Stbd1 starch binding domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stbd1provided by MGI
Official Full Name: starch binding domain 1provided by MGI
Primary source: MGI:MGI:1261768
See related: Ensembl:ENSMUSG00000047963 AllianceGenome:MGI:1261768
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: D5Ertd593e; D530019K15Rik
Summary: Predicted to enable enzyme binding activity and glycogen binding activity. Involved in intracellular transport. Predicted to be located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. Predicted to be integral component of plasma membrane. Predicted to be active in membrane. Is expressed in several structures, including diaphragm; genitourinary system; jaw; nasal capsule; and ventral grey horn. Orthologous to human STBD1 (starch binding domain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E18 (RPKM 28.8), bladder adult (RPKM 10.3) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E2; 5 47.21 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (92750910..92754438)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (92603051..92606579)

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

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMPK-dependent phosphorylation of Gapex-5 (also known as GTPase-activating protein and VPS9 domain-containing protein 1 (GAPVD1)) on Ser902 in hepatocytes and starch-binding domain 1 (STBD1) on Ser175 in multiple cells/tissues
Title: Chemical genetic screen identifies Gapex-5/GAPVD1 and STBD1 as novel AMPK substrates.
mouse Stbd1 is a transmembrane endoplasmic reticulum (ER)-resident protein with the capacity to induce the formation of organized ER structures.
Title: Mouse Stbd1 is N-myristoylated and affects ER-mitochondria association and mitochondrial morphology.
results demonstrate that Stbd1 plays a dominant role in glycogen transport to lysosomes in liver and that the N-terminal transmembrane region and the C-terminal CBM20 domain are critical for this function.
Title: Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.
Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
Title: Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
Stbd1 is involved in glycogen metabolism by binding to glycogen and anchoring it to membranes, thereby affecting its cellular localization and its intracellular trafficking to lysosomes.
Title: Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolism.

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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
Endonuclease-mediated (2)

General gene information

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Markers

D5Ertd593e (e-PCR), detects polymorphism
- UniSTS:167453

NoName (e-PCR)
- UniSTS:493394

AU023005 (e-PCR)
- UniSTS:159397

NoName (e-PCR)
- UniSTS:235222

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables cargo receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables glycogen binding	ISO Inferred from Sequence Orthology more info
enables polysaccharide binding	ISO Inferred from Sequence Orthology more info
enables starch binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycogen catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycogen metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glycophagy	IC Inferred by Curator more info	PubMed
involved_in glycophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycophagy	ISO Inferred from Sequence Orthology more info
involved_in intracellular transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within substrate localization to autophagosome	IC Inferred by Curator more info	PubMed
involved_in substrate localization to autophagosome	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: starch-binding domain-containing protein 1

Names: genethonin 1; glycophagy cargo receptor stbd1

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)

NM_175096.3 → NP_780305.1 starch-binding domain-containing protein 1

See identical proteins and their annotated locations for NP_780305.1

Status: PROVISIONAL

Source sequence(s)

AK050416

Consensus CDS

CCDS19433.1

UniProtKB/Swiss-Prot

Q147T8, Q8C7E7

Related

ENSMUSP00000054322.4, ENSMUST00000050952.4

Conserved Domains (1) summary

cd05813
Location:244 → 338

CBM20_genethonin_1; Genethonin-1, C-terminal CBM20 (carbohydrate-binding module, family 20) domain. Genethonin-1 is a human skeletal muscle protein with no known function. It contains a C-terminal CBM20 domain. The CBM20 domain is found in a large number of starch ...