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SLC5A6 - solute carrier family 5 member 6 Gene

Also Known as SMVT; COMNB; NERIB; SMVTD

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8884

About SLC5A6

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,199,587-27,212,787 (from NCBI)

This gene has 18 transcripts (splice variants), 274 orthologues, 11 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 17.5), testis (RPKM 16.1) and 24 other tissues.

Summary

Enables biotin transmembrane transporter activity and pantothenate transmembrane transporter activity. Involved in anion transmembrane transport and transport across blood-brain barrier. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC5A6 Products (1)

mRNA	Protein	Name
NM_021095.4	NP_066918.2	sodium-dependent multivitamin transporter

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables biotin transmembrane transporter activity	IDA IDA: Inferred from direct assay	10329687	GOA
enables biotin transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	15561972	GOA
enables iodide transmembrane transporter activity	IDA IDA: Inferred from direct assay	20980265	GOA
enables pantothenate transmembrane transporter activity	IDA IDA: Inferred from direct assay	10329687	GOA
enables pantothenate transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	25809983	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21183659	GOA
enables vitamin transmembrane transporter activity	IDA IDA: Inferred from direct assay	10329687	GOA
enables vitamin transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	21570947	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in biotin import across plasma membrane	IDA IDA: Inferred from direct assay	21570947	GOA
involved in biotin import across plasma membrane	IMP IMP: Inferred from mutant phenotype	15561972	GOA
involved in biotin transport	IDA IDA: Inferred from direct assay	10329687	GOA
involved in biotin transport	IMP IMP: Inferred from mutant phenotype	21570947	GOA
involved in iodide transmembrane transport	IDA IDA: Inferred from direct assay	20980265	GOA
involved in pantothenate transmembrane transport	IDA IDA: Inferred from direct assay	10329687	GOA
involved in pantothenate transmembrane transport	IMP IMP: Inferred from mutant phenotype	25809983	GOA
involved in transport across blood-brain barrier	IMP IMP: Inferred from mutant phenotype	25809983	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in apical plasma membrane	IDA IDA: Inferred from direct assay	19211916	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	25809983	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

SLC5A6 Protein Structure

SSF

0
100
200
300
400
500
600
635 a.a.

Protein Preferred Names	Protein Names
sodium-dependent multivitamin transporter	Na(+)-dependent multivitamin transporter

SLC5A6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC5A6	Q9Y289	PDZD11	Homo sapiens	Q5EBL8	Anti Tag CoIP	21183659

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Sodium-Dependent Multivitamin Transporter Deficiency	Neurodegeneration, Infantile-Onset, Biotin-Responsive Smvt Deficiency NERIB SMVTD
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	COMNB
Biotin Deficiency	Biotin Deficiency Disease B7 Deficiency Biotan Vitamin Deficiency
Purulent Acute Otitis Media	Acute Suppurative Otitis Media Acute Or Subacute Suppurative Otitis Media Acute Or Subacute Purulent Otitis Media
Neurodegeneration With Brain Iron Accumulation 6	NBIA6 Copan Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation Coasy Protein-Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 6
Holocarboxylase Synthetase Deficiency	HLCS DEFICIENCY Early-Onset Multiple Carboxylase Deficiency Biotin- Ligase Deficiency Neonatal Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Neonatal Form Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency - Neonatal Onset Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Biotin-Responsive Mcd Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Mcd Mcd Neonatal Form
Herpes Simplex Virus Keratitis	Dendritic Keratitis Keratitis, Dendritic Keratitis, Herpetic
Thiamine Metabolism Dysfunction Syndrome 2	Biotin-Responsive Basal Ganglia Disease Basal Ganglia Disease, Biotin-Responsive THMD2 Bbgd Btbgd Encephalopathy, Thiamine-Responsive Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type Thiamine-Responsive Encephalopathy
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Beriberi	Thiamine Deficiency Vitamin B1 Deficiency Aneurin Deficiency Thiamine Vitamin Deficiency Beriberi Nos Beriberi Due To Vitamin B1 Deficiency Beriberi Due To Thiamine Vitamin Deficiency Kakkè
Placental Choriocarcinoma	Choriocarcinoma Of The Placenta
Thiamine Deficiency Disease
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13292	SLC5A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	SLC5A6	VGNC	VGNC:77614
Felis catus	SLC5A6	VGNC	VGNC:65404
Bos taurus	SLC5A6	VGNC	VGNC:34909
Rattus norvegicus	SLC5A6	RGD	RGD:69648
Mus musculus	SLC5A6	MGD	MGI:2660847
Canis familiaris	SLC5A6	VGNC	VGNC:46449
Others	SLC5A6	NCBI