STBD1 - starch binding domain 1 Gene

Homo sapiens

Also known as GENEX3414; GENX-3414

Gene ID: 8987 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13902	STBD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.