Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8732
Gene name Gene Name - the full gene name approved by the HGNC.
RNA guanylyltransferase and 5'-phosphatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNGTT
Synonyms (NCBI Gene) Gene synonyms aliases
CAP1A, HCE, HCE1, hCAP
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q15
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050539 hsa-miR-20a-5p CLASH 23622248
MIRT050338 hsa-miR-25-3p CLASH 23622248
MIRT1313927 hsa-miR-103a CLIP-seq
MIRT1313928 hsa-miR-107 CLIP-seq
MIRT1313929 hsa-miR-1253 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004484 Function MRNA guanylyltransferase activity IBA 21873635
GO:0004484 Function MRNA guanylyltransferase activity IDA 9473487
GO:0004651 Function Polynucleotide 5'-phosphatase activity TAS
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 25137142, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603512 10073 ENSG00000111880
Protein
UniProt ID O60942
Protein name mRNA-capping enzyme (HCAP1) (HCE) [Includes: mRNA 5'-triphosphate monophosphatase (EC 3.6.1.74) (mRNA 5'-phosphatase); mRNA guanylyltransferase (EC 2.7.7.50) (GTP--RNA guanylyltransferase) (GTase)]
Protein function Bifunctional mRNA-capping enzyme exhibiting RNA 5'-triphosphate monophosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-p
PDB 2C46 , 3S24 , 8P4A , 8P4B , 8P4C , 8P4D , 8P4E , 8W8E , 8W8F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00782 DSPc 46 179 Dual specificity phosphatase, catalytic domain Domain
PF01331 mRNA_cap_enzyme 272 460 mRNA capping enzyme, catalytic domain Domain
PF03919 mRNA_cap_C 464 559 mRNA capping enzyme, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 4 (at a lesser extent) are expressed in cerebrum, cerebellum, thyroid, lung, heart, liver, kidney, spleen, large intestine, testis, skin and muscle.
Sequence
Sequence length 597
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mRNA surveillance pathway   mRNA Capping
RNA Pol II CTD phosphorylation and interaction with CE
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 26621817
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
26621817
Colorectal neoplasms Colorectal Neoplasms, Malignant neoplasm of large intestine rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
26621817
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Lymphoma T Cell Associate 36000950
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 36000950