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

CALD1 Gene

protein-coding   GIFtS: 66
GCID: GC07P134429

caldesmon 1

 Explore 27 diseases affiliated with
CALD1 via our new
 Human Malady Compendium 
Biological research products
for CALD1
    

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

Aliases
Caldesmon 11 2     LCAD2
CDM1 2 3 5     NAG222
H-CAD1 2     Caldesmon1
L-CAD1 2     CAD3
HCAD2     

External Ids:    HGNC: 14411   Entrez Gene: 8002   Ensembl: ENSG000001227867   OMIM: 1142135   UniProtKB: Q056823   

Export aliases for CALD1 gene to outside databases

Previous GC identifers: GC07P132807 GC07P133866 GC07P133880 GC07P133921 GC07P134114 GC07P128770


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

Entrez Gene summary for CALD1:
This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth
muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to
Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the
actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of
smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct
isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CALD1_HUMAN, Q05682
Function: Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle
and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of
tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin
ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin.
Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also play an essential role during
cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By
similarity)

Gene Wiki entry for CALD1 (Caldesmon)


(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CALD1 gene promoter:
         GR   Nkx2-2   GR-beta   Evi-1   Gfi-1   AREB6   SRY   Sox9   GR-alpha   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): CALD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CALD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALD1


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

CALD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALD1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P134429:  view genomic region     (about GC identifiers)

Start:
134,429,003 bp from pter      End:
134,655,480 bp from pter
Size:
226,478 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 133,808,491-133,999,799     

(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: CALD1_HUMAN, Q05682 (See protein sequence)
Recommended Name: Caldesmon  
Size: 793 amino acids; 93231 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril (By similarity). Note=On thin
filaments in smooth muscle and on stress fibers in fibroblasts (nonmuscle) (By similarity)
Secondary accessions: A8K0X1 Q13978 Q13979 Q14741 Q14742 Q9UD91
Alternative splicing: 6 isoforms:  Q05682-1   Q05682-2   Q05682-3   Q05682-4   Q05682-5   Q05682-6   (No experimental confirmation available. Contains a phosphoserine at position 202)

Explore the universe of human proteins at neXtProt for CALD1: NX_Q05682

Post-translational modifications:

  • In non-muscle cells, phosphorylation by CDK1 during mitosis causes caldesmon to dissociate from microfilaments.
  • Phosphorylation reduces caldesmon binding to actin, myosin, and calmodulin as well as its inhibition of actomyosin
    ATPase activity. Phosphorylation also occurs in both quiescent and dividing smooth muscle cells with similar effects
    on the interaction with actin and calmodulin and on microfilaments reorganization. CDK1-mediated phosphorylation
    promotes Schwann cell migration during peripheral nerve regeneration (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05682

  • CALD1 Protein expression data from MOPED and PaxDb:    About this image 
    CALD1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_004333.1  NP_149129.2  NP_149130.1  NP_149131.1  NP_149347.2  

    ENSEMBL proteins: 
     ENSP00000398826   ENSP00000411476   ENSP00000395710   ENSP00000401988   ENSP00000394715  
     ENSP00000354826   ENSP00000354513   ENSP00000390926   ENSP00000416611   ENSP00000407522  
     ENSP00000393621   ENSP00000419673   ENSP00000355000   ENSP00000376826   ENSP00000445641  
    Reactome Protein details: Q05682
    Human Recombinant Protein Products for CALD1: 
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    Novus Biologicals CALD1 Protein
    Novus Biologicals CALD1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CALD1

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0005884actin filament ----
    GO:0005886plasma membrane IDA--

    CALD1 for ontologies           About GeneDecksing



    CALD1 Antibody Products: 
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    Uscn ELISAs and CLIAs for CALD1


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

    CALD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006018 Caldesmon_LSP
     IPR006017 Caldesmon

    Graphical View of Domain Structure for InterPro Entry Q05682

    ProtoNet protein and cluster: Q05682

    1 Blocks protein family: IPB006017 Caldesmon signature

    UniProtKB/Swiss-Prot: CALD1_HUMAN, Q05682
    Domain: The N-terminal part seems to be a myosin/calmodulin-binding domain, and the C-terminal a
    tropomyosin/actin/calmodulin-binding domain. These two domains are separated by a central helical region in the
    smooth-muscle form
    Similarity: Belongs to the caldesmon family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CALD1_HUMAN, Q05682
    Function: Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle
    and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of
    tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin
    ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin.
    Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also play an essential role during
    cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By
    similarity)

         Genatlas biochemistry entry for CALD1:
    F-actin cross linking protein,caldesmon,with two alternatively spliced forms,high molecular weight in smooth muscle,low
    molecular weight in non muscle tissues and cells

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005523tropomyosin binding TAS1555769
    GO:0017022myosin binding IEA--
         
    CALD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cald1):
     growth/size  mortality/aging 

    CALD1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Cald1tm1Claw for CALD1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CALD1 

    miRNA
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    hsa-miR-3146 hsa-miR-106a hsa-miR-199a-3p hsa-miR-30d hsa-miR-374a hsa-miR-138-2* hsa-miR-519a hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidCALD1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALD1


    (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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development Angiotensin activation of ERK
    Development_ACM2 and ACM4 activation of ERK0.74
    Development ACM2 and ACM4 activation of ERK0.74
    2Striated Muscle Contraction
    Muscle contraction0.65
    Smooth Muscle Contraction0.11
    3Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    4Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways0.43
    5Integrin Pathway
    Transendothelial Migration of Leukocytes0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CALD1
        Development ACM2 and ACM4 activation of ERK

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CALD1
        Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for CALD1
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for CALD1
        Development ACM2 and ACM4 activation of ERK

    1 BioSystems Pathway for CALD1 
        Myometrial Relaxation and Contraction Pathways

    2        Reactome Pathways for CALD1
        Smooth Muscle Contraction
    Muscle contraction


    1         Kegg Pathway  (Kegg details for CALD1):
        Vascular smooth muscle contraction


    CALD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CALD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/74 Interacting proteins for CALD1 (Q056823 ENSP000003548264) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=6 STRING: ENSP00000349467
    CALM2P621583I2D: score=6 
    CALM3P621583I2D: score=6 
    SHC1P293533, ENSP000004013034I2D: score=3 STRING: ENSP00000401303
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS16130169
    GO:0006936muscle contraction TAS--
    GO:0032092positive regulation of protein binding ----
    GO:0051017actin filament bundle assembly ----

    CALD1 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

    CALD1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CALD1

    1 HMDB Compound for CALD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for CALD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 59.7 1 1555769 (1)

    Search CenterWatch for drugs/clinical trials and news about CALD1 

    (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, Sirion Biotech, 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 CALD1 gene (5 alternative transcripts): 
    NM_004342.6  NM_033138.3  NM_033139.3  NM_033140.3  NM_033157.3  

    Unigene Cluster for CALD1:

    Caldesmon 1
    Hs.490203  [show with all ESTs]
    Unigene Representative Sequence: NM_033138
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000417172 ENST00000436461 ENST00000422748 ENST00000454108 ENST00000475772
    ENST00000430085 ENST00000462181 ENST00000361675(uc011kpv.2) ENST00000482470(uc003vry.3)
    ENST00000361901 ENST00000498254 ENST00000489019 ENST00000445569 ENST00000435928
    ENST00000443197(uc010lmn.3) ENST00000424922 ENST00000495522 ENST00000496024


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    hsa-miR-3146 hsa-miR-106a hsa-miR-199a-3p hsa-miR-30d hsa-miR-374a hsa-miR-138-2* hsa-miR-519a hsa-miR-502-3p
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    Additional cDNA sequence: 

    AB062484.1 AF315788.1 AJ223812.1 AK289686.1 AK298524.1 AK300282.1 AK304729.1 BC005006.1 
    BC014035.2 BC015839.1 BC040354.1 BC061926.1 BX538339.1 BX648808.1 BX649088.1 D90452.1 
    D90453.1 M64110.1 M83216.1 

    24/61 DOTS entries (see all 61):

    DT.92363185  DT.92356093  DT.100804334  DT.75179907  DT.100887643  DT.100887640  DT.95144198  DT.91734996 
    DT.121060716  DT.121061155  DT.91718961  DT.95325381  DT.91949878  DT.120376  DT.121060633  DT.121061097 
    DT.91773458  DT.92011164  DT.121061167  DT.121060876  DT.408386  DT.95303419  DT.100887647  DT.100887631 

    2 AceView cDNA sequences:

    BF001035 AI888318 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CALD1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
    SP1:                                                                                                                                                            
    SP2:                    -           -                 -     -     -                                                                                             
    SP3:                    -           -           -     -     -     -     -                                                                                       
    SP4:                                                                                                        -                                                   
    SP5:                    -           -                 -     -                                                                                                   

    ExUns: 18b ^ 19a · 19b ^ 20a · 20b · 20c
    SP1:        -                           
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for CALD1

    (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

    CALD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTGTGAAT
    CALD1 Expression
    About this image

    CALD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EndotheliumVeinsVascular Smooth Muscle CellsSmooth Muscle
    HeartAortic Arch ArteriesVascular Smooth Muscle CellsMyocardium, Neural Crest, Smooth Muscle
    HeartEndocardiumVascular Smooth Muscle CellsSmooth Muscle
    TestisTestis CordDeveloping Peritubular Myoid CellsReproductive System
    EyeInner Nuclear LayernGnG Amacrine CellsAmacrine, Retina
    LungRespiratory BronchiolesBasal CellsLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Paraxial mesoderm-derived smooth muscle cells (Generation of human ...)
    Lateral plate mesoderm-derived smooth muscle cells (Generation of human ...)
    Smooth muscle-like cells (Isolation of vascula...)

    See CALD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CALD1

    SOURCE GeneReport for Unigene cluster: Hs.490203

    UniProtKB/Swiss-Prot: CALD1_HUMAN, Q05682
    Tissue specificity: High-molecular-weight caldesmon (isoform 1) is predominantly expressed in smooth muscles, whereas
    low-molecular-weight caldesmon (isoforms 2, 3, 4 and 5) are widely distributed in non-muscle tissues and cells. Not
    expressed in skeletal muscle or heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including CALD1: 
              Cytoskeleton Regulators in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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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 CALD1 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cald15 caldesmon 1   --   6 (15.07 cM) 34598500 
    chicken
    (Gallus gallus)
    Aves CALD11 caldesmon 1 71.27(n)
    69.9(a)
      373965  NM_204158.1  NP_989489.1 
    lizard
    (Anolis carolinensis)
    Reptilia CALD16
    --
    61(a)
    1 ↔ 1
    5(14685010-14705479)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.129792 Transcribed sequence with moderate similarity to protein more 77.66(n)    BX722942.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI545879.12   -- 78.82(n)   322909  AI545879.1 


    ENSEMBL Gene Tree for CALD1 (if available)
    TreeFam Gene Tree for CALD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CALD1 gene
    TCHH2  NEXN2  EIF3A2  
    2 SIMAP similar genes for CALD1 using alignment to 12 protein entries:     CALD1_HUMAN (see all proteins):
    DKFZp686P03208    DKFZp779D0769

    CALD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CALD1
    PGOHUM00000233576


    (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

    10/3005 NCBI SNPs in CALD1 are shown (see all 3005    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58877151,2
    C--128886467(+) gtttt-/TGTTTT
            
    gagac
    1 -- int11Minor allele frequency- TGTTTT:0.00NA 2
    rs749123871,2
    C--133806790(+) CGGAAC/TGTCTC 3 -- us2k12Minor allele frequency- T:0.18CSA WA 120
    rs69647921,2
    C,A--133806805(+) CACAGG/TTCATA 3 -- us2k1 tfbs30--------
    rs38073331,2
    C,F,A,H--133806848(+) TTCTGA/GACTCC 3 -- us2k111Minor allele frequency- G:0.11EA NS NA WA 2230
    rs171680311,2
    C,F,H--133806884(+) AGCCCA/GGCAGT 3 -- us2k111Minor allele frequency- G:0.05NA NS EA WA 680
    rs38471191,2
    C,F,A,H--133807045(+) GTGGTG/ATTCCA 3 -- us2k14Minor allele frequency- A:0.01NS EA 412
    rs791497251,2
    F--133807087(+) AATGCA/GACATT 3 -- us2k11Minor allele frequency- G:0.04WA 118
    rs38073341,2
    C,F,H--133807475(+) TAAAGA/CCCAGT 3 -- us2k17Minor allele frequency- C:0.04EA NS WA 1832
    rs797428771,2
    C,F--133807608(+) AGTGCT/GCCAAA 3 -- us2k11Minor allele frequency- G:0.09WA 118
    rs778145731,2
    F--133807753(+) AACCAT/AGAAGA 3 -- us2k11Minor allele frequency- A:0.05NA 120

    HapMap Linkage Disequilibrium report for CALD1 (134429003 - 134655480 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CALD1
         2 CNVs: 52093 64957
         1 Indel: 41351

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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.)
    About This Section

    CALD1 for disorders           About GeneDecksing

    OMIM gene information: 114213    OMIM disorders: --

    20/27 diseases for CALD1 (see all 27):    About MalaCards
    mixed endometrial stromal and smooth muscle tumor    smooth muscle tumor    perivascular epithelioid cell tumor    lung combined type small cell carcinoma
    pseudosarcomatous fibromatosis    cervical adenoma malignum    endometrial stromal nodule    vulvar leiomyoma
    endometrial stromal sarcoma    myofibroma    glomus tumor    fibromatosis
    kidney leiomyosarcoma    chondroblastoma    leiomyosarcoma    leiomyoma
    hemangiopericytoma    kaposi's sarcoma    gastric leiomyoma    sarcoma

    11 diseases from the University of Copenhagen DISEASES database for CALD1:
    Leiomyosarcoma     Leiomyoma     Endometrial stromal sarcoma     Smooth muscle tumor
    Vascular cancer     Pseudosarcomatous fibromatosis     Kidney leiomyosarcoma     Hemangiopericytoma
    Myofibroma     Sarcoma     Mixed endometrial stromal and smooth muscle tumor
    Genetic Association Database (GAD): CALD1
    Human Genome Epidemiology (HuGE) Navigator: CALD1 (3 documents)

    Export disorders for CALD1 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 CALD1 gene, integrated from 9 sources (see all 71):
    (articles sorted by number of sources associating them with CALD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones encoding a human fibroblast caldesmon isoform and analysis of caldesmon expression in normal and transformed cells. (PubMed id 1885618)1, 2, 3 Novy R.E.... Lin J.J.-C. (1991)
    2. Genomic structure of the human caldesmon gene. (PubMed id 1465449)1, 2, 9 Hayashi K.... Sobue K. (1992)
    3. Cloning of cDNAs encoding human caldesmons. (PubMed id 1555769)1, 2, 9 Humphrey M.B.... Bryan J. (1992)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. Association between variation in the actin-binding gene caldesmon and diabetic nephropathy in type 1 diabetes. (PubMed id 15047636)1, 4 Conway B.R....Fogarty D.G. (2004)
    8. Differential effects of caldesmon on the intermediate conformational states of polymerizing actin. (PubMed id 19889635)1, 9 Huang R....Wang C.L. (2010)
    9. Regulation of microfilament organization by Kaposi sarcoma-associated herpes virus-cyclin.CDK6 phosphorylation of caldesmon. (PubMed id 16115893)1, 9 Cuomo M.E....Mittnacht S. (2005)
    10. Differential expression of splicing variants of the human caldesmon gene (CALD1) in glioma neovascularization versus normal brain microvasculature. (PubMed id 15161654)1, 9 Zheng P.P....Kros J.M. (2004)

    (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: 800 HGNC: 1441 AceView: CALD1.3 Ensembl:ENSG00000122786 euGenes: HUgn800
    ECgene: CALD1 Kegg: 800 H-InvDB: CALD1

    (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 CALD1 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 CALD1 gene:
    Search GeneIP for patents involving CALD1

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



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    About This Section

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