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Resp18 regulated endocrine-specific protein 18 [ Mus musculus (house mouse) ]

Gene ID: 19711, updated on 21-Apr-2024

Summary

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Official Symbol
Resp18provided by MGI
Official Full Name
regulated endocrine-specific protein 18provided by MGI
Primary source
MGI:MGI:1098222
See related
Ensembl:ENSMUSG00000033061 AllianceGenome:MGI:1098222
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
This gene encodes a secreted protein that is expressed mainly in the peripheral endocrine and neuroendocrine tissues and is regulated by physiological factors that include blood glucose and dopaminergic drugs. The encoded protein is found in the lumen of the endoplasmic reticulum and is degraded in the post-ER pre-Golgi compartment. Gene knockout experiments in mice demonstrate that this gene is essential for embryonic development with embryonic lethality occurring before embryonic day 9.5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Expression
Biased expression in cerebellum adult (RPKM 45.2), CNS E18 (RPKM 32.5) and 9 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 C4; 1 38.65 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (75248841..75255059, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (75272197..75278415, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member B2 Neighboring gene protein tyrosine phosphatase receptor type N Neighboring gene VISTA enhancer mm1372 Neighboring gene aspartyl aminopeptidase Neighboring gene desmin upstream regulatory region Neighboring gene desmin Neighboring gene predicted gene 15179

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. RESP18 deficiency has protective effects in dopaminergic neurons in an MPTP mouse model of Parkinson's disease. Su J, et al. Neurochem Int, 2018 Sep. PMID 29964075
  2. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. Huang Y, et al. Neurotox Res, 2013 Aug. PMID 23319378
  3. Regulated endocrine-specific protein 18 (RESP18) is localized to and regulated in A-like cells and G-cells in rat stomach. Erlandsen SE, et al. Regul Pept, 2012 Aug 20. PMID 22561140
  4. Requirement of regulated endocrine-specific protein-18 for development and expression of regulated endocrine-specific protein-18 isoform c in mice. Liang M, et al. Mol Biol Rep, 2011 Apr. PMID 21104147
  5. RESP18, a homolog of the luminal domain IA-2, is found in dense core vesicles in pancreatic islet cells and is induced by high glucose. Zhang G, et al. J Endocrinol, 2007 Nov. PMID 17951542

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RESP18 deficiency protects dopaminergic neurons against an experimental model of Parkinson's disease.
    Title: RESP18 deficiency has protective effects in dopaminergic neurons in an MPTP mouse model of Parkinson's disease.
  2. Requirement of regulated endocrine-specific protein-18 for development and expression of regulated endocrine-specific protein-18 isoform c in mice.
    Title: Requirement of regulated endocrine-specific protein-18 for development and expression of regulated endocrine-specific protein-18 isoform c in mice.
  3. RESP18 is a luminal protein of DCVs and its expression is regulated by exposure to glucose.
    Title: RESP18, a homolog of the luminal domain IA-2, is found in dense core vesicles in pancreatic islet cells and is induced by high glucose.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
located_in rough endoplasmic reticulum lumen ISO
Inferred from Sequence Orthology
more info
  
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
regulated endocrine-specific protein 18

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_009049.2 → NP_033075.1  regulated endocrine-specific protein 18 precursor

    See identical proteins and their annotated locations for NP_033075.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC166150, AI838995, AK012477
    Consensus CDS
    CCDS15069.1
    UniProtKB/Swiss-Prot
    P47939
    Related
    ENSMUSP00000043783.5, ENSMUST00000039534.11
    Conserved Domains (1) summary
    pfam14948
    Location:37 → 128
    RESP18; RESP18 domain

RNA

  1. NR_138251.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI838995, BU604530, FJ621497

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    75248841..75255059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47939.1 GenPept UniProtKB/Swiss-Prot:P47939

Gene LinkOut

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

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