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

Gene ID: 23373, updated on 2-Mar-2021

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
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
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

See CRTC1 in Genome Data Viewer
Location:
19p13.11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18683621..18782333)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18794490..18893143)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 155, pseudogene Neighboring gene kelch like family member 26 Neighboring gene uncharacterized LOC107985321 Neighboring gene cartilage oligomeric matrix protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
GeneReviews: Not available
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14027, KIAA0616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP response element binding protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP response element binding protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
energy homeostasis IEA
Inferred from Electronic Annotation
more info
 
entrainment of circadian clock by photoperiod ISS
Inferred from Sequence or Structural Similarity
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
negative regulation of membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of CREB transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendrite development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
postsynapse to nucleus signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IEA
Inferred from Electronic Annotation
more info
 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001098482.2NP_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/Swiss-Prot
    Q6UUV9
    Related
    ENSP00000345001.5, ENST00000338797.10
    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:575650
    TORC_C; Transducer of regulated CREB activity, C terminus
  2. NM_015321.3NP_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
    Q6UUV9
    Related
    ENSP00000323332.7, ENST00000321949.13
    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:148293
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:559634
    TORC_C; Transducer of regulated CREB activity, C terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18683621..18782333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259834.1XP_005259891.1  CREB-regulated transcription coactivator 1 isoform X3

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:148293
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:530605
    TORC_C; Transducer of regulated CREB activity, C terminus
  2. XM_024451434.1XP_024307202.1  CREB-regulated transcription coactivator 1 isoform X9

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:148293
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:421496
    TORC_C; Transducer of regulated CREB activity, C terminus
  3. XM_005259833.3XP_005259890.1  CREB-regulated transcription coactivator 1 isoform X1

    See identical proteins and their annotated locations for XP_005259890.1

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:546621
    TORC_C; Transducer of regulated CREB activity, C terminus
  4. XM_017026536.1XP_016882025.1  CREB-regulated transcription coactivator 1 isoform X4

  5. XM_017026537.1XP_016882026.1  CREB-regulated transcription coactivator 1 isoform X8

  6. XM_017026538.2XP_016882027.1  CREB-regulated transcription coactivator 1 isoform X10

  7. XM_011527842.3XP_011526144.1  CREB-regulated transcription coactivator 1 isoform X2

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:540615
    TORC_C; Transducer of regulated CREB activity, C terminus
  8. XM_005259835.3XP_005259892.1  CREB-regulated transcription coactivator 1 isoform X5

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:489564
    TORC_C; Transducer of regulated CREB activity, C terminus
  9. XM_005259836.3XP_005259893.1  CREB-regulated transcription coactivator 1 isoform X6

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:454529
    TORC_C; Transducer of regulated CREB activity, C terminus
  10. XM_006722710.3XP_006722773.1  CREB-regulated transcription coactivator 1 isoform X7

    Conserved Domains (3) summary
    pfam12884
    Location:666
    TORC_N; Transducer of regulated CREB activity, N terminus
    pfam12885
    Location:164309
    TORC_M; Transducer of regulated CREB activity middle domain
    pfam12886
    Location:437512
    TORC_C; Transducer of regulated CREB activity, C terminus

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.
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