Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rtcbprovided by MGI
Official Full Name: RNA 2',3'-cyclic phosphate and 5'-OH ligaseprovided by MGI
Primary source: MGI:MGI:106379
See related: Ensembl:ENSMUSG00000001783 AllianceGenome:MGI:106379
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FAAP; HSPC117; D10Wsu52e
Summary: Predicted to enable RNA ligase (ATP) activity; RNA ligase (GTP) activity; and vinculin binding activity. Acts upstream of or within in utero embryonic development and placenta development. Located in endoplasmic reticulum membrane and nuclear envelope. Is expressed in several structures, including early conceptus; gonad; heart; liver; and placenta. Orthologous to human RTCB (RNA 2',3'-cyclic phosphate and 5'-OH ligase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 77.2), CNS E11.5 (RPKM 72.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 41.81 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (85774501..85793657, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (85938637..85957793, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RTCB deficiency triggers colitis in mice by influencing the NF-kappaB and Wnt/beta-catenin signaling pathways.
Title: RTCB deficiency triggers colitis in mice by influencing the NF-κB and Wnt/β-catenin signaling pathways.
The RNA ligase RNA terminal phosphate cyclase B regulates mRNA alternative splicing and is required for mouse oocyte development and maintenance.
Title: The RNA ligase RNA terminal phosphate cyclase B regulates mRNA alternative splicing and is required for mouse oocyte development and maintenance.
YY1 and RTCB in mouse uterine decidualization and embryo implantation.
Title: YY1 and RTCB in mouse uterine decidualization and embryo implantation.
This novel Faap20 mouse model may be valuable in studying the regulation of the FA pathway during bone marrow failure progress in FA patients.
Title: Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress.
RtcB is the long-sought RNA ligase that catalyzes unconventional RNA splicing during the mammalian UPR.
Title: A synthetic biology approach identifies the mammalian UPR RNA ligase RtcB.
D10Wsu52e may be related to the acinar development, adhesion and migration of progenitors and endocrine precursors.
Title: Spatiotemporal expression of D10Wsu52e in the developing mouse pancreas.
FAAP (D10Wsu52e) mRNA and protein expression are highly regionalized in the mouse epididymis with predominant enrichment in the initial segment; during sexual maturation, FAAP mRNA is always expressed in the caput epididymides
Title: Expression and regulation of FAAP in the mouse epididymis.
defects in HSPC117 expression may be an important contributing factor to loss of cloned nuclear transfer embryos in vivo.
Title: HSPC117 deficiency in cloned embryos causes placental abnormality and fetal death.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI463255 (e-PCR)
- UniSTS:160013

RH136031 (e-PCR)
- UniSTS:210026

BB370606 (e-PCR)
- UniSTS:208583

RH126544 (e-PCR)
- UniSTS:141530

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables RNA ligase (ATP) activity	ISO Inferred from Sequence Orthology more info
enables RNA ligase (GTP) activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables vinculin binding	IEA Inferred from Electronic Annotation more info
enables vinculin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA splicing, via endonucleolytic cleavage and ligation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA splicing, via endonucleolytic cleavage and ligation	ISO Inferred from Sequence Orthology more info
involved_in tRNA splicing, via endonucleolytic cleavage and ligation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of tRNA-splicing ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of tRNA-splicing ligase complex	ISO Inferred from Sequence Orthology more info
part_of tRNA-splicing ligase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: RNA-splicing ligase RtcB homolog

Names: 3'-phosphate/5'-hydroxy nucleic acid ligase; focal adhesion-associated protein; tRNA-splicing ligase RtcB homolog

NP_663397.1

EC 6.5.1.8

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.