Human Gene CRTC1 (ENST00000321949.13_8) from GENCODE V47lift37
  Description: CREB regulated transcription coactivator 1, transcript variant 1 (from RefSeq NM_015321.3)
Gencode Transcript: ENST00000321949.13_8
Gencode Gene: ENSG00000105662.16_12
Transcript (Including UTRs)
   Position: hg19 chr19:18,794,490-18,893,143 Size: 98,654 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr19:18,794,513-18,888,192 Size: 93,680 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,794,490-18,893,143)mRNA (may differ from genome)Protein (634 aa)
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-  Comments and Description Text from UniProtKB
  ID: CRTC1_HUMAN
DESCRIPTION: RecName: Full=CREB-regulated transcription coactivator 1; AltName: Full=Mucoepidermoid carcinoma translocated protein 1; AltName: Full=Transducer of regulated cAMP response element-binding protein 1; Short=TORC-1; Short=Transducer of CREB protein 1;
FUNCTION: Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR). In the hippocampus, involved in late-phase long- term potentiation (L-LTP) maintenance at the Schaffer collateral- CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity).
SUBUNIT: Binds, as a tetramer, through its N-terminal region, with the bZIP domain of CREB1. 'Arg-314' in the bZIP domain of CREB1 is essential for this interaction. Interaction, via its C-terminal, with TAF4, enhances recruitment of TAF4 to CREB1. Binds HTLV1 Tax.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic when phosphorylated by SIK or AMPK and when sequestered by 14-3-3 proteins (By similarity). Translocated to the nucleus on Ser-151 dephosphorylation, instigated by a number of factors including calcium ion and cAMP levels.
TISSUE SPECIFICITY: Highly expressed in adult and fetal brain. Located to specific regions such as the prefrontal cortex and cerebellum. Very low expression in other tissues such as heart, spleen, lung, skeletal muscle, salivary gland, ovary and kidney.
PTM: Phosphorylation/dephosphorylation states of Ser-151 are required for regulating transduction of CREB activity. TORCs are inactive when phosphorylated, and active when dephosphorylated at this site. This primary site of phosphorylation is mediated by SIKs (SIK1 and SIK2), is regulated by cAMP and calcium levels and is dependent on the phosphorylation of SIKs by LKB1 (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Note=A chromosomal aberration involving CRTC1 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with MAML2. The fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas.
SIMILARITY: Belongs to the TORC family.
SEQUENCE CAUTION: Sequence=AAH17075.3; Type=Erroneous initiation; Sequence=AAH23614.2; Type=Erroneous initiation; Sequence=AAP12463.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CRTC1ID471ch19p13.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CRTC1
Diseases sorted by gene-association score: mucoepidermoid carcinoma (39), clear cell hidradenoma (11), cutaneous mucoepidermoid carcinoma (10), hidradenoma (6), lacrimal gland mucoepidermoid carcinoma (5), human t-cell leukemia virus type 1 (5), warthin tumor (3), schneiderian carcinoma (3), salivary gland cancer (2), lipoadenoma (2), cervical adenosquamous carcinoma (2), oral cavity cancer (2), necrotizing sialometaplasia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 59.10 RPKM in Brain - Cerebellum
Total median expression: 470.92 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 0.00230.000 Picture PostScript Text
3' UTR -2250.104951-0.454 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
IPR024786 - TORC
IPR024785 - TORC_C
IPR024784 - TORC_M
IPR024783 - TORC_N

Pfam Domains:
PF12884 - Transducer of regulated CREB activity, N terminus
PF12885 - Transducer of regulated CREB activity middle domain
PF12886 - Transducer of regulated CREB activity, C terminus

ModBase Predicted Comparative 3D Structure on Q6UUV9
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-  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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
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    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008140 cAMP response element binding protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007613 memory
GO:0016032 viral process
GO:0032793 positive regulation of CREB transcription factor activity
GO:0043153 entrainment of circadian clock by photoperiod
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process
GO:0051289 protein homotetramerization
GO:0097009 energy homeostasis
GO:1900006 positive regulation of dendrite development
GO:1900273 positive regulation of long-term synaptic potentiation
GO:1902631 negative regulation of membrane hyperpolarization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016604 nuclear body
GO:0030425 dendrite
GO:0043025 neuronal cell body
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  AK024089 - Homo sapiens cDNA FLJ14027 fis, clone HEMBA1003827.
AY040323 - Homo sapiens mucoepidermoid susceptibility protein (MECT1) mRNA, complete cds.
AY360171 - Homo sapiens transducer of regulated CREB protein 1 (TORC1) mRNA, complete cds.
BC028050 - Homo sapiens CREB regulated transcription coactivator 1, mRNA (cDNA clone MGC:39876 IMAGE:4938995), complete cds.
AB527764 - Synthetic construct DNA, clone: pF1KB9936, Homo sapiens CRTC1 gene for CREB regulated transcription coactivator 1, without stop codon, in Flexi system.
DQ893310 - Synthetic construct clone IMAGE:100005940; FLH168838.01X; RZPDo839D0994D CREB regulated transcription coactivator 1 (CRTC1) gene, encodes complete protein.
DQ894228 - Synthetic construct Homo sapiens clone IMAGE:100008688; FLH168834.01L; RZPDo839D0993D CREB regulated transcription coactivator 1 (CRTC1) gene, encodes complete protein.
KJ898478 - Synthetic construct Homo sapiens clone ccsbBroadEn_07872 CRTC1 gene, encodes complete protein.
AB014516 - Homo sapiens mRNA for KIAA0616 protein, partial cds.
BC023614 - Homo sapiens CREB regulated transcription coactivator 1, mRNA (cDNA clone IMAGE:4646599), partial cds.
BC017075 - Homo sapiens CREB regulated transcription coactivator 1, mRNA (cDNA clone IMAGE:3846137), partial cds.
CU677825 - Synthetic construct Homo sapiens gateway clone IMAGE:100021171 5' read CRTC1 mRNA.
KJ905432 - Synthetic construct Homo sapiens clone ccsbBroadEn_15010 CRTC1 gene, encodes complete protein.
JD222588 - Sequence 203612 from Patent EP1572962.
JD178375 - Sequence 159399 from Patent EP1572962.
JD340114 - Sequence 321138 from Patent EP1572962.
JD340118 - Sequence 321142 from Patent EP1572962.
JD340123 - Sequence 321147 from Patent EP1572962.
JD178383 - Sequence 159407 from Patent EP1572962.
JD340132 - Sequence 321156 from Patent EP1572962.
CU688378 - Synthetic construct Homo sapiens gateway clone IMAGE:100019968 5' read CRTC1 mRNA.
AY186998 - Homo sapiens MAML2-WAMTP1 reciprocal fusion protein mRNA, partial cds.
JD354266 - Sequence 335290 from Patent EP1572962.
JD320694 - Sequence 301718 from Patent EP1572962.
JD425197 - Sequence 406221 from Patent EP1572962.
JD143192 - Sequence 124216 from Patent EP1572962.
JD478312 - Sequence 459336 from Patent EP1572962.
JD554946 - Sequence 535970 from Patent EP1572962.
JD144497 - Sequence 125521 from Patent EP1572962.
JD335634 - Sequence 316658 from Patent EP1572962.
JD519816 - Sequence 500840 from Patent EP1572962.
JD480533 - Sequence 461557 from Patent EP1572962.
JD466769 - Sequence 447793 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NMG5, CRTC1 , CRTC1_HUMAN, ENST00000321949.1, ENST00000321949.10, ENST00000321949.11, ENST00000321949.12, ENST00000321949.2, ENST00000321949.3, ENST00000321949.4, ENST00000321949.5, ENST00000321949.6, ENST00000321949.7, ENST00000321949.8, ENST00000321949.9, KIAA0616 , MECT1 , NM_015321, O75114, Q6UUV9, Q6Y3A3, Q7LDZ2, Q8IUL3, Q8IZ34, Q8IZL1, Q8N6W3, Q96AI8, Q9H801, TORC1 , uc317reg.1, uc317reg.2, WAMTP1
UCSC ID: ENST00000321949.13_8
RefSeq Accession: NM_015321.3
Protein: Q6UUV9 (aka CRTC1_HUMAN)

-  Gene Model Information
  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.