CALD1 caldesmon 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALD1provided by HGNC
Official Full Name: caldesmon 1provided by HGNC
Primary source: HGNC:HGNC:1441
See related: Ensembl:ENSG00000122786 MIM:114213; AllianceGenome:HGNC:1441
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-CD; 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: mouse all
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Genomic context

Location:: 7q33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (134745467..134970729)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (136053098..136278520)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (134464385..134655480)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL14 Promotes Oral Squamous Cell Carcinoma Progression by Regulating the mRNA and m6A Levels of CALD1.
Title: METTL14 Promotes Oral Squamous Cell Carcinoma Progression by Regulating the mRNA and m6A Levels of CALD1.
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.
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.
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.
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.
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.
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.
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.
Caldesmon is a possible predictor of endometrial dysregulation in patients with endometriosis.
Title: Caldesmon: new insights for diagnosing endometriosis.
Caldesmon expression inhibits cancer cell migration and invasiveness.
Title: Identification and functional validation of caldesmon as a potential gastric cancer metastasis-associated protein.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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

EBI GWAS Catalog

Description
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1317196 (e-PCR)
- UniSTS:76807

RH11457 (e-PCR)
- UniSTS:34323

RH104265 (e-PCR)
- UniSTS:98590

G20301 (e-PCR)
- UniSTS:3108

A005L07 (e-PCR)
- UniSTS:3109

SHGC-82810 (e-PCR)
- UniSTS:102440

D8S2279 (e-PCR)
- UniSTS:473907

WI-17596 (e-PCR)
- UniSTS:58700

GDB:4585525 (e-PCR)
- UniSTS:20067

D1S1423 (e-PCR)
- UniSTS:149619

CALD1 (e-PCR)
- UniSTS:503682

D16S325 (e-PCR)
- UniSTS:147089

D1S3698 (e-PCR)
- UniSTS:474276

CALD1 (e-PCR)
- UniSTS:15790

D7S2330 (e-PCR)
- UniSTS:8895

WI-9105 (e-PCR)
- UniSTS:28378

RH16186 (e-PCR)
- UniSTS:65243

SHGC-34706 (e-PCR)
- UniSTS:65244

D7S2751 (e-PCR)
- UniSTS:82676

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables myosin binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
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
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
located_in stress fiber	IEA Inferred from Electronic Annotation 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

NG_029186.2 RefSeqGene

Range

39169..230264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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/TrEMBL

A0A140VKA0, B7Z6G4

Related

ENSP00000354513.2, ENST00000361901.6

Conserved Domains (1) summary

pfam02029
Location:267 → 525

Caldesmon; Caldesmon
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

A8K0X1, Q05682, Q13978, Q13979, Q14741, Q14742, Q9UD91

Related

ENSP00000354826.2, ENST00000361675.7

Conserved Domains (1) summary

pfam02029
Location:517 → 780

Caldesmon; Caldesmon
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/TrEMBL

B7Z6G4

Related

ENSP00000376826.2, ENST00000393118.7

Conserved Domains (1) summary

pfam02029
Location:282 → 545

Caldesmon; Caldesmon
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/TrEMBL

B7Z6G4

Related

ENSP00000393621.1, ENST00000424922.5

Conserved Domains (1) summary

pfam02029
Location:256 → 519

Caldesmon; Caldesmon
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/TrEMBL

B7Z6G4

Related

ENSP00000395710.1, ENST00000422748.5

Conserved Domains (1) summary

pfam02029
Location:288 → 550

Caldesmon; Caldesmon