SLC35A3 - solute carrier family 35 member A3 Gene

Homo sapiens

Also known as AMRS

Gene ID: 23443 | Gene type: protein coding

About SLC35A3

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:99,969,996-100,035,634 (from NCBI)

This gene has 24 transcripts (splice variants), 256 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in colon (RPKM 21.3), duodenum (RPKM 16.3) and 24 other tissues.

Summary

This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SLC35A3 Products(3)

mRNA	Protein	Name
NM_001271684.2	NP_001258613.1	UDP-N-acetylglucosamine transporter isoform 2
NM_001271685.2	NP_001258614.1	UDP-N-acetylglucosamine transporter isoform 3
NM_012243.3	NP_036375.1	UDP-N-acetylglucosamine transporter isoform 1

SLC35A3 Protein Structure

Nuc_sug_transp

0
100
200
300
325 a.a.

Protein Preferred Names

Protein Names

UDP-N-acetylglucosamine transporter

golgi UDP-GlcNAc transporter

Related Diseases

Diseases

Alias

Arthrogryposis, Impaired Intellectual Development, And Seizures

Arthrogryposis, Mental Retardation, And Seizures	AMRS
Autism Spectrum Disorder - Epilepsy - Arthrogryposis Syndrome	Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Slc35a3-Cdg

Congenital Disorder Of Glycosylation, Type Iif

CDG2F	Congenital Disorder Of Glycosylation Type Iif
Cdg Iif	Cdgiif
Carbohydrate Deficient Glycoprotein Syndrome Type Iif	Cmp-Sialic Acid Transporter Deficiency
Slc35a1-Cdg	Cdg-Iif
Cdgiidf	Cdg Syndrome Type Iif
Congenital Disorder Of Glycosylation Type 2f	Congenital Disorder Of Glycosylation 2f
Glycosylation, Congenital Disorder Of, Type Iif

Schneckenbecken Dysplasia

SHNKND	Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
Chondrodysplasia Lethal Neonatal With Snail Like Pelvis	Chondrodysplasia With Snail-Like Pelvis
Slc35d1-Cdg	Dysplasia, Schneckenbecken

Congenital Disorder Of Glycosylation, Type Iik

CDG2K	Congenital Disorder Of Glycosylation Type Iik
Cdg Iik	Cdgiik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik	Cdg Syndrome Type Iik
Congenital Disorder Of Glycosylation Type 2k	Tmem165-Cdg
Cdg-Iik	Cdgiidk
Congenital Disorder Of Glycosylation 2k	Glycosylation, Congenital Disorder Of, Type Iik

Myasthenic Syndrome, Congenital, 4b, Fast-Channel

Congenital Myasthenic Syndrome 4b	CMS4B
Congenital Myasthenic Syndrome 4b Fast-Channel	Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Joubert Syndrome 2

Cerebellooculorenal Syndrome 2	JBTS2
Cors2	Cerebello-Oculo-Renal Syndrome 2
Joubert Syndrome, Type 2

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance	Fructose Intolerance
Fructose-1-Phosphate Aldolase Deficiency	Fructose-1,6-Bisphosphate Aldolase B Deficiency
Aldolase B Deficiency	Fructosemia
Aldob Deficiency	Hereditary Fructose Intolerance Syndrome
HFI	Fructosaemia
Hereditary Fructose-1-Phosphate Aldolase Deficiency	Fructose Aldolase B Deficiency
Fructose-1,6-Biphosphate Aldolase Deficiency	Hereditary Fructosemia
Fructosemia, Hereditary	Hereditary Fructosaemia
Fructose-Biphosphate Aldolase B Deficiency	Fructose Intolerance Of Newborn
Aldb - [Aldolase B] Deficiency	Deficiency Of Fructose-Bisphosphate Aldolase

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c	CMS4C
Cms Id	Cms1d
Congenital Myasthenic Syndrome Type Id	Fim1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type Id
Cms1d, Formerly	Cms Id, Formerly
Myasthenia, Familial Infantile, 1, Formerly	Fim1, Formerly
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency	Familial Infantile Myasthenia 1
Cms1e	Cms-Achrd
Cms Ie	Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
Congenital Myasthenic Syndrome Type 1d	Congenital Myasthenic Syndrome Type 1e
Congenital Myasthenic Syndrome Type Ie	Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
Myasthenia, Familial Infantile, 1	Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Ie

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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 (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS13197	SLC35A3 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13203	SLC35D3 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13207	SLC35F3 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC35A3	VGNC	VGNC:49969
Rattus norvegicus	SLC35A3	RGD	RGD:1308615
Canis familiaris	SLC35A3	VGNC	VGNC:49650
Felis catus	SLC35A3	VGNC	VGNC:65321
Mus musculus	SLC35A3	MGD	MGI:1917648
Macaca mulatta	SLC35A3	VGNC	VGNC:77461

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