SLC35A1 - solute carrier family 35 member A1 Gene

Homo sapiens

Also known as CST; hCST; CDG2F; CMPST

Gene ID: 10559 | Gene type: protein coding

About SLC35A1

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:87,472,974-87,512,336 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 23.8), lung (RPKM 21.7) and 25 other tissues.

Summary

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

SLC35A1 Products(2)

mRNA	Protein	Name
NM_001168398.2	NP_001161870.1	CMP-sialic acid transporter isoform b
NM_006416.5	NP_006407.1	CMP-sialic acid transporter isoform a

SLC35A1 Protein Structure

Nuc_sug_transp

0
100
200
300
337 a.a.

Protein Preferred Names

Protein Names

CMP-sialic acid transporter

CMP-SA-Tr

Related Diseases

Diseases

Alias

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

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

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

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Congenital Disorder Of Glycosylation, Type Iid

CDG2D	Congenital Disorder Of Glycosylation Type Iid
Cdg Iid	Cdgiid
B4galt1-Cdg	Cdg-Iid
Congenital Disorder Of Glycosylation Type 2d	Beta-1,4-Galactosyltransferase Deficiency
Cdg Syndrome Type Iid	Carbohydrate Deficient Glycoprotein Syndrome Type Iid
Congenital Disorder Of Glycosylation 2d	Glycosylation, Congenital Disorder Of, Type Iid
Congenital Disorder Of Glycosylation, Type Iiid

Congenital Disorder Of Glycosylation, Type Iib

CDG2B	CDGIIB
Glucosidase I Deficiency	Congenital Disorder Of Glycosylation Type Iib
Cdg Iib	Mogs-Cdg
Cdg Syndrome Type Iib	Cdg-Iib
Carbohydrate Deficient Glycoprotein Syndrome Type Iib	Congenital Disorder Of Glycosylation Type 2b
Glucosidase 1 Deficiency	Type Iib Congenital Disorder Of Glycosylation
Glycosylation, Congenital Disorder Of, Type Iib

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly	Cdgs2, Formerly
Cdgs2	Cdg Syndrome Type Iia
Carbohydrate Deficient Glycoprotein Syndrome Type Iia	N-Acetylglucosaminyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Cdgs Type Ii	Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder Of, Type Iia

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

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

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

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 (6)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS13195	SLC35A1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13198	SLC35B1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13200	SLC35C1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13201	SLC35D1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13204	SLC35E1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS13205	SLC35F1 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC35A1	VGNC	VGNC:65319
Canis familiaris	SLC35A1	VGNC	VGNC:46360
Rattus norvegicus	SLC35A1	RGD	RGD:1311359
Macaca mulatta	SLC35A1	VGNC	VGNC:83468
Mus musculus	SLC35A1	MGD	MGI:1345622
Bos taurus	SLC35A1	VGNC	VGNC:34819
Others	SLC35A1	NCBI

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