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    CALD1 caldesmon 1 [ Homo sapiens (human) ]

    Gene ID: 800, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CALD1provided by HGNC
    Official Full Name
    caldesmon 1provided by HGNC
    Primary source
    HGNC:HGNC:1441
    See related
    Ensembl:ENSG00000122786 MIM:114213; AllianceGenome:HGNC:1441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDM; HCAD; LCAD; h-CD; H-CAD; L-CAD; NAG22
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 170.6), prostate (RPKM 164.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CALD1 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134745467..134970729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (136053098..136278520)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134464385..134655480)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901750 Neighboring gene uncharacterized LOC124901751 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:134426881-134427534 Neighboring gene tubulin beta 3 class III pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:134469373-134469873 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:134529756-134530955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18675 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134622660-134622865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26701 Neighboring gene AGBL carboxypeptidase 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:134760279-134760886 Neighboring gene MPRA-validated peak6750 silencer Neighboring gene cell cycle regulator of NHEJ Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26706 Neighboring gene RNF14 pseudogene 4 Neighboring gene transmembrane protein 140

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Low-molecular weight caldesmon as a potential serum marker for glioma. Zheng PP, et al. Clin Cancer Res, 2005 Jun 15. PMID 15958622
    2. Specific but variable expression of h-caldesmon in leiomyosarcomas: an immunohistochemical reassessment of a novel myogenic marker. Hisaoka M, et al. Appl Immunohistochem Mol Morphol, 2001 Dec. PMID 11759055
    3. Caldesmon and smooth-muscle regulation. Wang CL. Cell Biochem Biophys, 2001. PMID 11894847
    4. Motifs of the caldesmon family. Czuryło EA. Acta Biochim Pol, 2000. PMID 11996092
    5. Caldesmon: new insights for diagnosing endometriosis. Meola J, et al. Biol Reprod, 2013 May. PMID 23575144

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.
      Title: The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.
    2. Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target.
      Title: Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target.
    3. METTL14 Promotes Oral Squamous Cell Carcinoma Progression by Regulating the mRNA and m6A Levels of CALD1.
      Title: METTL14 Promotes Oral Squamous Cell Carcinoma Progression by Regulating the mRNA and m6A Levels of CALD1.
    4. Proteomic analysis revealed a group of molecules associated with cytoskeleton organization, including caldesmon, were differentially expressed between fibroblasts isolated from bone destruction non-functioning pituitary adenomas (BD-NFPAs) and fibroblasts isolated from non-bone destruction NFPAs (NBD-NFPAs). The secreted proteins analysis found that osteopontin was significantly upregulated in BD-NFPAs fibroblasts.
      Title: Fibroblasts play a potential role in bone destruction via osteopontin related caldesmon expression and polymerization in human non-functioning pituitary adenomas.
    5. rs 3807337 polymorphism of CALD1 gene is associated with diabetic nephropathy occurrence in type 1 diabetes.
      Title: Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study.
    6. ANXA1 and CALD1 proteins are independent markers for tamoxifen therapy outcome and are associated to fast tumor progression.
      Title: Annexin-A1 and caldesmon are associated with resistance to tamoxifen in estrogen receptor positive recurrent breast cancer.
    7. Data indicate that low-molecular-weight caldesmon isoforms (L-CAD) promotes migration and invasiveness of urothelial bladder carcinoma (BC) cells.
      Title: Overexpression of caldesmon is associated with tumor progression in patients with primary non-muscle-invasive bladder cancer.
    8. Caldesmon and smoothelin staining allows better delineation of the muscularis propria from the desmoplastic stromal reaction which provides a critical aide for proper staging of colonic adenocarcinomas.
      Title: Smoothelin and caldesmon are reliable markers for distinguishing muscularis propria from desmoplasia: a critical distinction for accurate staging colorectal adenocarcinoma.
    9. caldesmon is not useful in distinguishing between peritoneal epithelioid mesotheliomas and papillary serous carcinomas involving the peritoneum
      Title: Value of PAX8, PAX2, claudin-4, and h-caldesmon immunostaining in distinguishing peritoneal epithelioid mesotheliomas from serous carcinomas.
    10. The data suggest that PKGIbeta enhances breast cancer cell motility and invasive capacity, at least in part, by phosphorylating CaD.
      Title: cGMP-dependent protein kinase Iβ regulates breast cancer cell migration and invasion via interaction with the actin/myosin-associated protein caldesmon.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC21352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tropomyosin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cap IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in myofibril IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    caldesmon
    Names
    testis secretory sperm-binding protein Li 227n

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029186.2 RefSeqGene

      Range
      39169..230264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004342.7 → NP_004333.1  caldesmon isoform 2

      See identical proteins and their annotated locations for NP_004333.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. It is mainly expressed in non-muscle tissues or cells. The resulting isoform (2, also known as WI-38 l-CaD II) lacks an internal region, compared to isoform 1.
      Source sequence(s)
      AU134367, BC040354, CA447404, CN314587, CV573441, DA546174, DB090561
      Consensus CDS
      CCDS5834.1
      UniProtKB/TrEMBL
      A0A140VKA0, B7Z6G4
      Related
      ENSP00000354513.2, ENST00000361901.6
      Conserved Domains (1) summary
      pfam02029
      Location:267 → 525
      Caldesmon; Caldesmon

    2. NM_033138.4 → NP_149129.2  caldesmon isoform 1

      See identical proteins and their annotated locations for NP_149129.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as aorta h-CaD). It is predominantly expressed in smooth muscle tissues.
      Source sequence(s)
      AC083870, AU134367, CA447404, CN314587, CV573441, DA546174, DB090561, M83216
      Consensus CDS
      CCDS5835.1
      UniProtKB/Swiss-Prot
      A8K0X1, Q05682, Q13978, Q13979, Q14741, Q14742, Q9UD91
      Related
      ENSP00000354826.2, ENST00000361675.7
      Conserved Domains (1) summary
      pfam02029
      Location:517 → 780
      Caldesmon; Caldesmon

    3. NM_033139.4 → NP_149130.1  caldesmon isoform 4

      See identical proteins and their annotated locations for NP_149130.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. It is mainly expressed in non-muscle tissues or cells. The resulting isoform (4, also known as HeLa l-CaD I) contains a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC083870, AU134367, CA447404, CK821334, CN314587, CV573441, D90452, DA323544, DA546174
      Consensus CDS
      CCDS47716.1
      UniProtKB/TrEMBL
      B7Z6G4
      Related
      ENSP00000376826.2, ENST00000393118.7
      Conserved Domains (1) summary
      pfam02029
      Location:282 → 545
      Caldesmon; Caldesmon

    4. NM_033140.4 → NP_149131.1  caldesmon isoform 5

      See identical proteins and their annotated locations for NP_149131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. It is mainly expressed in non-muscle tissues or cells. The resulting isoform (5, also known as HeLa l-CaD II) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC083870, AU134367, CA447404, CK821334, CN314587, CV573441, D90453, DA323544, DA546174
      Consensus CDS
      CCDS47717.1
      UniProtKB/TrEMBL
      B7Z6G4
      Related
      ENSP00000393621.1, ENST00000424922.5
      Conserved Domains (1) summary
      pfam02029
      Location:256 → 519
      Caldesmon; Caldesmon

    5. NM_033157.4 → NP_149347.2  caldesmon isoform 3

      See identical proteins and their annotated locations for NP_149347.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the central coding region, compared to variant 1. It is mainly expressed in non-muscle tissues or cells. The resulting isoform (3, also known as WI-38 l-CaD I) is shorter than isoform 1.
      Source sequence(s)
      AK289686, AU134367, CA447404, CN314587, CV573441, DA546174
      Consensus CDS
      CCDS5836.2
      UniProtKB/TrEMBL
      B7Z6G4
      Related
      ENSP00000395710.1, ENST00000422748.5
      Conserved Domains (1) summary
      pfam02029
      Location:288 → 550
      Caldesmon; Caldesmon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      134745467..134970729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420865.1 → XP_047276821.1  caldesmon isoform X7

    2. XM_047420867.1 → XP_047276823.1  caldesmon isoform X8

    3. XM_047420874.1 → XP_047276830.1  caldesmon isoform X13

      UniProtKB/TrEMBL
      A0A140VKA0
      Related
      ENSP00000398826.1, ENST00000417172.5

    4. XM_047420875.1 → XP_047276831.1  caldesmon isoform X14

    5. XM_047420859.1 → XP_047276815.1  caldesmon isoform X1

    6. XM_047420871.1 → XP_047276827.1  caldesmon isoform X11

      Related
      ENSP00000411476.2, ENST00000436461.6

    7. XM_017012650.3 → XP_016868139.1  caldesmon isoform X3

      Conserved Domains (1) summary
      pfam02029
      Location:517 → 779
      Caldesmon; Caldesmon

    8. XM_024446942.2 → XP_024302710.1  caldesmon isoform X7

      UniProtKB/TrEMBL
      B7Z6G4
      Conserved Domains (1) summary
      pfam02029
      Location:293 → 551
      Caldesmon; Caldesmon

    9. XM_024446943.2 → XP_024302711.1  caldesmon isoform X14

      UniProtKB/TrEMBL
      B7Z6G4
      Conserved Domains (1) summary
      pfam02029
      Location:267 → 524
      Caldesmon; Caldesmon

    10. XM_047420858.1 → XP_047276814.1  caldesmon isoform X1

    11. XM_047420861.1 → XP_047276817.1  caldesmon isoform X2

    12. XM_047420864.1 → XP_047276820.1  caldesmon isoform X6

    13. XM_047420870.1 → XP_047276826.1  caldesmon isoform X11

    14. XM_047420873.1 → XP_047276829.1  caldesmon isoform X12

    15. XM_047420866.1 → XP_047276822.1  caldesmon isoform X7

    16. XM_017012652.2 → XP_016868141.1  caldesmon isoform X13

      UniProtKB/TrEMBL
      A0A140VKA0, B7Z6G4
      Conserved Domains (1) summary
      pfam02029
      Location:267 → 525
      Caldesmon; Caldesmon

    17. XM_047420876.1 → XP_047276832.1  caldesmon isoform X14

    18. XM_047420860.1 → XP_047276816.1  caldesmon isoform X1

    19. XM_047420872.1 → XP_047276828.1  caldesmon isoform X11

    20. XM_047420863.1 → XP_047276819.1  caldesmon isoform X5

    21. XM_047420869.1 → XP_047276825.1  caldesmon isoform X10

      UniProtKB/TrEMBL
      E7EX44
      Related
      ENSP00000419673.1, ENST00000495522.1

    22. XM_017012654.3 → XP_016868143.1  caldesmon isoform X17

      UniProtKB/TrEMBL
      B7Z6G4

    23. XM_047420862.1 → XP_047276818.1  caldesmon isoform X4

    24. XM_047420868.1 → XP_047276824.1  caldesmon isoform X9

    25. XM_047420877.1 → XP_047276833.1  caldesmon isoform X15

      UniProtKB/TrEMBL
      E9PGZ1
      Related
      ENSP00000407522.1, ENST00000443197.5

    26. XM_047420878.1 → XP_047276834.1  caldesmon isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      136053098..136278520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359074.1 → XP_054215049.1  caldesmon isoform X13

      UniProtKB/TrEMBL
      A0A140VKA0

    2. XM_054359065.1 → XP_054215040.1  caldesmon isoform X7

    3. XM_054359067.1 → XP_054215042.1  caldesmon isoform X8

    4. XM_054359077.1 → XP_054215052.1  caldesmon isoform X14

    5. XM_054359057.1 → XP_054215032.1  caldesmon isoform X1

    6. XM_054359071.1 → XP_054215046.1  caldesmon isoform X11

    7. XM_054359060.1 → XP_054215035.1  caldesmon isoform X3

    8. XM_054359064.1 → XP_054215039.1  caldesmon isoform X7

    9. XM_054359076.1 → XP_054215051.1  caldesmon isoform X14

    10. XM_054359056.1 → XP_054215031.1  caldesmon isoform X1

    11. XM_054359059.1 → XP_054215034.1  caldesmon isoform X2

    12. XM_054359063.1 → XP_054215038.1  caldesmon isoform X6

    13. XM_054359070.1 → XP_054215045.1  caldesmon isoform X11

    14. XM_054359073.1 → XP_054215048.1  caldesmon isoform X12

    15. XM_054359075.1 → XP_054215050.1  caldesmon isoform X13

      UniProtKB/TrEMBL
      A0A140VKA0

    16. XM_054359066.1 → XP_054215041.1  caldesmon isoform X7

    17. XM_054359078.1 → XP_054215053.1  caldesmon isoform X14

    18. XM_054359058.1 → XP_054215033.1  caldesmon isoform X1

    19. XM_054359072.1 → XP_054215047.1  caldesmon isoform X11

    20. XM_054359062.1 → XP_054215037.1  caldesmon isoform X5

    21. XM_054359069.1 → XP_054215044.1  caldesmon isoform X10

      UniProtKB/TrEMBL
      E7EX44

    22. XM_054359081.1 → XP_054215056.1  caldesmon isoform X17

    23. XM_054359061.1 → XP_054215036.1  caldesmon isoform X4

    24. XM_054359068.1 → XP_054215043.1  caldesmon isoform X9

    25. XM_054359079.1 → XP_054215054.1  caldesmon isoform X15

      UniProtKB/TrEMBL
      E9PGZ1

    26. XM_054359080.1 → XP_054215055.1  caldesmon isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05682.3 GenPept UniProtKB/Swiss-Prot:Q05682

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