SLC35A1 - solute carrier family 35 member A1 Gene

Also Known as CST; hCST; CDG2F; CMPST

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10559

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in CMP-N-acetylneuraminate transmembrane transport	IDA IDA: Inferred from direct assay	15576474	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

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

SLC35A1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC35A1	P78382	SDC3	Homo sapiens	A0A0S2Z4U3	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SDC3	Homo sapiens	A0A0S2Z4U3	Y2H Array	32296183
Intra	SLC35A1	P78382	RELL2	Homo sapiens	Q8NC24	Y2H Array	32296183
Intra	SLC35A1	P78382	RELL2	Homo sapiens	Q8NC24	Validated Y2H	32296183
Intra	SLC35A1	P78382	RELL2	Homo sapiens	Q8NC24	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	PIK3IP1	Homo sapiens	Q96FE7	Validated Y2H	32296183
Intra	SLC35A1	P78382	PIK3IP1	Homo sapiens	Q96FE7	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	PIK3IP1	Homo sapiens	Q96FE7	Y2H Array	32296183
Intra	SLC35A1	P78382	PLPP4	Homo sapiens	Q5VZY2	Validated Y2H	32296183
Intra	SLC35A1	P78382	PLPP4	Homo sapiens	Q5VZY2	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	PLPP4	Homo sapiens	Q5VZY2	Y2H Array	32296183
Intra	SLC35A1	P78382	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	ARL13B	Homo sapiens	Q3SXY8	Validated Y2H	32296183
Intra	SLC35A1	P78382	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	SLC35A1	P78382	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	SLC35A1	P78382	GPX8	Homo sapiens	Q8TED1	Validated Y2H	32296183
Intra	SLC35A1	P78382	FNDC9	Homo sapiens	Q8TBE3	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	FNDC9	Homo sapiens	Q8TBE3	Validated Y2H	32296183
Intra	SLC35A1	P78382	FNDC9	Homo sapiens	Q8TBE3	Y2H Array	32296183
Intra	SLC35A1	P78382	FXYD3	Homo sapiens	Q14802-3	Y2H Array	32296183
Intra	SLC35A1	P78382	FXYD3	Homo sapiens	Q14802-3	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	FXYD3	Homo sapiens	Q14802-3	Validated Y2H	32296183
Intra	SLC35A1	P78382	ASZ1	Homo sapiens	Q8WWH4	Y2H Array	32296183
Intra	SLC35A1	P78382	ASZ1	Homo sapiens	Q8WWH4	Validated Y2H	32296183
Intra	SLC35A1	P78382	ASZ1	Homo sapiens	Q8WWH4	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	TMPRSS2	Homo sapiens	O15393-2	Y2H Array	32296183
Intra	SLC35A1	P78382	TMPRSS2	Homo sapiens	O15393-2	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	ASGR2	Homo sapiens	P07307-3	Y2H Array	32296183
Intra	SLC35A1	P78382	ASGR2	Homo sapiens	P07307-3	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SLC34A2	Homo sapiens	O95436-2	Y2H Array	32296183
Intra	SLC35A1	P78382	SLC34A2	Homo sapiens	O95436-2	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	SLC35A1	P78382	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC35A1	P78382	KIR3DL3	Homo sapiens	Q8N743	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	KIR3DL3	Homo sapiens	Q8N743	Validated Y2H	32296183
Intra	SLC35A1	P78382	KIR3DL3	Homo sapiens	Q8N743	Y2H Array	32296183
Intra	SLC35A1	P78382	SSMEM1	Homo sapiens	Q8WWF3	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SSMEM1	Homo sapiens	Q8WWF3	Y2H Array	32296183
Intra	SLC35A1	P78382	SSMEM1	Homo sapiens	Q8WWF3	Validated Y2H	32296183
Intra	SLC35A1	P78382	CPLX4	Homo sapiens	Q7Z7G2	Y2H Array	32296183
Intra	SLC35A1	P78382	CPLX4	Homo sapiens	Q7Z7G2	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	CPLX4	Homo sapiens	Q7Z7G2	Validated Y2H	32296183
Intra	SLC35A1	P78382	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	SLC35A1	P78382	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	SLC35A1	P78382	CERS4	Homo sapiens	Q9HA82	Validated Y2H	32296183
Intra	SLC35A1	P78382	CERS4	Homo sapiens	Q9HA82	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	MCFD2	Homo sapiens	Q8NI22	Validated Y2H	32296183
Intra	SLC35A1	P78382	MCFD2	Homo sapiens	Q8NI22	Y2H Array	32296183
Intra	SLC35A1	P78382	MCFD2	Homo sapiens	Q8NI22	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	LHFPL5	Homo sapiens	Q8TAF8	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	LHFPL5	Homo sapiens	Q8TAF8	Validated Y2H	32296183
Intra	SLC35A1	P78382	LHFPL5	Homo sapiens	Q8TAF8	Y2H Array	32296183
Intra	SLC35A1	P78382	SAR1A	Homo sapiens	Q9NR31	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SAR1A	Homo sapiens	Q9NR31	Validated Y2H	32296183
Intra	SLC35A1	P78382	SAR1A	Homo sapiens	Q9NR31	Y2H Array	32296183
Intra	SLC35A1	P78382	TCTA	Homo sapiens	P57738	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	TCTA	Homo sapiens	P57738	Y2H Array	32296183
Intra	SLC35A1	P78382	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	SLC35A1	P78382	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	SLC35A1	P78382	CD53	Homo sapiens	P19397	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	CD53	Homo sapiens	P19397	Y2H Array	32296183
Intra	SLC35A1	P78382	TMEM139	Homo sapiens	Q8IV31	Validated Y2H	32296183
Intra	SLC35A1	P78382	TMEM139	Homo sapiens	Q8IV31	Y2H Array	32296183
Intra	SLC35A1	P78382	TMEM139	Homo sapiens	Q8IV31	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	MGST3	Homo sapiens	O14880	Y2H Array	32296183
Intra	SLC35A1	P78382	MGST3	Homo sapiens	O14880	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	F11R	Homo sapiens	Q9Y624	Y2H Array	32296183
Intra	SLC35A1	P78382	F11R	Homo sapiens	Q9Y624	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	F11R	Homo sapiens	Q9Y624	Validated Y2H	32296183
Intra	SLC35A1	P78382	SLC1A1	Homo sapiens	P43005	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SLC1A1	Homo sapiens	P43005	Y2H Array	32296183
Intra	SLC35A1	P78382	BCL2L13	Homo sapiens	Q9BXK5	Validated Y2H	32296183
Intra	SLC35A1	P78382	BCL2L13	Homo sapiens	Q9BXK5	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	BCL2L13	Homo sapiens	Q9BXK5	Y2H Array	32296183
Intra	SLC35A1	P78382	MRPS18B	Homo sapiens	Q9Y676	Y2H Array	32296183
Intra	SLC35A1	P78382	MRPS18B	Homo sapiens	Q9Y676	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	MRPS18B	Homo sapiens	Q9Y676	Validated Y2H	32296183
Intra	SLC35A1	P78382	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	SLC35A1	P78382	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	SLC35A1	P78382	SYT2	Homo sapiens	Q8N9I0	Validated Y2H	32296183
Intra	SLC35A1	P78382	SYT2	Homo sapiens	Q8N9I0	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	SYT2	Homo sapiens	Q8N9I0	Y2H Array	32296183
Intra	SLC35A1	P78382	EBAG9	Homo sapiens	O00559	Y2H Prey Pooling	32296183
Intra	SLC35A1	P78382	EBAG9	Homo sapiens	O00559	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (6)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13195	SLC35A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13198	SLC35B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13200	SLC35C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13201	SLC35D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13204	SLC35E1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13205	SLC35F1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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