1. Gene
  2. SLC17A5 - solute carrier family 17 member 5 Gene

SLC17A5 - solute carrier family 17 member 5 Gene

Homo sapiens

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

Gene ID: 26503 | Gene type: protein coding

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

SLC17A5 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (47 - 441)

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  • 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

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