoter sequence
   Search SABiosciences Chromatin IP Primers for CAPSL

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


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

Entrez Gene cytogenetic band: 5p13.2   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M035905:  view genomic region     (about GC identifiers)

Start:
35,904,397 bp from pter      End:
35,938,881 bp from pter
Size:
34,485 bases      Orientation:
minus 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: CAPSL_HUMAN, Q8WWF8 (See protein sequence)
Recommended Name: Calcyphosin-like protein  
Size: 208 amino acids; 24229 Da
Subcellular location: Cytoplasm (Potential)
Sequence caution: Sequence=AAH17586.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for CAPSL: NX_Q8WWF8

Explore proteomics data for CAPSL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWF8

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

    CAPSL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001036090.1  NP_653248.3  

    ENSEMBL proteins: 
     ENSP00000380524   ENSP00000424806   ENSP00000421018   ENSP00000380523  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    CAPSL 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
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR001125 Recoverin
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q8WWF8

    ProtoNet protein and cluster: Q8WWF8

    UniProtKB/Swiss-Prot: CAPSL_HUMAN, Q8WWF8
    Similarity: Contains 4 EF-hand domains


    CAPSL 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CAPSL for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Capsl):
     no phenotypic analysis 

    CAPSL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAPSL 
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    Inhib. RNA
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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 CAPSL

    (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 CAPSL

    Search CenterWatch for drugs/clinical trials and news about CAPSL

    (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,
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    About This Section

    REFSEQ mRNAs for CAPSL gene (2 alternative transcripts): 
    NM_001042625.1  NM_144647.3  

    Unigene Cluster for CAPSL:

    Calcyphosine-like
    Hs.55150  [show with all ESTs]
    Unigene Representative Sequence: NM_144647
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397367(uc003jju.1) ENST00000513623 ENST00000514524 ENST00000397366(uc003jjt.1)

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPSL:
    hsa-miR-579 hsa-miR-4261 hsa-miR-3160-3p
    SwitchGear 3'UTR luciferase reporter plasmidCAPSL 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPSL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPSL

    Additional mRNA sequence: BC017586.2 

    3 DOTS entries:

    DT.95366678  DT.107221  DT.120810611 

    24/28 AceView cDNA sequences (see all 28):

    BM983750 AW292295 CB851555 BX090721 AA885514 BI827184 BC017586 NM_144647 
    W25222 BM975803 AI818811 BM970798 AI336032 CD702475 AW571544 BG199953 
    BG771879 BG213998 CD687387 N95268 BG221250 AA934359 AI925136 CD707583 

    GeneLoc Exon Structure


    (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

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


    CAPSL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Primitive Streak Cells Primitive Streak
             Primitive Streak
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Fourth Ventricle
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Endothelium (Cardiovascular System)
             blood vessel   

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

    SOURCE GeneReport for Unigene cluster: Hs.55150
        SABiosciences Custom PCR Arrays for CAPSL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPSL

    (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 animals.

    Orthologs for CAPSL gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capsl1 , 5 calcyphosine-like1, 5 89.42(n)1
    94.71(a)1
      15 (4.09 cM)5
    755681  NM_029341.11  NP_083617.21 
     94360285 
    chicken
    (Gallus gallus)
    Aves CAPSL1 calcyphosine-like 79.49(n)
    83.17(a)
      426055  XM_001232404.1  XP_001232405.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPSL6
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343241.1(1606071-1632188)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.188442 Xenopus laevis transcribed sequence with weak similarity more 89.03(n)    BI446724.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj05b102 wufj05b10 73.31(n)   335351  57071351 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101261 CG10126 55.95(n)
    51.76(a)
      41579  NM_141977.2  NP_650234.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPSL gene
    CAPS22  CAPS2  
    6 SIMAP similar genes for CAPSL using alignment to 3 protein entries:     CAPSL_HUMAN (see all proteins):
    CAPS    FLJ00390    TNNC1    CALML5    TNNC2    CAPS2

    CAPSL 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

    10/830 SNPs in CAPSL are shown (see all 830)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs567452441,2
    C--35879294(+) TTTTT-/T/TTT 
            
    CTGAA
    2 -- int11NA 2
    rs1915891511,2
    C--35903910(+) TTTCTA/GGAATA 2 -- int10--------
    rs1495970711,2
    --35903933(+) ACAGCA/GCAAGA 2 -- int10--------
    rs22879001,2
    C,F,O,H--35903997(-) TTCATG/AGTACT 2 -- int131Minor allele frequency- A:0.17NS NA EA WA 3000
    rs1143793631,2
    C--35904086(+) TGAATA/CTATTT 2 -- int10--------
    rs1838333561,2
    C--35904101(+) AACTGC/TGGCTT 2 -- int10--------
    rs1881076011,2
    --35904123(+) AAGCAC/GTGAAA 2 -- int10--------
    rs727424631,2
    C,F--35904173(+) CTTCTG/TCTGGT 2 -- int10--------
    rs1848203451,2
    --35904297(+) CATGGA/GTGAGG 2 -- int10--------
    rs1900983591,2
    --35904301(+) GGTGAA/GGGTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for CAPSL (35904397 - 35938881 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CAPSL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4794CNV Loss18451855
    nsv471011CNV Gain18288195
    nsv483069CNV Gain15286789
    nsv830261CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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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 CAPSL:    About MalaCards
    type 1 diabetes    


    CAPSL for disorders           About GeneDecksing

    Genetic Association Database (GAD): CAPSL
    Human Genome Epidemiology (HuGE) Navigator: CAPSL (1 document)

    Export disorders for CAPSL 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 CAPSL gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with CAPSL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Study of the association between the CAPSL-IL7R locus and type 1 diabetes. (PubMed id 18563381)1, 4 Santiago J.L....Urcelay E. (2008)
    2. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (PubMed id 17554260)1, 4 Todd J.A.... Clayton D.G. (2007)
    3. 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)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Genome-wide association study identifies 12 new susce ptibility loci for primary biliary cirrhosis. (PubMed id 21399635)4 Mells G.F....Anderson C.A. (2011)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (2007)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 133690 HGNC: 28375 AceView: MGC26610 Ensembl:ENSG00000152611 euGenes: HUgn133690
    ECgene: CAPSL H-InvDB: CAPSL

    (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 CAPSL 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 CAPSL gene:
    Search GeneIP for patents involving CAPSL

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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