SLC5A6 - solute carrier family 5 member 6 Gene

Homo sapiens

Also known as SMVT; COMNB; NERIB; SMVTD

Gene ID: 8884 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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
635 a.a.

Protein Preferred Names

Protein Names

sodium-dependent multivitamin transporter

Na(+)-dependent multivitamin transporter

SLC5A6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SLC5A6	Q9Y289	PDZD11	Homo sapiens	Q5EBL8	Anti Tag CoIP	21183659

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13292	SLC5A6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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