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CRTC1 CREB regulated transcription coactivator 1 [ Homo sapiens (human) ]

Gene ID: 23373, updated on 2-Nov-2024

Summary

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Official Symbol
CRTC1provided by HGNC
Official Full Name
CREB regulated transcription coactivator 1provided by HGNC
Primary source
HGNC:HGNC:16062
See related
Ensembl:ENSG00000105662 MIM:607536; AllianceGenome:HGNC:16062
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAML2; MECT1; Mam-2; TORC1; TORC-1; WAMTP1
Summary
Enables cAMP response element binding protein binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 4.7), testis (RPKM 2.0) and 24 other tissues See more
Orthologs
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Genomic context

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See CRTC1 in Genome Data Viewer
Location:
19p13.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18683680..18782333)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18818780..18917929)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18794490..18893143)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10414 Neighboring gene Sharpr-MPRA regulatory region 5939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18748277-18748791 Neighboring gene RNA, 7SL, cytoplasmic 155, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18758904-18759714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18759715-18760525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18762196-18762783 Neighboring gene kelch like family member 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768110-18768641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768642-18769172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18771679-18772215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18783189-18783923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18806569-18807467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18810877-18811723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18820620-18821614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18859933-18860916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18878537-18879414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18879415-18880291 Neighboring gene Sharpr-MPRA regulatory region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene cartilage oligomeric matrix protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. CRTC1 gene is differentially methylated in the human hippocampus in Alzheimer's disease. Mendioroz M, et al. Alzheimers Res Ther, 2016 Apr 19. PMID 27094739, Free PMC Article
  2. (Epi)genetic regulation of CRTC1 in human eating behaviour and fat distribution. Rohde K, et al. EBioMedicine, 2019 Jun. PMID 31153815, Free PMC Article
  3. Attenuation of TORC1 signaling delays replicative and oncogenic RAS-induced senescence. Kolesnichenko M, et al. Cell Cycle, 2012 Jun 15. PMID 22627671, Free PMC Article
  4. Psychotropic drug-induced genetic-epigenetic modulation of CRTC1 gene is associated with early weight gain in a prospective study of psychiatric patients. Delacrétaz A, et al. Clin Epigenetics, 2019 Dec 26. PMID 31878957, Free PMC Article
  5. CREB-regulated transcription coactivator 1-dependent transcription in Alzheimer's disease mice. Saura CA. Neurodegener Dis, 2012. PMID 22236576

See all (117) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Undifferentiated Round Cell Sarcoma With CRTC1::SS18 Fusion: Expanding Clinicopathologic Features of a Rare Translocation Sarcoma With Prominent Desmoplastic Stroma.
    Title: Undifferentiated Round Cell Sarcoma With CRTC1::SS18 Fusion: Expanding Clinicopathologic Features of a Rare Translocation Sarcoma With Prominent Desmoplastic Stroma.
  2. Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
    Title: Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
  3. Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases.
    Title: Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases.
  4. Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma.
    Title: Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma.
  5. Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
    Title: Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
  6. Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
    Title: Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
  7. The CRTC1-MAML2 fusion is the major oncogenic driver in mucoepidermoid carcinoma.
    Title: The CRTC1-MAML2 fusion is the major oncogenic driver in mucoepidermoid carcinoma.
  8. TORC1 selectively regulates synaptic maturation and input convergence in the developing visual system.
    Title: TORC1 selectively regulates synaptic maturation and input convergence in the developing visual system.
  9. Mycobacterium tuberculosis Rv3034c regulates mTORC1 and PPAR-gamma dependant pexophagy mechanism to control redox levels in macrophages.
    Title: Mycobacterium tuberculosis Rv3034c regulates mTORC1 and PPAR-γ dependant pexophagy mechanism to control redox levels in macrophages.
  10. Mislocalization of TORC1 to Lysosomes Caused by KIF11 Inhibition Leads to Aberrant TORC1 Activity.
    Title: Mislocalization of TORC1 to Lysosomes Caused by KIF11 Inhibition Leads to Aberrant TORC1 Activity.
Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
EBI GWAS Catalog
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14027, KIAA0616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cAMP response element binding protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cAMP response element binding protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cellular response to cAMP IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in energy homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in entrainment of circadian clock by photoperiod ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in memory IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homotetramerization IEA
Inferred from Electronic Annotation
more info
  
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
CREB-regulated transcription coactivator 1
Names
Mastermind-like protein 2
mucoepidermoid carcinoma translocated protein 1
transducer of regulated cAMP response element-binding protein (CREB) 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001098482.2 → NP_001091952.1  CREB-regulated transcription coactivator 1 isoform 3

    See identical proteins and their annotated locations for NP_001091952.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AB014516, AU118537, BC023614, BM680095, DB355148
    Consensus CDS
    CCDS42525.1
    UniProtKB/TrEMBL
    M0QX46
    Related
    ENSP00000345001.5, ENST00000338797.10
    Conserved Domains (3) summary
    pfam12884
    Location:6 → 66
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164 → 309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:575 → 650
    TORC_C; Transducer of regulated CREB activity, C terminus

  2. NM_015321.3 → NP_056136.2  CREB-regulated transcription coactivator 1 isoform 1

    See identical proteins and their annotated locations for NP_056136.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AB014516, AU118537, BC023614, BC028050, BM680095, DB355148
    Consensus CDS
    CCDS32963.1
    UniProtKB/Swiss-Prot
    A6NMG5, O75114, Q6UUV9, Q6Y3A3, Q7LDZ2, Q8IUL3, Q8IZ34, Q8IZL1, Q8N6W3, Q96AI8, Q9H801
    UniProtKB/TrEMBL
    M0QX46
    Related
    ENSP00000323332.7, ENST00000321949.13
    Conserved Domains (3) summary
    pfam12884
    Location:6 → 66
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:148 → 293
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:559 → 634
    TORC_C; Transducer of regulated CREB activity, C terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18683680..18782333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18818780..18917929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_025021.1: Suppressed sequence

    Description
    NM_025021.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UUV9.2 GenPept UniProtKB/Swiss-Prot:Q6UUV9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools