Human Gene CALM1 (uc010atq.2) Description and Page Index
  Description: Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), mRNA.
RefSeq Summary (NM_005184): This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016].
Transcript (Including UTRs)
   Position: hg19 chr14:90,863,327-90,874,619 Size: 11,293 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr14:90,865,426-90,871,061 Size: 5,636 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:90,863,327-90,874,619)mRNA (may differ from genome)Protein (150 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7ETZ0_HUMAN
DESCRIPTION: SubName: Full=Calmodulin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CALM1
CDC HuGE Published Literature: CALM1
Positive Disease Associations: osteoarthritis , Triglycerides , Waist-Hip Ratio
Related Studies:
  1. osteoarthritis
    Mototani, H. et al. 2005, A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese., Human molecular genetics. 2005 Apr;14(8):1009-17. [PubMed 15746150]
    These results suggest that the transcriptional level of CALM1 is associated with susceptibility for hip OA through modulation of chondrogenic activity. Our findings reveal the CALM1-mediated signaling pathway in chondrocytes as a novel potential target for treatment of OA.
  2. Triglycerides
    , , . [PubMed 0]
  3. Waist-Hip Ratio
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CALM1
Diseases sorted by gene-association score: long qt syndrome 14* (1330), ventricular tachycardia, catecholaminergic polymorphic, 4* (830), catecholaminergic polymorphic ventricular tachycardia* (183), calm1-related catecholaminergic polymorphic ventricular tachycardia* (100), long qt syndrome 1* (94), cardiac arrest (16), long qt syndrome (13), otomycosis (11), external ear disease (11), pertussis (10), cardiomyopathy, dilated, 1p (10), otitis externa (9), leber congenital amaurosis 2 (9), idiopathic scoliosis (8), acute dacryocystitis (8), long qt syndrome 15 (7), primary cutaneous amyloidosis (7), deafness, autosomal recessive 44 (7), primary systemic mycosis (7), sporotrichosis (7), hemolytic anemia due to triosephosphate isomerase deficiency (7), adolescent idiopathic scoliosis (7), dystonia 24 (6), spontaneous ocular nystagmus (6), syncope (6), myotonia (6), gestational choriocarcinoma (5), cardiomyopathy, dilated, 1a (5), proliferative fasciitis (4), clear cell acanthoma (4), low compliance bladder (4), deafness, autosomal dominant 2a (4), scoliosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 574.14 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 8042.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -139.32342-0.407 Picture PostScript Text
3' UTR -1059.073558-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR001125 - Recoverin

Pfam Domains:
PF00036 - EF hand
PF08726 - Ca2+ insensitive EF hand
PF12763 - Cytoskeletal-regulatory complex EF hand
PF13202 - EF hand
PF13405 - EF-hand domain
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair
PF14658 - EF-hand domain

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on E7ETZ0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding


-  Descriptions from all associated GenBank mRNAs
  JC051453 - Sequence 5 from Patent WO2013153214.
JC051457 - Sequence 9 from Patent WO2013153214.
JC051460 - Sequence 12 from Patent WO2013153214.
BC011834 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:20018 IMAGE:3942245), complete cds.
BC047523 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone IMAGE:4819353).
AH005375 - Homo sapiens Human calmodulin-I (CALM1) mRNA, 5'UTR, partial sequence.
BC000454 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:8460 IMAGE:2821489), complete cds.
BC008597 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:17489 IMAGE:3452971), complete cds.
AK289937 - Homo sapiens cDNA FLJ75174 complete cds, highly similar to Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA.
M27319 - Human calmodulin mRNA, complete cds.
L37715 - Homo sapiens (clone 22) macronuclear mRNA.
JD187146 - Sequence 168170 from Patent EP1572962.
JD466811 - Sequence 447835 from Patent EP1572962.
AY189287 - Homo sapiens LP7057 protein mRNA, complete cds.
BC007965 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:14464 IMAGE:4308380), complete cds.
BT006818 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta) mRNA, complete cds.
KJ896533 - Synthetic construct Homo sapiens clone ccsbBroadEn_05927 CALM1 gene, encodes complete protein.
KJ905153 - Synthetic construct Homo sapiens clone ccsbBroadEn_14558 CALM1 gene, encodes complete protein.
KJ904427 - Synthetic construct Homo sapiens clone ccsbBroadEn_13821 CALM1 gene, encodes complete protein.
JD097116 - Sequence 78140 from Patent EP1572962.
BX537677 - Homo sapiens mRNA; cDNA DKFZp686K05204 (from clone DKFZp686K05204).
DL491437 - Novel nucleic acids.
DL490058 - Novel nucleic acids.
JD360025 - Sequence 341049 from Patent EP1572962.
JD341250 - Sequence 322274 from Patent EP1572962.
BX648223 - Homo sapiens mRNA; cDNA DKFZp779O0624 (from clone DKFZp779O0624).
JD566375 - Sequence 547399 from Patent EP1572962.
JD042486 - Sequence 23510 from Patent EP1572962.
JD352155 - Sequence 333179 from Patent EP1572962.
JD469806 - Sequence 450830 from Patent EP1572962.
JD044779 - Sequence 25803 from Patent EP1572962.
JD496726 - Sequence 477750 from Patent EP1572962.
JD231650 - Sequence 212674 from Patent EP1572962.
JD528541 - Sequence 509565 from Patent EP1572962.
JD236021 - Sequence 217045 from Patent EP1572962.
JD521599 - Sequence 502623 from Patent EP1572962.
JD379074 - Sequence 360098 from Patent EP1572962.
JD499261 - Sequence 480285 from Patent EP1572962.
JD190122 - Sequence 171146 from Patent EP1572962.
JD382631 - Sequence 363655 from Patent EP1572962.
JD231440 - Sequence 212464 from Patent EP1572962.
JD492420 - Sequence 473444 from Patent EP1572962.
JD204696 - Sequence 185720 from Patent EP1572962.
JD227408 - Sequence 208432 from Patent EP1572962.
JD038832 - Sequence 19856 from Patent EP1572962.
JD235715 - Sequence 216739 from Patent EP1572962.
JD245259 - Sequence 226283 from Patent EP1572962.
JD038095 - Sequence 19119 from Patent EP1572962.
JD193728 - Sequence 174752 from Patent EP1572962.
JD243808 - Sequence 224832 from Patent EP1572962.
JD328281 - Sequence 309305 from Patent EP1572962.
JD434418 - Sequence 415442 from Patent EP1572962.
JD126366 - Sequence 107390 from Patent EP1572962.
JD109870 - Sequence 90894 from Patent EP1572962.
JD264245 - Sequence 245269 from Patent EP1572962.
JD082393 - Sequence 63417 from Patent EP1572962.
BC042831 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone IMAGE:5301034).
JD201994 - Sequence 183018 from Patent EP1572962.
JD026942 - Sequence 7966 from Patent EP1572962.
JD029032 - Sequence 10056 from Patent EP1572962.
JD374934 - Sequence 355958 from Patent EP1572962.
JD279983 - Sequence 261007 from Patent EP1572962.
JD495556 - Sequence 476580 from Patent EP1572962.
JD494334 - Sequence 475358 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04114 - Oocyte meiosis
hsa04270 - Vascular smooth muscle contraction
hsa04720 - Long-term potentiation
hsa04722 - Neurotrophin signaling pathway
hsa04740 - Olfactory transduction
hsa04744 - Phototransduction
hsa04910 - Insulin signaling pathway
hsa04912 - GnRH signaling pathway
hsa04916 - Melanogenesis
hsa05010 - Alzheimer's disease
hsa05214 - Glioma

BioCarta from NCI Cancer Genome Anatomy Project
h_At1rPathway - Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling
h_fMLPpathway - fMLP induced chemokine gene expression in HMC-1 cells
h_gpcrPathway - Signaling Pathway from G-Protein Families
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)
h_pyk2Pathway - Links between Pyk2 and Map Kinases
h_Ccr5Pathway - Pertussis toxin-insensitive CCR5 Signaling in Macrophage
h_gcrPathway - Corticosteroids and cardioprotection
h_no1Pathway - Actions of Nitric Oxide in the Heart
h_mef2dPathway - Role of MEF2D in T-cell Apoptosis
h_biopeptidesPathway - Bioactive Peptide Induced Signaling Pathway
h_nos1Pathway - Nitric Oxide Signaling Pathway
h_pgc1aPathway - Regulation of PGC-1a
h_vipPathway - Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells
h_tcrPathway - T Cell Receptor Signaling Pathway
h_bcrPathway - BCR Signaling Pathway
h_calcineurinPathway - Effects of calcineurin in Keratinocyte Differentiation
h_ndkDynaminPathway - Endocytotic role of NDK, Phosphins and Dynamin
h_CaCaMPathway - Ca++/ Calmodulin-dependent Protein Kinase Activation
h_fcer1Pathway - Fc Epsilon Receptor I Signaling in Mast Cells
h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

-  Other Names for This Gene
  Alternate Gene Symbols: AK289937, E7ETZ0, E7ETZ0_HUMAN, NM_005184, NP_005175
UCSC ID: uc010atq.2
RefSeq Accession: NM_005184
Protein: E7ETZ0 CCDS: CCDS9892.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CALM1:
cvt (Catecholaminergic Polymorphic Ventricular Tachycardia)
rws (Long QT Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK289937.1
exon count: 7CDS single in 3' UTR: no RNA size: 1000
ORF size: 453CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 950.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.