Human Gene CABIN1 (uc002zzl.2) Description and Page Index
  Description: Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 1, mRNA.
RefSeq Summary (NM_001199281): 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 chr22:24,407,820-24,574,596 Size: 166,777 Total Exon Count: 37 Strand: +
Coding Region
   Position: hg19 chr22:24,431,966-24,574,164 Size: 142,199 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:24,407,820-24,574,596)mRNA (may differ from genome)Protein (2220 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Calcineurin-binding protein cabin-1; AltName: Full=Calcineurin inhibitor; Short=CAIN;
FUNCTION: May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals.
SUBUNIT: Component of a complex that includes at least ASF1A, CABIN1, HIRA, histone H3.3 and UBN1. Interacts with calcineurin. Interacts with MEF2B.
TISSUE SPECIFICITY: Widely expressed in different tissues.
PTM: Activated through PKC-mediated hyperphosphorylation. Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 6 TPR repeats.
SEQUENCE CAUTION: Sequence=BAA20788.2; Type=Erroneous initiation;

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -205.10433-0.474 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015134 - MEF2_binding
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF09047 - MEF2 binding

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9Y6J0
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004864 protein phosphatase inhibitor activity
GO:0031491 nucleosome binding

Biological Process:
GO:0006325 chromatin organization
GO:0006336 DNA replication-independent nucleosome assembly
GO:0007166 cell surface receptor signaling pathway
GO:0032515 negative regulation of phosphoprotein phosphatase activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0016235 aggresome

-  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.
AK307522 - Homo sapiens cDNA, FLJ97470.
BC013099 - Homo sapiens calcineurin binding protein 1, mRNA (cDNA clone IMAGE:4384607), with apparent retained intron.
BC028969 - Homo sapiens calcineurin binding protein 1, mRNA (cDNA clone IMAGE:4940637), partial cds.
BC041659 - Homo sapiens, Similar to calcineurin binding protein 1, clone IMAGE:5498366, 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

Reactome (by CSHL, EBI, and GO)

Protein Q9Y6J0 (Reactome details) participates in the following event(s):

R-HSA-3878123 Initiation of SAHF formation
R-HSA-4647594 SAHF formation
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF)
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-2559583 Cellular Senescence
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: CABIN_HUMAN, KIAA0330, NM_001199281, NP_036427, Q9Y460, Q9Y6J0
UCSC ID: uc002zzl.2
RefSeq Accession: NM_001199281
Protein: Q9Y6J0 (aka CABIN_HUMAN or CABI_HUMAN)
CCDS: CCDS13823.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001199281.1
exon count: 37CDS single in 3' UTR: no RNA size: 7528
ORF size: 6663CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 6738.00frame 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.