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CALD1 caldesmon 1 [ Homo sapiens (human) ]

Gene ID: 800, updated on 8-Jan-2023

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
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Genomic context

See CALD1 in Genome Data Viewer
Location:
7q33
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134745467..134970729)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (136087297..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 tubulin beta 3 class III pseudogene 2 Neighboring gene AGBL carboxypeptidase 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

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

Homology

Clone Names

  • MGC21352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 

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/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, 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/Swiss-Prot
    Q05682
    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/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 110 details...Open this link in a new tab

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

  2. XM_047420867.1XP_047276823.1  caldesmon isoform X8

  3. XM_047420874.1XP_047276830.1  caldesmon isoform X13

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

  5. XM_047420859.1XP_047276815.1  caldesmon isoform X1

  6. XM_047420871.1XP_047276827.1  caldesmon isoform X11

    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

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

    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

  13. XM_047420870.1XP_047276826.1  caldesmon isoform X11

  14. XM_047420873.1XP_047276829.1  caldesmon isoform X12

  15. XM_047420866.1XP_047276822.1  caldesmon isoform X7

  16. XM_017012652.2XP_016868141.1  caldesmon isoform X13

    UniProtKB/Swiss-Prot
    Q05682
    UniProtKB/TrEMBL
    A0A140VKA0
    Conserved Domains (1) summary
    pfam02029
    Location:267525
    Caldesmon; Caldesmon
  17. XM_047420876.1XP_047276832.1  caldesmon isoform X14

  18. XM_047420860.1XP_047276816.1  caldesmon isoform X1

  19. XM_047420872.1XP_047276828.1  caldesmon isoform X11

  20. XM_047420863.1XP_047276819.1  caldesmon isoform X5

  21. XM_047420869.1XP_047276825.1  caldesmon isoform X10

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

  23. XM_047420862.1XP_047276818.1  caldesmon isoform X4

  24. XM_047420868.1XP_047276824.1  caldesmon isoform X9

  25. XM_047420877.1XP_047276833.1  caldesmon isoform X15

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    136087297..136278520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)