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CALD1 caldesmon 1 [ Homo sapiens (human) ]

Gene ID: 800, updated on 8-Jul-2021

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
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-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
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Genomic context

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See CALD1 in Genome Data Viewer
Location:
7q33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134779629..134970729)
105.20201022 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 LOC107986850 Neighboring gene tubulin beta 3 class III pseudogene 2 Neighboring gene AGBL carboxypeptidase 3 Neighboring gene cell cycle regulator of NHEJ 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
  • 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. Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study. Śnit M, et al. Endokrynol Pol, 2017. PMID 28255976
  2. Overexpression of caldesmon is associated with tumor progression in patients with primary non-muscle-invasive bladder cancer. Lee MS, et al. Oncotarget, 2015 Nov 24. PMID 26430961, Free PMC Article
  3. Caldesmon: new insights for diagnosing endometriosis. Meola J, et al. Biol Reprod, 2013 May. PMID 23575144
  4. Identification and functional validation of caldesmon as a potential gastric cancer metastasis-associated protein. Hou Q, et al. J Proteome Res, 2013 Feb 1. PMID 23265641
  5. Histochemical localization of caldesmon isoforms in colon adenocarcinoma and lymph node metastases. Köhler C. Virchows Arch, 2011 Jul. PMID 21626272

See all (101) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Caldesmon is a possible predictor of endometrial dysregulation in patients with endometriosis.
    Title: Caldesmon: new insights for diagnosing endometriosis.
  9. Caldesmon expression inhibits cancer cell migration and invasiveness.
    Title: Identification and functional validation of caldesmon as a potential gastric cancer metastasis-associated protein.
  10. Disruption of the normal inhibitory function of human caldesmon 1 enhances intestinal peristalsis in both wild-type zebrafish larvae and mutant larvae that lack enteric nerves
    Title: Smooth muscle caldesmon modulates peristalsis in the wild type and non-innervated zebrafish intestine.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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

Associated conditions

Description Tests
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
GeneReviews: Not available

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
 PubMed 
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
 PubMed 
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
 PubMed 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
  

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_029186.1 RefSeqGene

    Range
    5222..196317
    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/Swiss-Prot
    Q05682
    UniProtKB/TrEMBL
    A0A140VKA0
    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
    Q05682
    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/Swiss-Prot
    Q05682
    Related
    ENSP00000376826.2, ENST00000393118.6
    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/Swiss-Prot
    Q05682
    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/Swiss-Prot
    Q05682
    Related
    ENSP00000395710.1, ENST00000422748.5
    Conserved Domains (1) summary
    pfam02029
    Location:288 → 550
    Caldesmon; Caldesmon

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    134779629..134970729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012650.2 → XP_016868139.1  caldesmon isoform X1

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

  2. XM_024446942.1 → XP_024302710.1  caldesmon isoform X2

    Conserved Domains (1) summary
    pfam02029
    Location:293 → 551
    Caldesmon; Caldesmon

  3. XM_024446943.1 → XP_024302711.1  caldesmon isoform X4

    Conserved Domains (1) summary
    pfam02029
    Location:267 → 524
    Caldesmon; Caldesmon

  4. XM_017012652.1 → XP_016868141.1  caldesmon isoform X3

    UniProtKB/Swiss-Prot
    Q05682
    UniProtKB/TrEMBL
    A0A140VKA0
    Conserved Domains (1) summary
    pfam02029
    Location:267 → 525
    Caldesmon; Caldesmon

  5. XM_017012654.2 → XP_016868143.1  caldesmon isoform X5

RNA

  1. XR_002956488.1 RNA Sequence

  2. XR_001744877.2 RNA Sequence

  3. XR_002956489.1 RNA Sequence

  4. XR_002956490.1 RNA Sequence

  5. XR_001744880.2 RNA Sequence

  6. XR_927535.2 RNA Sequence

  7. XR_927541.2 RNA Sequence

  8. XR_927537.3 RNA Sequence

  9. XR_001744879.2 RNA Sequence

  10. XR_927542.3 RNA Sequence

    Related
    ENST00000443197.5

  11. XR_001744881.2 RNA Sequence

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

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