Version 5.4
Bos taurus Gene: C18H16orf57
Summary
InnateDB Gene IDBG-632762.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C18H16orf57
Gene Name UPF0406 protein C16orf57 homolog
Synonyms C16orf57; C18H16orf57
Species Bos taurus
Ensembl Gene ENSBTAG00000015758
Encoded Proteins
IDBP-684411
UPF0406 protein C16orf57 homolog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000103005:
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:25989856-26005157
Strand Forward strand
Band
Transcripts
ENSBTAT00000020923 ENSBTAP00000020923
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000175 3'-5'-exoribonuclease activity
GO:0003824 catalytic activity
GO:0004518 nuclease activity
GO:0016787 hydrolase activity
Biological Process
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0034477 U6 snRNA 3'-end processing
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000103005
View Gene Order
ENSMUSG00000031792
View Gene Order
Cross-References
SwissProt Q0II50
TrEMBL
UniProt Splice Variant
Entrez Gene 510934
UniGene Bt.11459
RefSeq NM_001075477 XM_005218530
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC122807
GenPept AAI22808
RNA Seq Atlas 510934

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca