Gene Gene information from NCBI Gene database.
Entrez ID 800
Gene name Caldesmon 1
Gene symbol CALD1
Synonyms (NCBI Gene)
CDMH-CADHCADL-CADLCADNAG22h-CD
Chromosome 7
Chromosome location 7q33
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, tropomy
miRNA miRNA information provided by mirtarbase database.
463
miRTarBase ID miRNA Experiments Reference
MIRT023307 hsa-miR-122-5p Proteomics 21750653
MIRT025321 hsa-miR-34a-5p Proteomics 21566225
MIRT025321 hsa-miR-34a-5p Proteomics 21566225
MIRT030858 hsa-miR-21-5p Microarray 18591254
MIRT051318 hsa-miR-15a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR3C1 Activation 18772142
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding TAS 1555769
GO:0005515 Function Protein binding IPI 21044950, 30021884, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114213 1441 ENSG00000122786
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05682
Protein name Caldesmon (CDM)
Protein 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 th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02029 Caldesmon 31 299 Caldesmon Disordered
PF02029 Caldesmon 296 780 Caldesmon Disordered
Tissue specificity 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
Sequence
MDDFERRRELRRQKREEMRLEAERIAYQRNDDDEEEAARERRRRARQERLRQKQEEESLG
QVTDQVEVNAQNSVPDEEAKTTTTNTQVEGDDEAAFLERLARREERRQKRLQEALERQKE
FDPTITDASLSLPSRRMQNDTAENETTEKEEKSESRQERYEIEETETVTKSYQKNDWRDA
EENKKEDKEKEEEEEEKPKRGSIGENQVEVMVEEKTTESQEETVVMSLKNGQISSEEPKQ
EEEREQGSDEISHHEKMEEEDKERAEAERARLEAEERERIKAEQDKKIADERARI
EAEEK
AAAQERERREAEERERMREEEKRAAEERQRIKEEEKRAAEERQRIKEEEKRAAEERQRIK
EEEKRAAEERQRARAEEEEKAKVEEQKRNKQLEEKKHAMQETKIKGEKVEQKIEGKWVNE
KKAQEDKLQTAVLKKQGEEKGTKVQAKREKLQEDKPTFKKEEIKDEKIKKDKEPKEEVKS
FMDRKKGFTEVKSQNGEFMTHKLKHTENTFSRPGGRASVDTKEAEGAPQVEAGKRLEELR
RRRGETESEEFEKLKQKQQEAALELEELKKKREERRKVLEEEEQRRKQEEADRKLREEEE
KRRLKEEIERRRAEAAEKRQKMPEDGLSDDKKPFKCFTPKGSSLKIEERAEFLNKSVQKS
SGVKSTHQAAIVSKIDSRLEQYTSAIEGTKSAKPTKPAASDLPVPAEGVRNIKSMWEKGN
VFSSPTAAGTPNKETAGLKVGVSSRINEWLTKTPDGNKSPAPKPSDLRPGDVSSKRNLWE

KQSVDKVTSPTKV
Sequence length 793
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Vascular smooth muscle contraction   Smooth Muscle Contraction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 28009610
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 23609438
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 34852854 Associate
★☆☆☆☆
Found in Text Mining only
Basal Cell Nevus Syndrome Basal cell nevus syndrome Pubtator 35740900 Stimulate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 29235490 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29556341
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23418348, 25264628, 26657294 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 19466261, 8605326 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 26430961
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 33099932 Inhibit
★☆☆☆☆
Found in Text Mining only