Format

Send to:

Choose Destination

CALD1 caldesmon 1 [ Homo sapiens (human) ]

Gene ID: 800, updated on 8-Dec-2019

Summary

Official Symbol
CALD1provided by HGNC
Official Full Name
caldesmon 1provided by HGNC
Primary source
HGNC:HGNC:1441
See related
Ensembl:ENSG00000122786 MIM:114213
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-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

Genomic context

See CALD1 in Genome Data Viewer
Location:
7q33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134779629..134970729)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134464164..134655480)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986850 Neighboring gene tubulin beta 3 class III pseudogene 2 Neighboring gene ATP/GTP binding protein like 3 Neighboring gene cell cycle regulator of NHEJ Neighboring gene RNF14 pseudogene 4 Neighboring gene transmembrane protein 140

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
    Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
myosin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tropomyosin binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cap IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
myofibril IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
caldesmon
Names
testis secretory sperm-binding protein Li 227n

NCBI Reference Sequences (RefSeq)

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

  1. NG_029186.1 RefSeqGene

    Range
    5222..196317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004342.7NP_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/Swiss-Prot
    Q05682
    UniProtKB/TrEMBL
    A0A140VKA0
    Related
    ENSP00000354513.2, ENST00000361901.6
    Conserved Domains (1) summary
    pfam02029
    Location:267525
    Caldesmon; Caldesmon
  2. NM_033138.4NP_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
    Q05682
    Related
    ENSP00000354826.2, ENST00000361675.7
    Conserved Domains (1) summary
    pfam02029
    Location:517780
    Caldesmon; Caldesmon
  3. NM_033139.3NP_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/Swiss-Prot
    Q05682
    Related
    ENSP00000376826.2, ENST00000393118.6
    Conserved Domains (1) summary
    pfam02029
    Location:282545
    Caldesmon; Caldesmon
  4. NM_033140.4NP_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/Swiss-Prot
    Q05682
    Related
    ENSP00000393621.1, ENST00000424922.5
    Conserved Domains (1) summary
    pfam02029
    Location:256519
    Caldesmon; Caldesmon
  5. NM_033157.4NP_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/Swiss-Prot
    Q05682
    Related
    ENSP00000395710.1, ENST00000422748.5
    Conserved Domains (1) summary
    pfam02029
    Location:288550
    Caldesmon; Caldesmon

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    134779629..134970729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012650.2XP_016868139.1  caldesmon isoform X1

    Conserved Domains (1) summary
    pfam02029
    Location:517779
    Caldesmon; Caldesmon
  2. XM_024446942.1XP_024302710.1  caldesmon isoform X2

    Conserved Domains (1) summary
    pfam02029
    Location:293551
    Caldesmon; Caldesmon
  3. XM_024446943.1XP_024302711.1  caldesmon isoform X4

    Conserved Domains (1) summary
    pfam02029
    Location:267524
    Caldesmon; Caldesmon
  4. XM_017012652.1XP_016868141.1  caldesmon isoform X3

    UniProtKB/Swiss-Prot
    Q05682
    UniProtKB/TrEMBL
    A0A140VKA0
    Conserved Domains (1) summary
    pfam02029
    Location:267525
    Caldesmon; Caldesmon
  5. XM_017012654.2XP_016868143.1  caldesmon isoform X5

RNA

  1. XR_002956488.1 RNA Sequence

  2. XR_001744877.2 RNA Sequence

  3. XR_002956489.1 RNA Sequence

  4. XR_002956490.1 RNA Sequence

  5. XR_001744880.2 RNA Sequence

  6. XR_927535.2 RNA Sequence

  7. XR_927541.2 RNA Sequence

  8. XR_927537.3 RNA Sequence

  9. XR_001744879.2 RNA Sequence

  10. XR_927542.3 RNA Sequence

    Related
    ENST00000443197.5
  11. XR_001744881.2 RNA Sequence

Support Center