Human Gene CABIN1 (uc010gul.1) Description and Page Index
  Description: Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 3, mRNA.
RefSeq Summary (NM_001201429): Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011].
Transcript (Including UTRs)
   Position: hg19 chr22:24,567,681-24,574,596 Size: 6,916 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr22:24,567,945-24,574,164 Size: 6,220 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:24,567,681-24,574,596)mRNA (may differ from genome)Protein (158 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsH-INVHGNC
LynxMGIPubMedStanford SOURCEWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CABIN1
CDC HuGE Published Literature: CABIN1
Positive Disease Associations: Heart Failure
Related Studies:
  1. Heart Failure
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CABIN1
Diseases sorted by gene-association score: complication after organ transplantation (18), spinal cord lymphoma (15), lymphocele (11), invasive aspergillosis (11), ischemic neuropathy (10), epidermolytic acanthoma (7), pain disorder (7), pericardial tuberculosis (6), adult lymphoma (6), thrombotic thrombocytopenic purpura, acquired (5), acute kidney tubular necrosis (5), arteriolosclerosis (5), seborrheic dermatitis (5), polyposis, skin pigmentation, alopecia, and fingernail changes (5), neurodermatitis (4), somatoform disorder (4), critical illness polyneuropathy (4), urinary system disease (1)

-  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: 29.77 RPKM in Brain - Cerebellum
Total median expression: 631.23 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 -80.30264-0.304 Picture PostScript Text
3' UTR -173.82432-0.402 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.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AF072441 - Homo sapiens calcineurin binding protein cabin 1 mRNA, complete cds.
BC054497 - Homo sapiens calcineurin binding protein 1, mRNA (cDNA clone MGC:57499 IMAGE:4521929), complete cds.
AB002328 - Homo sapiens mRNA for KIAA0330 gene.
AB384461 - Synthetic construct DNA, clone: pF1KA0330, Homo sapiens CABIN gene for calcineurin-binding protein Cabin 1, complete cds, without stop codon, in Flexi system.
BC021929 - Homo sapiens, Similar to calcineurin binding protein 1, clone IMAGE:4869615, mRNA, partial cds.
AL390166 - Homo sapiens mRNA; cDNA DKFZp762G2015 (from clone DKFZp762G2015).
AK127950 - Homo sapiens cDNA FLJ46060 fis, clone TBAES2003702.
JD539763 - Sequence 520787 from Patent EP1572962.
JD190597 - Sequence 171621 from Patent EP1572962.
JD100487 - Sequence 81511 from Patent EP1572962.
JD108897 - Sequence 89921 from Patent EP1572962.
JD389596 - Sequence 370620 from Patent EP1572962.
JD474979 - Sequence 456003 from Patent EP1572962.
JD322011 - Sequence 303035 from Patent EP1572962.
JD161176 - Sequence 142200 from Patent EP1572962.
JD368751 - Sequence 349775 from Patent EP1572962.
JD472986 - Sequence 454010 from Patent EP1572962.
JD429435 - Sequence 410459 from Patent EP1572962.
JD119054 - Sequence 100078 from Patent EP1572962.
JD159168 - Sequence 140192 from Patent EP1572962.
JD541036 - Sequence 522060 from Patent EP1572962.
JD521848 - Sequence 502872 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)
h_mef2dPathway - Role of MEF2D in T-cell Apoptosis

-  Other Names for This Gene
  Alternate Gene Symbols: AL390166
UCSC ID: uc010gul.1
RefSeq Accession: NM_001201429

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AL390166.1
exon count: 3CDS single in 3' UTR: no RNA size: 2270
ORF size: 477CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 647.00frame shift in genome: no % Coverage: 51.32
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.