U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CALD1 caldesmon 1 [ Homo sapiens (human) ]

Gene ID: 800, updated on 7-Jan-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CALD1 in Genome Data Viewer
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_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901750 Neighboring gene uncharacterized LOC124901751 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:134426881-134427534 Neighboring gene tubulin beta 3 class III pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:134469373-134469873 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:134529756-134530955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18675 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134622660-134622865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26701 Neighboring gene AGBL carboxypeptidase 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:134760279-134760886 Neighboring gene MPRA-validated peak6750 silencer Neighboring gene cell cycle regulator of NHEJ Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26706 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC21352

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 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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_029186.2 RefSeqGene

    Range
    39169..230264
    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/TrEMBL
    A0A140VKA0, B7Z6G4
    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
    A8K0X1, Q05682, Q13978, Q13979, Q14741, Q14742, Q9UD91
    Related
    ENSP00000354826.2, ENST00000361675.7
    Conserved Domains (1) summary
    pfam02029
    Location:517780
    Caldesmon; Caldesmon
  3. NM_033139.4NP_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: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/TrEMBL
    B7Z6G4
    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/TrEMBL
    B7Z6G4
    Related
    ENSP00000395710.1, ENST00000422748.5
    Conserved Domains (1) summary
    pfam02029
    Location:288550
    Caldesmon; Caldesmon

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    134745467..134970729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420865.1XP_047276821.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
  2. XM_047420867.1XP_047276823.1  caldesmon isoform X8

    UniProtKB/TrEMBL
    B7Z6G4
  3. XM_047420874.1XP_047276830.1  caldesmon isoform X13

    UniProtKB/TrEMBL
    A0A140VKA0, B7Z6G4
    Related
    ENSP00000398826.1, ENST00000417172.5
  4. XM_047420875.1XP_047276831.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
  5. XM_047420859.1XP_047276815.1  caldesmon isoform X1

  6. XM_047420871.1XP_047276827.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
    Related
    ENSP00000411476.2, ENST00000436461.6
  7. XM_017012650.3XP_016868139.1  caldesmon isoform X3

    Conserved Domains (1) summary
    pfam02029
    Location:517779
    Caldesmon; Caldesmon
  8. XM_024446942.2XP_024302710.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
    Conserved Domains (1) summary
    pfam02029
    Location:293551
    Caldesmon; Caldesmon
  9. XM_024446943.2XP_024302711.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
    Conserved Domains (1) summary
    pfam02029
    Location:267524
    Caldesmon; Caldesmon
  10. XM_047420858.1XP_047276814.1  caldesmon isoform X1

  11. XM_047420861.1XP_047276817.1  caldesmon isoform X2

  12. XM_047420864.1XP_047276820.1  caldesmon isoform X6

    UniProtKB/TrEMBL
    Q9NYG1
  13. XM_047420870.1XP_047276826.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
  14. XM_047420873.1XP_047276829.1  caldesmon isoform X12

    UniProtKB/TrEMBL
    Q9NYG1
  15. XM_047420866.1XP_047276822.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
  16. XM_017012652.2XP_016868141.1  caldesmon isoform X13

    UniProtKB/TrEMBL
    A0A140VKA0, B7Z6G4
    Conserved Domains (1) summary
    pfam02029
    Location:267525
    Caldesmon; Caldesmon
  17. XM_047420876.1XP_047276832.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
  18. XM_047420860.1XP_047276816.1  caldesmon isoform X1

  19. XM_047420872.1XP_047276828.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
  20. XM_047420863.1XP_047276819.1  caldesmon isoform X5

  21. XM_047420869.1XP_047276825.1  caldesmon isoform X10

    UniProtKB/TrEMBL
    B7Z6G4, E7EX44
    Related
    ENSP00000419673.1, ENST00000495522.1
  22. XM_017012654.3XP_016868143.1  caldesmon isoform X17

    UniProtKB/TrEMBL
    B7Z6G4
  23. XM_047420862.1XP_047276818.1  caldesmon isoform X4

  24. XM_047420868.1XP_047276824.1  caldesmon isoform X9

    UniProtKB/TrEMBL
    B7Z6G4
  25. XM_047420877.1XP_047276833.1  caldesmon isoform X15

    UniProtKB/TrEMBL
    B7Z6G4, E9PGZ1
    Related
    ENSP00000407522.1, ENST00000443197.5
  26. XM_047420878.1XP_047276834.1  caldesmon isoform X16

    UniProtKB/TrEMBL
    B7Z6G4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    136053098..136278520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359074.1XP_054215049.1  caldesmon isoform X13

    UniProtKB/TrEMBL
    A0A140VKA0, B7Z6G4
  2. XM_054359065.1XP_054215040.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
  3. XM_054359067.1XP_054215042.1  caldesmon isoform X8

    UniProtKB/TrEMBL
    B7Z6G4
  4. XM_054359077.1XP_054215052.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
  5. XM_054359057.1XP_054215032.1  caldesmon isoform X1

  6. XM_054359071.1XP_054215046.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
  7. XM_054359060.1XP_054215035.1  caldesmon isoform X3

  8. XM_054359064.1XP_054215039.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
  9. XM_054359076.1XP_054215051.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
  10. XM_054359056.1XP_054215031.1  caldesmon isoform X1

  11. XM_054359059.1XP_054215034.1  caldesmon isoform X2

  12. XM_054359063.1XP_054215038.1  caldesmon isoform X6

    UniProtKB/TrEMBL
    Q9NYG1
  13. XM_054359070.1XP_054215045.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
  14. XM_054359073.1XP_054215048.1  caldesmon isoform X12

    UniProtKB/TrEMBL
    Q9NYG1
  15. XM_054359075.1XP_054215050.1  caldesmon isoform X13

    UniProtKB/TrEMBL
    A0A140VKA0, B7Z6G4
  16. XM_054359066.1XP_054215041.1  caldesmon isoform X7

    UniProtKB/TrEMBL
    B7Z6G4
  17. XM_054359078.1XP_054215053.1  caldesmon isoform X14

    UniProtKB/TrEMBL
    B7Z6G4
  18. XM_054359058.1XP_054215033.1  caldesmon isoform X1

  19. XM_054359072.1XP_054215047.1  caldesmon isoform X11

    UniProtKB/TrEMBL
    Q9NYG1
  20. XM_054359062.1XP_054215037.1  caldesmon isoform X5

  21. XM_054359069.1XP_054215044.1  caldesmon isoform X10

    UniProtKB/TrEMBL
    B7Z6G4, E7EX44
  22. XM_054359081.1XP_054215056.1  caldesmon isoform X17

    UniProtKB/TrEMBL
    B7Z6G4
  23. XM_054359061.1XP_054215036.1  caldesmon isoform X4

  24. XM_054359068.1XP_054215043.1  caldesmon isoform X9

    UniProtKB/TrEMBL
    B7Z6G4
  25. XM_054359079.1XP_054215054.1  caldesmon isoform X15

    UniProtKB/TrEMBL
    B7Z6G4, E9PGZ1
  26. XM_054359080.1XP_054215055.1  caldesmon isoform X16

    UniProtKB/TrEMBL
    B7Z6G4