STBD1: Starch Binding Domain 1
A gene encoding a protein involved in glycogen metabolism and autophagy
Gene Information Card
| Symbol | STBD1 |
|---|---|
| Full Name | Starch Binding Domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 8987 ncbi.nlm.nih.gov/gene/8987 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | O95210 |
| OMIM ID | 615272 |
| HGNC ID | 24868 |
| Aliases | GENX-3414, starch binding domain containing protein 1 |
Description
STBD1 encodes a protein containing a starch-binding domain (CBM20) that binds glycogen and is involved in glycogen metabolism and autophagy. The protein localizes to the endoplasmic reticulum and lysosomes, facilitating glycogen delivery for autophagic degradation (glycophagy).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease (potential) | Impaired glycogen autophagy due to STBD1 dysfunction may contribute to glycogen accumulation | Inferred from functional studies (PMID: 21258367) |
| Danon disease (potential modifier) | STBD1 interacts with LAMP2 in glycogen autophagy; deficiency may exacerbate pathology | Inferred from interaction studies (PMID: 21258367) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Heart | 6.1 | Low |
| Brain | 2.4 | Not detected |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte line |
| SH-SY5Y | 3.1 | Neuroblastoma |
| HeLa | 7.8 | Cervical cancer |
| A549 | 5.4 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1015G>A (p.Gly339Ser) | Missense | <0.01% | Unknown; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • lysosome (GO:0005764) |
| • endoplasmic reticulum (GO:0005783) | • carbohydrate binding (GO:0030246) |
| • carbohydrate metabolic process (GO:0005975) | • macroautophagy (GO:0016236) |
Pathways
• Glycogen autophagy (glycophagy) - Reactome R-HSA-163285
• Lysosome - KEGG hsa04142
Protein Summary
STBD1 is a 339-amino acid protein with a C-terminal starch-binding domain (CBM20) that binds glycogen. It is anchored to the endoplasmic reticulum and lysosomal membranes, where it recruits glycogen for autophagic degradation. The protein is expressed in liver and muscle, tissues with high glycogen turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STBD1 Knockout HEK293 Cell Line | EDJ-KQ6422 | Human | 8987 | Details Get a Quote |
| STBD1 Knockout A-549 Cell Line | EDJ-KQ30473 | Human | 8987 | Details Get a Quote |
| STBD1 Knockout HCT 116 Cell Line | EDJ-KQ30474 | Human | 8987 | Details Get a Quote |
| STBD1 Knockout HeLa Cell Line | EDJ-KQ30475 | Human | 8987 | Details Get a Quote |
| FAM47E-STBD1 Knockout HEK293 Cell Line | EDJ-KQ52513 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout HeLa Cell Line | EDJ-KQ60978 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout A-549 Cell Line | EDJ-KQ69453 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout HCT 116 Cell Line | EDJ-KQ77804 | Human | 100631383 | Details Get a Quote |
