Spring1 SREBF pathway regulator in golgi 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spring1provided by MGI
Official Full Name: SREBF pathway regulator in golgi 1provided by MGI
Primary source: MGI:MGI:1924042
See related: Ensembl:ENSMUSG00000032840 AllianceGenome:MGI:1924042
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: Spring; 2410131K14Rik
Summary: Involved in positive regulation of SREBP signaling pathway. Predicted to be located in Golgi membrane. Is expressed in olfactory epithelium. Orthologous to human SPRING1 (SREBF pathway regulator in golgi 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 9.3), whole brain E14.5 (RPKM 8.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 58.32 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (118383292..118401179)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (118245227..118263114)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sterol-regulatory element binding proteins (SREBP) regulating gene (SPRING/C12ORF49) is a glycosylated Golgi membrane protein and its ablation reduces SREBP signaling. Spring deletion is embryonic lethal yet silencing of hepatic Spring expression attenuates the SREBP response. Attenuated SREBP signaling in SPRING(KO) cells results from reduced SREBP cleavage-activating protein (SCAP) and its mislocalization to the Golgi.
Title: Haploid genetic screens identify SPRING/C12ORF49 as a determinant of SREBP signaling and cholesterol metabolism.

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Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Gene trapped (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in positive regulation of SREBP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SREBP signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: SREBP regulating gene protein

Names: UPF0454 protein C12orf49 homolog

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.