SLC17A5 - solute carrier family 17 member 5 Gene

Also Known as SD; AST; NSD; SLD; ISSD; SIASD; SIALIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26503

About SLC17A5

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:73,593,379-73,653,992 (from NCBI)

This gene has 2 transcripts (splice variants), 340 orthologues, 12 paralogues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 24.0), kidney (RPKM 11.9) and 24 other tissues.

Summary

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

SLC17A5 Products (9)

mRNA	Protein	Name
NM_001382629.1	NP_001369558.1	sialin isoform 2
NM_001382630.1	NP_001369559.1	sialin isoform 3
NM_001382631.1	NP_001369560.1	sialin isoform 4
NM_001382632.1	NP_001369561.1	sialin isoform 5
NM_001382633.1	NP_001369562.1	sialin isoform 6
NM_001382634.1	NP_001369563.1	sialin isoform 7
NM_001382635.1	NP_001369564.1	sialin isoform 8
NM_001382636.1	NP_001369565.1	sialin isoform 9
NM_012434.5	NP_036566.1	sialin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables sialic acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	10581036	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within sialic acid transport	IDA IDA: Inferred from direct assay	10581036	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosomal membrane	IDA IDA: Inferred from direct assay	3961501	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

SLC17A5 Protein Structure

MFS_1

0
100
200
300
400
495 a.a.

Protein Preferred Names	Protein Names
sialin	H(+)/nitrate cotransporter

Related Diseases

Diseases	Alias
Salla Disease	SD Sialuria, Finnish Type Finnish Type Sialuria Sialic Acid Storage Disease, Finnish Type
Infantile Sialic Acid Storage Disease	ISSD N-Acetylneuraminic Acid Storage Disease Sialic Acid Storage Disorder, Infantile Nana Storage Disease Nsd Infantile Sialic Acid Storage Disorder Sialuria, Infantile Form Free Sialic Acid Storage Disease, Infantile Form N-Acetylneuraminic Acid Storage Disease Sialuria Sialic Acid Storage Disease, Finnish Type
Free Sialic Acid Storage Disorders	Free Sialic Acid Storage Disease Sialic Acid Storage Disease N-Acetylneuraminic Acid Storage Disease Nana Storage Disease Lysosomal Free Sialic Acid Storage Disorders Sialuria, Finnish Type Sialuria Sialic Acid Storage Disease, Finnish Type
Intermediate Severe Salla Disease
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Rocky Mountain Spotted Fever	Brazillian Spotted Choix Exanthematic Typhus Of Sao Paulo Fiebre Maculosa Fiebre Manchada Sao Paulo Typhus So Paulo Fever Tick Typhus Tobia Fever Rmsf Typhus, Tick
Hepatitis	Chronic Hepatitis Chronic Persistent Hepatitis Acute Hepatitis Hepatitis, Chronic Acute And Subacute Liver Necrosis Acute/Subac. Necrosis Of Liver Animal Hepatitis Hepatitis Chronic Hepatitis A Hepatitis, Animal Hepatitis Due To Toxoplasmosis Hepatitis In Toxoplasmosis Toxoplasmal Hepatitis Chronic Hepatitis, Unspecified Chronic Active Hepatitis Nec Other Specified Chronic Hepatitis Chronic Persistent Hepatitis Nec Chronic Lobular Hepatitis Nec
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Fascioliasis	Fasciola Hepatica Infection Infection By Fasciola Sheep Liver Fluke Infection Liver Flukes Fasciola Infestation Sheep Liver Fluke Disease Liver Fluke Infestation Liver Flukes Nos Liver Fluke Infection Liver Fluke Disease
Obstructive Jaundice	Jaundice, Obstructive Cholestatic Jaundice Cholestatic Jaundice Syndrome Obstructive Hyperbilirubinemia Jaundice Obstructive Jaundice Cholestatic
Hellp Syndrome	Hemolysis, Elevated Liver Enzymes, Lowered Platelets Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet] Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
Scrub Typhus	Tsutsugamushi Disease Tsutsugamushi Fever Typhus Fever Due To Rickettsia Tsutsugamushi Chigger-Borne Rickettsiosis Chigger-Borne Typhus Japanese River Fever Kedani Fever Mite-Borne Rickettsiosis Mite-Borne Typhus Scrub Typhus Scrub Mite-Borne Typhus Tropical Typhus Tsutsugamushi
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Autoimmune Hepatitis	Aih Hepatitis, Autoimmune Autoimmune Chronic Active Hepatitis Autoimmune Hepatitis With Centrilobular Necrosis Autoimmune Chronic Hepatitis Hepatitis Autoimmune
Choledocholithiasis
Viral Hepatitis	Animal Viral Hepatitis Hepatitis, Viral, Animal Human Viral Hepatitis Viral Hepatitis With Hepatic Coma
Hepatitis B	Chronic Hepatitis B Hepatitis B Infection Serum Hepatitis HBV Hepatitis B Chronic Hbv, Susceptibility To Hepatitis B, Chronic Chronic Hepatitis B Without Delta Agent Chronic Hbv - [Hepatitis B Virus] Infection Hepatitis B Nos Chronic Type B Viral Hepatitis Hep B Nos
Hepatitis C	Chronic Hepatitis C Hepatitis C Infection Hepatitis Nona Nonb Nanbh Viral Hepatitis C Hepatitis C Chronic Hepatitis C, Chronic Chronic Type C Viral Hepatitis Chronic Hcv - [Hepatitis C Virus] Infection Hepatitis C Nos Hepatitis C Infection Nos Hepatitis C-Related Cirrhosis Type C Viral Hepatitis Hep C Nos
Hepatic Encephalopathy	Encephalopathy, Hepatic Portal-Systemic Encephalopathy Hepatoencephalopathy He - [Hepatic Encephalopathy] Hepatic Encephalopathy Nos Hepatic Encephalopathy, Stage Unspecified Hepatic Coma Hepatocerebral Encephalopathy Hepatocerebral Intoxication
Sialuria	Sialuria, French Type French Type Sialuria Sialuria French Type Sialic Acid Storage Disease Sialic Acid Storage Disease, Finnish Type Infantile Sialic Acid Storage Disease
Alcoholic Hepatitis	Acute Alcoholic Hepatitis Acute Alcoholic Liver Disease Hepatitis, Alcoholic Hepatitis Alcoholic Ah - [Alcoholic Hepatitis] Ethanol Hepatitis
Pyridoxine Deficiency	Vitamin B6 Deficiency Vitamin Deficiency, B6 Vitamin B 6 Deficiency Pyridoxal Deficiency Pyridoxamine Deficiency Vitamin B6 Deficiency Syndrome
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Spotted Fever	Spotted Fevers Spotted Fever Group Rickettsial Disease Tick-Borne Rickettsioses Tick-Borne Typhus Nos Rocky Mountain Spotted Fever Sao Paulo Fever Sao Paulo Typhus Lone Star Spotted Fever Colombian Spotted Fever American Spotted Fever Tick Typhus Due To Rickettsia Rickettsii Rocky Mountain Tick Fever Boutonneuse Fever Mediterranean Tick Fever Fièvre Boutonneuse Mediterranean Spotted Fever Tick Typhus Due To Rickettsia Conorii African Tick Typhus Indian Tick Typhus Kenya Tick Typhus North Asian Tick Fever Siberian Tick Typhus Tick Typhus Due To Rickettsia Siberica North Asian Spotted Fever Queensland Tick Typhus Queensland Fever
Kwashiorkor	Kwashiokor Nutritional Edema With Dyspigmentation Of Skin And Hair Nutritional Oedema With Dyspigmentation Of Skin And/Or Hair
Kidney Fibrosarcoma	Fibrosarcoma Of The Kidney
Hemochromatosis, Neonatal	Neonatal Hemochromatosis Nh Nhc Neonatal Hepatitis Alloimmune Hepatitis, Congenital Neonatal Hepatitis, Formerly Giant Cell Hepatitis, Formerly Giant Cell Hepatitis Hemochromatosis Neonatal Idiopathic Neonatal Hemochromatosis Hepatitis Neonatal
46,Xy Sex Reversal 1	SRXY1 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46,Xy Sex Reversal, Sry-Related Swyer Syndrome 46xy Sex Reversal 1 46,Xy Gonadal Dysgenesis Complete Sry-Related 46,Xy Sex Reversal Sry-Related 46,Xy True Hermaphroditism Sry-Related Gonadal Dysgenesis Xy Female Type Xy Females 46,Xy True Hermaphroditism, Sry-Related Gonadal Dysgenesis, 46,Xy 46, Xy Female
Analbuminemia	ANALBA Congenital Analbuminemia Hypoalbuminemia
Portal Hypertension	Hypertension, Portal Hypertension Portal Pht - [Portal Hypertension] Portal Htn
Hepatic Veno-Occlusive Disease	Veno-Occlusive Disease Sinusoidal Obstruction Syndrome Hepatic Venoocclusive Disease Venoocclusive Disease Hepatic Vein Thrombosis Budd-Chiari Syndrome Hepatic Vein Occlusion Veno-Occlusive Disease Of The Liver
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Histoplasmosis	Darling Disease Reticuloendotheliosis, X-Linked Infection By Histoplasma Capsulatum Histoplasma Infection Reticuloendothelial Cytomycosis Cytomycosis Darling Histoplasmosis African Histoplasmosis Histoplasmosis Duboisii
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Endometritis
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Mouth Disease	Mouth Diseases Mouth Disorders
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Panniculitis	Nodular Panniculitis
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Pericarditis
Gm1-Gangliosidosis, Type Iii	Gm1 Gangliosidosis Type 3 GM1G3 Gangliosidosis, Generalized Gm1, Type 3 Adult-Onset Gm1 Gangliosidosis Gangliosidosis Gm1 Type 3 Gangliosidosis Generalized Gm1 Chronic Type Gangliosidosis, Generalized Gm1, Adult Type Gangliosidosis, Generalized Gm1, Chronic Type Gangliosidosis, Generalized Gm1, Type Iii Adult Gm1 Gangliosidosis Beta-Galactosidase Deficiency Type 3 Gm1-Gangliosidosis 3 Gangliosidosis Generalized Gm1 Type 3 Gm1-Gangliosidosis Generalized Adult Type Gangliosidosis, Gm1 Type Iii
Fucosidosis	Alpha-L-Fucosidase Deficiency Fucosidase Deficiency Disease A-Fucosidase Deficiency Alpha Fucosidase Deficiency Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues Alpha-Fucosidase Deficiency Fucosidase Deficiency FUCA1D
Galactosialidosis	Goldberg Syndrome Neuraminidase Deficiency With Beta-Galactosidase Deficiency Ppca Deficiency GSL Lysosomal Protective Protein Deficiency Cathepsin A Deficiency Neuraminidase/Beta-Galactosidase Expression Protective Protein/Cathepsin A Deficiency Ngbe Cathepsin A Deficiency Of Lysosomal Protective Protein Deficiency Of Deficiency Of Cathepsin A Neuraminidase Beta-Galactosidase Deficiency Protective Protein Cathepsin A Deficiency
Hyperlipoproteinemia, Type Iii	Hyperlipoproteinemia Type Iii Broad-Betalipoproteinemia Floating-Betalipoproteinemia Familial Type 3 Hyperlipoproteinemia Broad Beta Disease Familial Hyperbeta- And Prebetalipoproteinemia Familial Hypercholesterolemia With Hyperlipemia Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis Coronary Artery Disease, Severe, Susceptibility To Coronary Artery Disease, Severe Hyperlipidemia Type 3 Familial Dysbetalipoproteinemia Hyperlipoproteinemia Type 3 Coronary Artery Disease Apolipoprotein E, Deficiency Or Defect Of Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D Carbohydrate Induced Hyperlipemia Familial Hypercholesterolaemia With Hyperlipaemia Remnant Hyperlipidemia Remnant Removal Disease Dysbetalipoproteinemia Broad-Beta Disease Familial Dyslipidemia Type 3 Hlp Type 3 Remnant Hyperlipoproteinemia Familial Hyperlipoproteinemia Type Iii CAD Hyperlipoproteinemia 3 HLPP3 Deficiency Or Defect Of Apolipoprotein E Dysbetalipoproteinemia Due To Defect In Apolipoprotein E Coronary Arteriosclerosis Coronary Heart Disease
Myopathy	Muscular Diseases Myopathies
Viral Infectious Disease	Viral Disease Arbovirus Infections Virus Infection Virus Diseases Viral Infection Viral Infections Virus Infections
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13038	SLC17A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC17A5	VGNC	VGNC:77405
Bos taurus	SLC17A5	VGNC	VGNC:34700
Felis catus	SLC17A5	VGNC	VGNC:65221
Rattus norvegicus	SLC17A5	RGD	RGD:1311388
Mus musculus	SLC17A5	MGD	MGI:1924105
Canis familiaris	SLC17A5	VGNC	VGNC:46250
Others	SLC17A5	NCBI