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 s... See more...

Aliases for CALD1 Gene

Aliases for CALD1 Gene

  • Caldesmon 1 2 3 5
  • CDM 2 3 4
  • Caldesmon 3 4
  • H-CAD 2 3
  • L-CAD 2 3
  • Testis Secretory Sperm-Binding Protein Li 227n 3
  • NAG22 3
  • CALD1 5
  • HCAD 3
  • LCAD 3
  • CAD 4

External Ids for CALD1 Gene

Previous GeneCards Identifiers for CALD1 Gene

  • GC07P132807
  • GC07P133866
  • GC07P133880
  • GC07P133921
  • GC07P134114
  • GC07P134429
  • GC07P128770

Summaries for CALD1 Gene

Entrez Gene Summary for CALD1 Gene

  • 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]

GeneCards Summary for CALD1 Gene

CALD1 (Caldesmon 1) is a Protein Coding gene. Diseases associated with CALD1 include Atypical Polypoid Adenomyoma and Adenomyoma. Among its related pathways are Development Angiotensin activation of ERK and Myometrial Relaxation and Contraction Pathways. Gene Ontology (GO) annotations related to this gene include actin binding and myosin binding. An important paralog of this gene is LSP1.

UniProtKB/Swiss-Prot Summary for CALD1 Gene

  • 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 plays 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CALD1 Gene

Genomics for CALD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CALD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CALD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CALD1

Top Transcription factor binding sites by QIAGEN in the CALD1 gene promoter:
  • AREB6
  • Evi-1
  • Gfi-1
  • GR
  • GR-alpha
  • GR-beta
  • Hlf
  • Nkx2-2
  • Sox9
  • SRY

Genomic Locations for CALD1 Gene

Latest Assembly
chr7:134,744,252-134,970,729
(GRCh38/hg38)
Size:
226,478 bases
Orientation:
Plus strand

Previous Assembly
chr7:134,464,385-134,655,480
(GRCh37/hg19 by Entrez Gene)
Size:
191,096 bases
Orientation:
Plus strand

chr7:134,429,003-134,655,479
(GRCh37/hg19 by Ensembl)
Size:
226,477 bases
Orientation:
Plus strand

Genomic View for CALD1 Gene

Genes around CALD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALD1 Gene

Proteins for CALD1 Gene

  • Protein details for CALD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05682-CALD1_HUMAN
    Recommended name:
    Caldesmon
    Protein Accession:
    Q05682
    Secondary Accessions:
    • A8K0X1
    • Q13978
    • Q13979
    • Q14741
    • Q14742
    • Q9UD91

    Protein attributes for CALD1 Gene

    Size:
    793 amino acids
    Molecular mass:
    93231 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CALD1 Gene

neXtProt entry for CALD1 Gene

Post-translational modifications for CALD1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

No data available for DME Specific Peptides for CALD1 Gene

Domains & Families for CALD1 Gene

Gene Families for CALD1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CALD1 Gene

InterPro:
Blocks:
  • Caldesmon signature

Suggested Antigen Peptide Sequences for CALD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76646, highly similar to Homo sapiens caldesmon 1 (CALD1), transcript variant 3, mRNA (A8K0X1_HUMAN)
  • Caldesmon (CALD1_HUMAN)
  • CALD1 protein (Q05DR4_HUMAN)
  • CALD1 protein (Q6P707_HUMAN)
  • CALD1 protein (Q6PJM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05682

UniProtKB/Swiss-Prot:

CALD1_HUMAN :
  • 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.
  • Belongs to the caldesmon family.
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.
Family:
  • Belongs to the caldesmon family.
genes like me logo Genes that share domains with CALD1: view

Function for CALD1 Gene

Molecular function for CALD1 Gene

UniProtKB/Swiss-Prot 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 plays an essential role during cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By similarity).
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for CALD1 Gene

Gene Ontology (GO) - Molecular Function for CALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 21044950
GO:0005516 calmodulin binding IEA --
GO:0005523 tropomyosin binding TAS 1555769
GO:0017022 myosin binding IEA --
genes like me logo Genes that share ontologies with CALD1: view
genes like me logo Genes that share phenotypes with CALD1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALD1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CALD1 Gene

Localization for CALD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALD1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril. Cytoplasm, cytoskeleton, stress fiber. Note=On thin filaments in smooth muscle and on stress fibers in fibroblasts (nonmuscle). {ECO:0000250 UniProtKB:P13505}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CALD1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA,TAS 16130169
GO:0005886 plasma membrane IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with CALD1: view

Pathways & Interactions for CALD1 Gene

genes like me logo Genes that share pathways with CALD1: view

Pathways by source for CALD1 Gene

1 BioSystems pathway for CALD1 Gene
2 Reactome pathways for CALD1 Gene
1 KEGG pathway for CALD1 Gene
1 GeneGo (Thomson Reuters) pathway for CALD1 Gene
  • Development ACM2 and ACM4 activation of ERK
1 Qiagen pathway for CALD1 Gene
  • Transendothelial Migration of Leukocytes
1 Cell Signaling Technology pathway for CALD1 Gene

SIGNOR curated interactions for CALD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IBA 21873635
GO:0006936 muscle contraction IEA,TAS --
GO:0051017 actin filament bundle assembly IBA 21873635
genes like me logo Genes that share ontologies with CALD1: view

Drugs & Compounds for CALD1 Gene

(1) Drugs for CALD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(1) Additional Compounds for CALD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CALD1: view

Transcripts for CALD1 Gene

mRNA/cDNA for CALD1 Gene

5 REFSEQ mRNAs :
40 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALD1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CALD1 Gene

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: - - - -
SP6: - - -
SP7: -
SP8: - -
SP9:
SP10:
SP11: -
SP12:

ExUns: 18b ^ 19a · 19b ^ 20a · 20b · 20c
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:

Relevant External Links for CALD1 Gene

GeneLoc Exon Structure for
CALD1

Expression for CALD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CALD1 Gene

mRNA differential expression in normal tissues according to GTEx for CALD1 Gene

This gene is overexpressed in Esophagus - Muscularis (x5.4), Artery - Tibial (x4.6), and Colon - Sigmoid (x4.1).

Protein differential expression in normal tissues from HIPED for CALD1 Gene

This gene is overexpressed in Bone marrow stromal cell (11.4), Seminal vesicle (7.6), Colon muscle (7.5), and Urinary Bladder (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CALD1 Gene



Protein tissue co-expression partners for CALD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CALD1

SOURCE GeneReport for Unigene cluster for CALD1 Gene:

Hs.490203

mRNA Expression by UniProt/SwissProt for CALD1 Gene:

Q05682-CALD1_HUMAN
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.

Evidence on tissue expression from TISSUES for CALD1 Gene

  • Nervous system(4.9)
  • Skin(4.9)
  • Liver(4.8)
  • Lung(4.7)
  • Muscle(4.3)
  • Kidney(4.2)
  • Intestine(4)
  • Heart(3.5)
  • Stomach(3.4)
  • Bone(3.2)
  • Gall bladder(3.2)
  • Spleen(3)
  • Pancreas(3)
  • Lymph node(2.9)
  • Eye(2.7)
  • Adrenal gland(2.7)
  • Thyroid gland(2.6)
  • Blood(2.5)
genes like me logo Genes that share expression patterns with CALD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CALD1 Gene

Orthologs for CALD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CALD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CALD1 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CALD1 29 30
  • 89.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cald1 30
  • 87 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CALD1 29 30
  • 85.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CALD1 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CALD1 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CALD1 30
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CALD1 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100124848 29
  • 64.45 (n)
Str.12979 29
Zebrafish
(Danio rerio)
Actinopterygii cald1l 30
  • 54 (a)
OneToMany
cald1 30
  • 37 (a)
OneToMany
-- 29
Species where no ortholog for CALD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CALD1 Gene

ENSEMBL:
Gene Tree for CALD1 (if available)
TreeFam:
Gene Tree for CALD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CALD1: view image
Alliance of Genome Resources:
Additional Orthologs for CALD1

Paralogs for CALD1 Gene

Paralogs for CALD1 Gene

(2) SIMAP similar genes for CALD1 Gene using alignment to 12 proteins:

  • CALD1_HUMAN
  • C9J813_HUMAN
  • C9JE79_HUMAN
  • C9JEK3_HUMAN
  • E7EX44_HUMAN
  • E9PGZ1_HUMAN
  • F5H1Z9_HUMAN
  • F8WE61_HUMAN
  • Q05DR4_HUMAN
  • Q6P707_HUMAN
  • Q6PJM5_HUMAN
  • Q9NYG1_HUMAN
genes like me logo Genes that share paralogs with CALD1: view

Variants for CALD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CALD1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs112633425 Benign: not provided 134,958,240(+) A/G
NM_033138.4(CALD1):c.2011A>G (p.Ile671Val)
MISSENSE
rs114442219 Benign: not provided 134,933,281(+) C/T
NM_033138.4(CALD1):c.512C>T (p.Ser171Phe)
MISSENSE
rs117593246 Benign: not provided 134,933,720(+) G/A
NM_033138.4(CALD1):c.951G>A (p.Met317Ile)
MISSENSE_VARIANT,INTRON
rs140355865 Likely Benign: not provided 134,933,133(+) G/A
NM_033138.4(CALD1):c.364G>A (p.Asp122Asn)
MISSENSE
rs140413545 Likely Benign: not provided 134,933,540(+) G/A
NM_033138.4(CALD1):c.771G>A (p.Met257Ile)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CALD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CALD1 Gene

Variant ID Type Subtype PubMed ID
dgv3672n106 OTHER inversion 24896259
esv2668646 CNV deletion 23128226
esv2677689 CNV deletion 23128226
esv2735182 CNV deletion 23290073
esv2735183 CNV deletion 23290073
esv2764025 CNV loss 21179565
esv29739 CNV loss 19812545
esv3615105 CNV loss 21293372
esv3615106 CNV loss 21293372
esv3615107 CNV loss 21293372
esv4039 CNV loss 18987735
nsv1124268 CNV deletion 24896259
nsv1140846 CNV deletion 24896259
nsv1151758 OTHER inversion 26484159
nsv365920 CNV deletion 16902084
nsv516148 CNV loss 19592680
nsv521781 CNV loss 19592680
nsv527174 CNV loss 19592680
nsv5959 CNV insertion 18451855
nsv981831 CNV deletion 23825009

Variation tolerance for CALD1 Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.02; 60.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CALD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALD1
Leiden Open Variation Database (LOVD)
CALD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALD1 Gene

Disorders for CALD1 Gene

MalaCards: The human disease database

(114) MalaCards diseases for CALD1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
atypical polypoid adenomyoma
adenomyoma
angiomyoma
  • vascular leiomyoma
glomangiosarcoma
  • malignant glomus neoplasm
glomangiomatosis
- elite association - COSMIC cancer census association via MalaCards
Search CALD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CALD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CALD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CALD1 Gene

Publications for CALD1 Gene

  1. Cloning of cDNAs encoding human caldesmons. (PMID: 1555769) Humphrey MB … Bryan J (Gene 1992) 3 4 22
  2. Genomic structure of the human caldesmon gene. (PMID: 1465449) Hayashi K … Sobue K (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22
  3. Characterization of cDNA clones encoding a human fibroblast caldesmon isoform and analysis of caldesmon expression in normal and transformed cells. (PMID: 1885618) Novy RE … Lin JJ (The Journal of biological chemistry 1991) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Differential effects of caldesmon on the intermediate conformational states of polymerizing actin. (PMID: 19889635) Huang R … Wang CL (The Journal of biological chemistry 2010) 3 22

Products for CALD1 Gene

Sources for CALD1 Gene