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Gene id

800

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CALD1 Gene UCSC Ensembl

Aliases

CDM, H-CAD, HCAD, L-CAD, LCAD, NAG22

Gene name

caldesmon 1

Alternate names

caldesmon, testis secretory sperm-binding protein Li 227n,

Gene location

7q33 (140558092: 140550066) Exons: 5 NC_000005.10

Gene summary(Entrez)

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]

OMIM

114213

Protein Summary

Protein general information

Q05682

Name: Caldesmon (CDM)

Length: 793 Mass: 93,231

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

MDDFERRRELRRQKREEMRLEAERIAYQRNDDDEEEAARERRRRARQERLRQKQEEESLGQVTDQVEVNAQNSVP
DEEAKTTTTNTQVEGDDEAAFLERLARREERRQKRLQEALERQKEFDPTITDASLSLPSRRMQNDTAENETTEKE
EKSESRQERYEIEETETVTKSYQKNDWRDAEENKKEDKEKEEEEEEKPKRGSIGENQVEVMVEEKTTESQEETVV
MSLKNGQISSEEPKQEEEREQGSDEISHHEKMEEEDKERAEAERARLEAEERERIKAEQDKKIADERARIEAEEK
AAAQERERREAEERERMREEEKRAAEERQRIKEEEKRAAEERQRIKEEEKRAAEERQRIKEEEKRAAEERQRARA
EEEEKAKVEEQKRNKQLEEKKHAMQETKIKGEKVEQKIEGKWVNEKKAQEDKLQTAVLKKQGEEKGTKVQAKREK
LQEDKPTFKKEEIKDEKIKKDKEPKEEVKSFMDRKKGFTEVKSQNGEFMTHKLKHTENTFSRPGGRASVDTKEAE
GAPQVEAGKRLEELRRRRGETESEEFEKLKQKQQEAALELEELKKKREERRKVLEEEEQRRKQEEADRKLREEEE
KRRLKEEIERRRAEAAEKRQKMPEDGLSDDKKPFKCFTPKGSSLKIEERAEFLNKSVQKSSGVKSTHQAAIVSKI
DSRLEQYTSAIEGTKSAKPTKPAASDLPVPAEGVRNIKSMWEKGNVFSSPTAAGTPNKETAGLKVGVSSRINEWL
TKTPDGNKSPAPKPSDLRPGDVSSKRNLWEKQSVDKVTSPTKV

Structural information

Interpro:	IPR006017 IPR006018
Pfam:	PF02029
MINT:
STRING:	ENSP00000354826;

Other Databases

GeneCards: CALD1; Malacards: CALD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	IEA	molecular_function
GO:0005523	tropomyosin binding	TAS	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0017022	myosin binding	IEA	molecular_function
GO:0030016	myofibril	IEA	cellular_component
GO:0030478	actin cap	IEA	cellular_component
GO:0003779	actin binding	IEA	molecular_function
GO:0003779	actin binding	IEA	molecular_function
GO:0003779	actin binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	IEA	molecular_function
GO:0005516	calmodulin binding	IEA	molecular_function
GO:0005516	calmodulin binding	TAS	molecular_function
GO:0005523	tropomyosin binding	TAS	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	IEA	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0017022	myosin binding	IEA	molecular_function
GO:0030016	myofibril	IEA	cellular_component
GO:0030478	actin cap	IEA	cellular_component
GO:0003779	actin binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	TAS	molecular_function
GO:0005523	tropomyosin binding	TAS	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component

KEGG pathways

hsa04270 Vascular smooth muscle contraction

Diseases

Associated diseases	References
Nephropathy	GAD15047636
Diabetes	GAD12187087
Endometriosis	PubMed23575144

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23575144	Endometrio sis						Show abstract