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Aliases for CALD1 Gene

Aliases for CALD1 Gene

  • Caldesmon 1 2 3 5
  • CDM 3 4
  • Testis Secretory Sperm-Binding Protein Li 227n 3
  • Caldesmon 3
  • H-CAD 3
  • L-CAD 3
  • NAG22 3
  • LCAD 3
  • HCAD 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 Mixed Endometrial Stromal And Smooth Muscle Tumor and Kidney Leiomyosarcoma. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and myosin binding.

UniProtKB/Swiss-Prot 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 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 Gene

Additional gene information for CALD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALD1 Gene

Genomics for CALD1 Gene

GeneHancer (GH) Regulatory Elements for CALD1 Gene

Promoters and enhancers for CALD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I134890 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 568.9 +147.7 147729 3.7 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 KLF7 CALD1 C7orf49 PIR46779 GC07M134784
GH07I134777 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.3 +36.5 36477 6.6 HDGF PKNOX1 FOXA2 FEZF1 ZNF2 FOS SP3 TSHZ1 ATF4 STAT3 CALD1 GC07M134784
GH07I134787 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563 +45.1 45136 3.9 SRF CEBPG ATF2 NR2F2 ZNF766 POLR2A ZNF512 SCRT2 ZNF341 HMBOX1 CALD1 GC07M134784 PIR46779
GH07I134741 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 556.9 -1.2 -1214 3.6 JUN TEAD4 TAL1 TCF12 GATA2 POLR2A NCOR1 CBFA2T2 CBFA2T3 DPF2 CALD1 TMEM140 TUBB3P2
GH07I134746 Enhancer 0.4 FANTOM5 dbSUPER 552.9 +1.9 1939 0.2 CALD1 GC07M134784
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CALD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CALD1 gene promoter:

Genomic Locations for CALD1 Gene

Genomic Locations for CALD1 Gene
chr7:134,744,252-134,970,729
(GRCh38/hg38)
Size:
226,478 bases
Orientation:
Plus strand
chr7:134,429,003-134,655,480
(GRCh37/hg19)

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

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

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

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
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 play an essential role during cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By similarity).

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 TAS,IEA --
GO:0005523 tropomyosin binding TAS 1555769
GO:0017022 myosin binding IEA --
genes like me logo Genes that share ontologies with CALD1: view

Phenotypes for CALD1 Gene

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

Clone Products

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. Note=On thin filaments in smooth muscle and on stress fibers in fibroblasts (nonmuscle). {ECO:0000250}.

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

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 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
1 Qiagen pathway for CALD1 Gene
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:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
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 Approved Nutra 0

(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

Unigene Clusters for CALD1 Gene

Caldesmon 1:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CALD1

Expression for CALD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CALD1 Gene



Protein tissue co-expression partners for CALD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALD1 Gene:

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

  • Skin(4.9)
  • Nervous system(4.9)
  • Liver(4.7)
  • Lung(4.7)
  • Muscle(4.3)
  • Kidney(4.1)
  • Intestine(3.8)
  • Heart(3.2)
  • Stomach(3.1)
  • Bone(2.9)
  • Gall bladder(2.8)
  • Spleen(2.5)
  • Eye(2.4)
  • Lymph node(2.4)
  • Pancreas(2.4)
  • Adrenal gland(2.3)
  • Blood(2.1)
  • Thyroid gland(2)
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 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CALD1 33 34
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Cald1 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CALD1 33 34
  • 85.19 (n)
oppossum
(Monodelphis domestica)
Mammalia CALD1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALD1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALD1 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CALD1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124848 33
  • 64.45 (n)
Str.12979 33
zebrafish
(Danio rerio)
Actinopterygii cald1l 34
  • 54 (a)
OneToMany
cald1 34
  • 37 (a)
OneToMany
-- 33
Species where no ortholog for CALD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CALD1 Gene

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

No data available for Paralogs for CALD1 Gene

Variants for CALD1 Gene

Sequence variations from dbSNP and Humsavar for CALD1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000003157 -- 134,880,512(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000012759 -- 134,821,816(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000090731 -- 134,780,300(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000098496 -- 134,825,764(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000103430 -- 134,969,375(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CALD1 Gene

MalaCards: The human disease database

(34) MalaCards diseases for CALD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed endometrial stromal and smooth muscle tumor
  • stromomyoma
kidney leiomyosarcoma
  • leiomyosarcoma of kidney
intravascular fasciitis
  • intravascular pseudosarcomatous fasciitis
deep leiomyoma
glomangiomyoma
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. Cloning of cDNAs encoding human caldesmons. (PMID: 1555769) Humphrey MB … Bryan J (Gene 1992) 3 4 22 58
  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 58
  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 44 58
  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 58

Products for CALD1 Gene

Sources for CALD1 Gene

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