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RNGTT RNA guanylyltransferase and 5'-phosphatase [ Homo sapiens (human) ]

Gene ID: 8732, updated on 11-Apr-2024

Summary

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Official Symbol
RNGTTprovided by HGNC
Official Full Name
RNA guanylyltransferase and 5'-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:10073
See related
Ensembl:ENSG00000111880 MIM:603512; AllianceGenome:HGNC:10073
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
HCE; HCE1; hCAP; CAP1A
Summary
Enables mRNA guanylyltransferase activity and triphosphatase activity. Involved in 7-methylguanosine mRNA capping. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 5.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
6q15
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (88609897..88963618, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (89818328..90172178, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89319616..89673337, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377885 Neighboring gene uncharacterized LOC124901358 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89091597-89092538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24815 Neighboring gene uncharacterized LOC101928936 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:89239515-89240714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17381 Neighboring gene uncharacterized LOC124901521 Neighboring gene MPRA-validated peak5946 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24816 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89438317-89438876 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89439995-89440553 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89440554-89441112 Neighboring gene MPRA-validated peak5947 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:89536615-89537462 Neighboring gene MPRA-validated peak5948 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:89671756-89672682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24817 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:89673400-89673634 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:89682583-89683204 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89731277-89731892 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3824 Neighboring gene MPRA-validated peak5950 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:89767403-89767931 Neighboring gene adaptor related protein complex 4 subunit sigma 1 pseudogene Neighboring gene CYCS pseudogene 16

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
  • 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. The immunosuppressive agent mizoribine monophosphate is an inhibitor of the human RNA capping enzyme. Picard-Jean F, et al. PLoS One, 2013. PMID 23349942, Free PMC Article
  2. c-Myc deregulation induces mRNA capping enzyme dependency. Lombardi O, et al. Oncotarget, 2016 Dec 13. PMID 27756891, Free PMC Article
  3. Structure of the guanylyltransferase domain of human mRNA capping enzyme. Chu C, et al. Proc Natl Acad Sci U S A, 2011 Jun 21. PMID 21636784, Free PMC Article
  4. Tat stimulates cotranscriptional capping of HIV mRNA. Chiu YL, et al. Mol Cell, 2002 Sep. PMID 12408826
  5. Transcription elongation factor hSPT5 stimulates mRNA capping. Wen Y, et al. Genes Dev, 1999 Jul 15. PMID 10421630, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. c-Myc deregulation induces mRNA capping enzyme dependency in tumor cells.
    Title: c-Myc deregulation induces mRNA capping enzyme dependency.
  2. These results identify a new domain of CE that is specific to its function in cytoplasmic capping, and a new role for Nck1 in regulating gene expression through its role as the scaffold for assembly of the cytoplasmic capping complex.
    Title: The cytoplasmic capping complex assembles on adapter protein nck1 bound to the proline-rich C-terminus of Mammalian capping enzyme.
  3. Our biochemical studies provide the first insight that MZP can inhibit the formation of the RNA cap structure catalyzed by HCE.
    Title: The immunosuppressive agent mizoribine monophosphate is an inhibitor of the human RNA capping enzyme.
  4. Data show that human capping enzyme residues 229-567 comprise the minimum enzymatically active human GTase (hGTase) domain and determine the structure by X-ray crystallography.
    Title: Structure of the guanylyltransferase domain of human mRNA capping enzyme.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat interacts with mammalian capping enzyme (Mce1), stimulating its guanylyl-transferase and triphosphatase activities, thereby enhancing cap formation on TAR stem-loop RNA PubMed
tat HIV-1 Tat binding to mammalian capping enzyme (Mce1) is mediated through the C-terminal domain of Tat (amino acids 49-86) and amino acids 211-597 of Mce1 PubMed

Go to the HIV-1, Human Interaction Database

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

  • DKFZp686J2031

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA guanylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inorganic triphosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA 5'-triphosphate monophosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables mRNA guanylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mRNA guanylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables polynucleotide 5'-phosphatase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine/serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in 7-methylguanosine mRNA capping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 7-methylguanosine mRNA capping IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
  
involved_in RNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
mRNA-capping enzyme
Names
HCAP1
NP_001273355.1
NP_001273357.1
NP_003791.3
XP_047275398.1
XP_047275399.1
XP_054212620.1
XP_054212621.1

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_001286426.2 → NP_001273355.1  mRNA-capping enzyme isoform b

    See identical proteins and their annotated locations for NP_001273355.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AB009023, AI193199, BC019954, BP256840, BP396964, BX537450
    Consensus CDS
    CCDS69153.1
    UniProtKB/TrEMBL
    B2R623
    Related
    ENSP00000358487.4, ENST00000369475.7
    Conserved Domains (3) summary
    cd07895
    Location:248 → 438
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    cd17664
    Location:9 → 175
    Mce1_N; N-terminal triphosphatase domain of mRNA capping enzyme
    pfam03919
    Location:442 → 535
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain

  2. NM_001286428.2 → NP_001273357.1  mRNA-capping enzyme isoform c

    See identical proteins and their annotated locations for NP_001273357.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AI193199, AK299777, BC019954, BP396964, BX537450
    UniProtKB/TrEMBL
    B4DIQ0, B4DSJ8
    Conserved Domains (3) summary
    cd07895
    Location:188 → 378
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    pfam03919
    Location:382 → 475
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain
    cl21483
    Location:14 → 83
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

  3. NM_003800.5 → NP_003791.3  mRNA-capping enzyme isoform a

    See identical proteins and their annotated locations for NP_003791.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB009022, AI193199, BC019954, BP256840, BP396964, BX537450
    Consensus CDS
    CCDS5017.1
    UniProtKB/Swiss-Prot
    E1P513, E1P514, O43483, O60257, O60351, O60942, Q5TCW8, Q8WUM8
    UniProtKB/TrEMBL
    B2R623
    Related
    ENSP00000358497.4, ENST00000369485.9
    Conserved Domains (3) summary
    cd07895
    Location:248 → 461
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    cd17664
    Location:9 → 175
    Mce1_N; N-terminal triphosphatase domain of mRNA capping enzyme
    pfam03919
    Location:465 → 558
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    88609897..88963618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419443.1 → XP_047275399.1  mRNA-capping enzyme isoform X2

    Related
    ENSP00000442609.2, ENST00000538899.2

  2. XM_047419442.1 → XP_047275398.1  mRNA-capping enzyme isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    89818328..90172178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356646.1 → XP_054212621.1  mRNA-capping enzyme isoform X2

  2. XM_054356645.1 → XP_054212620.1  mRNA-capping enzyme isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60942.1 GenPept UniProtKB/Swiss-Prot:O60942

Gene LinkOut

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

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