• Gene id: 8987

Gene Summary

• Gene Symbol: STBD1   Gene   UCSC   Ensembl
• Aliases: GENEX3414, GENX-3414
• Gene name: starch binding domain 1
• Alternate names: starch-binding domain-containing protein 1, genethonin 1, glycophagy cargo receptor STBD1,
• Gene location: 4q21.1 (76306025: 76311129)     Exons: 2     NC_000004.12
• OMIM: 176872

Protein Summary

• Protein general information: O95210  
  • Name: Starch binding domain containing protein 1 (Genethonin 1) (Glycophagy cargo receptor STBD1)
  • Length: 358  
  • Mass: 39007
  • Tissue specificity: Expressed at high level in skeletal and cardiac muscles. Moderately expressed in liver and placenta. No expression is found in pancreas, kidney or lung. Present in skeletal muscle, heart and placenta (at protein level). {ECO
• Sequence:

  MGAVWSALLVGGGLAGALFVWLLRGGPGDTGKDGDAEQEKDAPLGGAAIPGGHQSGSSGLSPGPSGQELVTKPEH
  LQESNGHLISKTKDLGKLQAASWRLQNPSREVCDNSREHVPSGQFPDTEAPATSETSNSRSYSEVSRNESLESPM
  GEWGFQKGQEISAKAATCFAEKLPSSNLLKNRAKEEMSLSDLNSQDRVDHEEWEMVPRHSSWGDVGVGGSLKAPV
  LNLNQGMDNGRSTLVEARGQQVHGKMERVAVMPAGSQQVSVRFQVHYVTSTDVQFIAVTGDHECLGRWNTYIPLH
  YNKDGFWSHSIFLPADTVVEWKFVLVENGGVTRWEECSNRFLETGHEDKVVHAWWGIH

• Structural information:
  • Protein Domains: (258..35-)
    (/note="CBM20-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00594"-)
  • Interpro: IPR013784  IPR034838  IPR002044  IPR013783  
  • Prosite: PS51166
  • CDD: cd05813
  • STRING: ENSP00000237642
• Other Databases: GeneCards:  STBD1  Malacards:  STBD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030247	polysaccharide binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0030315	T-tubule	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0046907	intracellular transport	IGI	biological process
GO:2001069	glycogen binding	IEA	molecular function
GO:2001070	starch binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046907	intracellular transport	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0034045	phagophore assembly site membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005980	glycogen catabolic process	IMP	biological process
GO:0061723	glycophagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:2001069	glycogen binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R