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

Summary

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
Title: Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB504 (e-PCR)
- UniSTS:9251

CRTC1 (e-PCR)
- UniSTS:505743

A001X32 (e-PCR)
- UniSTS:44976

SHGC-79410 (e-PCR)
- UniSTS:183231

RH103403 (e-PCR)
- UniSTS:97729

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)

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18683680..18782333

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.