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

Gene ID: 8732, updated on 29-Mar-2020

Summary

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
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
Expression
Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 5.3) and 24 other tissues See more
Orthologs

Genomic context

See RNGTT in Genome Data Viewer
Location:
6q15
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (88609897..88963618, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89319988..89673440, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377885 Neighboring gene uncharacterized LOC101928936 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3824 Neighboring gene CYCS pseudogene 16

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

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686J2031

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
RNA guanylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
mRNA guanylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA guanylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
polynucleotide 5'-phosphatase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine/serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
triphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
7-methylguanosine mRNA capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
7-methylguanosine mRNA capping IDA
Inferred from Direct Assay
more info
PubMed 
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
RNA processing IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
polynucleotide 5' dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
mRNA-capping enzyme
Names
HCAP1
NP_001273355.1
NP_001273357.1
NP_003791.3
XP_016866890.1
XP_016866891.1

NCBI Reference Sequences (RefSeq)

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_001286426.2NP_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/Swiss-Prot
    O60942
    UniProtKB/TrEMBL
    Q7Z3R6
    Related
    ENSP00000358487.4, ENST00000369475.7
    Conserved Domains (3) summary
    cd07895
    Location:248438
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    pfam03919
    Location:442535
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain
    cl21483
    Location:47143
    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 ...
  2. NM_001286428.2NP_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/Swiss-Prot
    O60942
    UniProtKB/TrEMBL
    B4DSJ8, Q7Z3R6
    Conserved Domains (3) summary
    cd07895
    Location:188378
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    pfam03919
    Location:382475
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain
    cl21483
    Location:1483
    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_003800.5NP_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
    O60942
    UniProtKB/TrEMBL
    Q7Z3R6
    Related
    ENSP00000358497.4, ENST00000369485.9
    Conserved Domains (3) summary
    cd07895
    Location:248461
    Adenylation_mRNA_capping; Adenylation domain of GTP-dependent mRNA capping enzymes
    pfam03919
    Location:465558
    mRNA_cap_C; mRNA capping enzyme, C-terminal domain
    cl21483
    Location:47143
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017011401.2XP_016866890.1  mRNA-capping enzyme isoform X1

  2. XM_017011402.2XP_016866891.1  mRNA-capping enzyme isoform X2

RNA

  1. XR_942617.3 RNA Sequence

  2. XR_001743703.2 RNA Sequence

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