STBD1 - starch binding domain 1 Gene

Also Known as GENEX3414; GENX-3414

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8987

About STBD1

Cytogenetic location: 4q21.1 Genomic coordinates (GRCh38): 4:76,306,733-76,311,130 (from NCBI)

This gene has 1 transcript (splice variant) and 174 orthologues. Broad expression in fat (RPKM 72.0), liver (RPKM 33.4) and 18 other tissues.

Summary

Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

STBD1 Products (1)

mRNA	Protein	Name
NM_003943.5	NP_003934.1	starch-binding domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	24837458	GOA
enables glycogen binding	IDA IDA: Inferred from direct assay	20810658	GOA
enables polysaccharide binding	IDA IDA: Inferred from direct assay	24837458	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in glycogen catabolic process	IMP IMP: Inferred from mutant phenotype	20810658	GOA
involved in glycophagy	IMP IMP: Inferred from mutant phenotype	20810658	GOA
involved in intracellular transport	IGI IGI: Inferred from genetic interaction	27358407	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in T-tubule	IDA IDA: Inferred from direct assay	9794794	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	9794794	GOA
located in membrane	IDA IDA: Inferred from direct assay	20810658	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	20810658	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	9794794	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STBD1 Protein Structure

CBM_20

0
100
200
300
358 a.a.

Protein Preferred Names	Protein Names
starch-binding domain-containing protein 1	genethonin 1

STBD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	STBD1	O95210	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
Intra	STBD1	O95210	GABARAP	Homo sapiens	O95166	Pull Down	20562859
Intra	STBD1	O95210	GABARAP	Homo sapiens	O95166	Anti Tag CoIP	33961781
Intra	STBD1	O95210	GABARAP	Homo sapiens	O95166	Anti Tag CoIP	28514442
Intra	STBD1	O95210	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
Intra	STBD1	O95210	GABARAPL1	Homo sapiens	Q9H0R8	Anti Tag CoIP	33961781
Intra	STBD1	O95210	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859
Intra	STBD1	O95210	GABARAPL1	Homo sapiens	Q9H0R8	Anti Tag CoIP	28514442
Intra	STBD1	O95210	KASH5	Homo sapiens	Q8N6L0	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Capillary Malformations, Congenital	Familial Multiple Nevi Flammei Nevi Flammei, Familial Multiple CMC Port-Wine Stain Capillary Malformations Cmal Familial Multiple Port-Wine Stains Capillary Malformation Capillary Malformations, Congenital, 1, Somatic, Mosaic Congenital Capillary Malformations Port-Wine Stain Familial Multiple Hereditary Capillary Malformations Capillary Malformations, Hereditary Capillary Malformations, Congenital, Type 1, Somatic, Mosaic Strawberry Nevus Of Skin Naevus Flammeus
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13902	STBD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	STBD1	VGNC	VGNC:65766
Mus musculus	STBD1	MGD	MGI:1261768
Bos taurus	STBD1	VGNC	VGNC:35376
Rattus norvegicus	STBD1	RGD	RGD:1311800
Canis familiaris	STBD1	VGNC	VGNC:57413
Others	STBD1	NCBI