Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10559
Gene name	Solute carrier family 35 member A1
Gene symbol	SLC35A1
Synonyms (NCBI Gene)	CDG2FCMPSTCSThCST
Chromosome	6
Chromosome location	6q15
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

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs10638303	->CTCA	Risk-factor	Intron variant
rs145006535	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149903512	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs578205635	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1554164712	T>C	Pathogenic	Coding sequence variant, synonymous variant
rs1554166288	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554166289	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554166294	G>C	Pathogenic	Missense variant, coding sequence variant
rs1554166844	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant

164

Show/Hide all (164)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000906	hsa-miR-15a-5p	Microarray	18362358
MIRT000905	hsa-miR-16-5p	Microarray	18362358
MIRT219500	hsa-miR-224-3p	PAR-CLIP	22291592
MIRT219502	hsa-miR-522-3p	PAR-CLIP	22291592
MIRT449699	hsa-miR-5700	PAR-CLIP	22291592
MIRT449700	hsa-miR-302a-5p	PAR-CLIP	22291592
MIRT497426	hsa-miR-1301-5p	PAR-CLIP	22291592
MIRT497425	hsa-miR-6502-5p	PAR-CLIP	22291592
MIRT497424	hsa-miR-6822-3p	PAR-CLIP	22291592
MIRT449698	hsa-miR-299-5p	PAR-CLIP	22291592
MIRT449697	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT219505	hsa-miR-4474-5p	PAR-CLIP	22291592
MIRT219500	hsa-miR-224-3p	PAR-CLIP	22100165
MIRT219502	hsa-miR-522-3p	PAR-CLIP	22100165
MIRT449699	hsa-miR-5700	PAR-CLIP	22100165
MIRT449700	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT449698	hsa-miR-299-5p	PAR-CLIP	22100165
MIRT449697	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT219505	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT219500	hsa-miR-224-3p	PAR-CLIP	22291592
MIRT219502	hsa-miR-522-3p	PAR-CLIP	22291592
MIRT449699	hsa-miR-5700	PAR-CLIP	22291592
MIRT449700	hsa-miR-302a-5p	PAR-CLIP	22291592
MIRT497426	hsa-miR-1301-5p	PAR-CLIP	22291592
MIRT497425	hsa-miR-6502-5p	PAR-CLIP	22291592
MIRT497424	hsa-miR-6822-3p	PAR-CLIP	22291592
MIRT449698	hsa-miR-299-5p	PAR-CLIP	22291592
MIRT449697	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT219505	hsa-miR-4474-5p	PAR-CLIP	22291592
MIRT219500	hsa-miR-224-3p	PAR-CLIP	22100165
MIRT219502	hsa-miR-522-3p	PAR-CLIP	22100165
MIRT449699	hsa-miR-5700	PAR-CLIP	22100165
MIRT449700	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT449698	hsa-miR-299-5p	PAR-CLIP	22100165
MIRT449697	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT219505	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT1360053	hsa-miR-1197	CLIP-seq
MIRT1360054	hsa-miR-1276	CLIP-seq
MIRT1360055	hsa-miR-3680	CLIP-seq
MIRT1360056	hsa-miR-3936	CLIP-seq
MIRT1360057	hsa-miR-4293	CLIP-seq
MIRT1360058	hsa-miR-431	CLIP-seq
MIRT1360059	hsa-miR-4421	CLIP-seq
MIRT1360060	hsa-miR-4461	CLIP-seq
MIRT1360061	hsa-miR-4509	CLIP-seq
MIRT1360062	hsa-miR-4709-5p	CLIP-seq
MIRT1360063	hsa-miR-4719	CLIP-seq
MIRT1360064	hsa-miR-4727-5p	CLIP-seq
MIRT1360065	hsa-miR-4728-3p	CLIP-seq
MIRT1360066	hsa-miR-4798-3p	CLIP-seq
MIRT1360067	hsa-miR-491-3p	CLIP-seq
MIRT1360068	hsa-miR-544	CLIP-seq
MIRT1360069	hsa-miR-596	CLIP-seq
MIRT1360070	hsa-miR-643	CLIP-seq
MIRT1360071	hsa-miR-944	CLIP-seq
MIRT1360072	hsa-miR-1237	CLIP-seq
MIRT1360073	hsa-miR-129-5p	CLIP-seq
MIRT1360074	hsa-miR-155	CLIP-seq
MIRT1360075	hsa-miR-1912	CLIP-seq
MIRT1360076	hsa-miR-197	CLIP-seq
MIRT1360077	hsa-miR-3121-3p	CLIP-seq
MIRT1360078	hsa-miR-3146	CLIP-seq
MIRT1360079	hsa-miR-3185	CLIP-seq
MIRT1360055	hsa-miR-3680	CLIP-seq
MIRT1360056	hsa-miR-3936	CLIP-seq
MIRT1360080	hsa-miR-4251	CLIP-seq
MIRT1360081	hsa-miR-4264	CLIP-seq
MIRT1360082	hsa-miR-4303	CLIP-seq
MIRT1360083	hsa-miR-4329	CLIP-seq
MIRT1360061	hsa-miR-4509	CLIP-seq
MIRT1360084	hsa-miR-4517	CLIP-seq
MIRT1360085	hsa-miR-4704-3p	CLIP-seq
MIRT1360086	hsa-miR-4709-3p	CLIP-seq
MIRT1360087	hsa-miR-4724-3p	CLIP-seq
MIRT1360088	hsa-miR-4775	CLIP-seq
MIRT1360066	hsa-miR-4798-3p	CLIP-seq
MIRT1360067	hsa-miR-491-3p	CLIP-seq
MIRT1360089	hsa-miR-510	CLIP-seq
MIRT1360090	hsa-miR-512-5p	CLIP-seq
MIRT1360091	hsa-miR-590-3p	CLIP-seq
MIRT1360092	hsa-miR-664	CLIP-seq
MIRT2106570	hsa-miR-496	CLIP-seq
MIRT1360072	hsa-miR-1237	CLIP-seq
MIRT2330839	hsa-miR-136	CLIP-seq
MIRT1360074	hsa-miR-155	CLIP-seq
MIRT1360076	hsa-miR-197	CLIP-seq
MIRT2330840	hsa-miR-3591-3p	CLIP-seq
MIRT1360055	hsa-miR-3680	CLIP-seq
MIRT2330841	hsa-miR-3925-5p	CLIP-seq
MIRT1360056	hsa-miR-3936	CLIP-seq
MIRT1360080	hsa-miR-4251	CLIP-seq
MIRT1360081	hsa-miR-4264	CLIP-seq
MIRT2330842	hsa-miR-4274	CLIP-seq
MIRT1360082	hsa-miR-4303	CLIP-seq
MIRT1360083	hsa-miR-4329	CLIP-seq
MIRT2330843	hsa-miR-4330	CLIP-seq
MIRT1360061	hsa-miR-4509	CLIP-seq
MIRT2330844	hsa-miR-4519	CLIP-seq
MIRT2330845	hsa-miR-4524	CLIP-seq
MIRT1360085	hsa-miR-4704-3p	CLIP-seq
MIRT1360063	hsa-miR-4719	CLIP-seq
MIRT1360087	hsa-miR-4724-3p	CLIP-seq
MIRT2330846	hsa-miR-4773	CLIP-seq
MIRT1360066	hsa-miR-4798-3p	CLIP-seq
MIRT1360089	hsa-miR-510	CLIP-seq
MIRT1360090	hsa-miR-512-5p	CLIP-seq
MIRT2330847	hsa-miR-522	CLIP-seq
MIRT1360072	hsa-miR-1237	CLIP-seq
MIRT2394727	hsa-miR-183	CLIP-seq
MIRT1360080	hsa-miR-4251	CLIP-seq
MIRT1360082	hsa-miR-4303	CLIP-seq
MIRT1360083	hsa-miR-4329	CLIP-seq
MIRT1360063	hsa-miR-4719	CLIP-seq
MIRT1360088	hsa-miR-4775	CLIP-seq
MIRT2440526	hsa-miR-582-5p	CLIP-seq
MIRT1360091	hsa-miR-590-3p	CLIP-seq
MIRT2459696	hsa-miR-3609	CLIP-seq
MIRT2459697	hsa-miR-548ah	CLIP-seq
MIRT2459698	hsa-miR-548k	CLIP-seq
MIRT2459699	hsa-miR-548n	CLIP-seq
MIRT2459700	hsa-miR-548t	CLIP-seq
MIRT1360073	hsa-miR-129-5p	CLIP-seq
MIRT1360075	hsa-miR-1912	CLIP-seq
MIRT1360076	hsa-miR-197	CLIP-seq
MIRT1360077	hsa-miR-3121-3p	CLIP-seq
MIRT1360079	hsa-miR-3185	CLIP-seq
MIRT2625087	hsa-miR-3614-3p	CLIP-seq
MIRT1360055	hsa-miR-3680	CLIP-seq
MIRT1360056	hsa-miR-3936	CLIP-seq
MIRT1360081	hsa-miR-4264	CLIP-seq
MIRT1360061	hsa-miR-4509	CLIP-seq
MIRT2625088	hsa-miR-4646-3p	CLIP-seq
MIRT1360085	hsa-miR-4704-3p	CLIP-seq
MIRT1360086	hsa-miR-4709-3p	CLIP-seq
MIRT1360063	hsa-miR-4719	CLIP-seq
MIRT1360066	hsa-miR-4798-3p	CLIP-seq
MIRT2106570	hsa-miR-496	CLIP-seq
MIRT1360089	hsa-miR-510	CLIP-seq
MIRT1360090	hsa-miR-512-5p	CLIP-seq
MIRT2625089	hsa-miR-579	CLIP-seq
MIRT1360092	hsa-miR-664	CLIP-seq
MIRT2691130	hsa-miR-1271	CLIP-seq
MIRT2691131	hsa-miR-135a	CLIP-seq
MIRT2691132	hsa-miR-135b	CLIP-seq
MIRT2691133	hsa-miR-182	CLIP-seq
MIRT1360075	hsa-miR-1912	CLIP-seq
MIRT1360076	hsa-miR-197	CLIP-seq
MIRT2691134	hsa-miR-3119	CLIP-seq
MIRT1360077	hsa-miR-3121-3p	CLIP-seq
MIRT2625087	hsa-miR-3614-3p	CLIP-seq
MIRT1360055	hsa-miR-3680	CLIP-seq
MIRT1360056	hsa-miR-3936	CLIP-seq
MIRT1360081	hsa-miR-4264	CLIP-seq
MIRT1360061	hsa-miR-4509	CLIP-seq
MIRT2625088	hsa-miR-4646-3p	CLIP-seq
MIRT1360085	hsa-miR-4704-3p	CLIP-seq
MIRT1360063	hsa-miR-4719	CLIP-seq
MIRT1360066	hsa-miR-4798-3p	CLIP-seq
MIRT2106570	hsa-miR-496	CLIP-seq
MIRT1360089	hsa-miR-510	CLIP-seq
MIRT1360090	hsa-miR-512-5p	CLIP-seq
MIRT2625089	hsa-miR-579	CLIP-seq
MIRT1360092	hsa-miR-664	CLIP-seq
MIRT2691135	hsa-miR-96	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005456	Function	CMP-N-acetylneuraminate transmembrane transporter activity	IBA
GO:0005456	Function	CMP-N-acetylneuraminate transmembrane transporter activity	IEA
GO:0005456	Function	CMP-N-acetylneuraminate transmembrane transporter activity	ISS
GO:0005456	Function	CMP-N-acetylneuraminate transmembrane transporter activity	TAS	9644260
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	9644260
GO:0005886	Component	Plasma membrane	TAS	9644260
GO:0005975	Process	Carbohydrate metabolic process	TAS	9644260
GO:0006054	Process	N-acetylneuraminate metabolic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IEA
GO:0015165	Function	Pyrimidine nucleotide-sugar transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015297	Function	Antiporter activity	ISS
GO:0015782	Process	CMP-N-acetylneuraminate transmembrane transport	IBA
GO:0015782	Process	CMP-N-acetylneuraminate transmembrane transport	IDA	15576474
GO:0015782	Process	CMP-N-acetylneuraminate transmembrane transport	IEA
GO:0015782	Process	CMP-N-acetylneuraminate transmembrane transport	ISS
GO:0015782	Process	CMP-N-acetylneuraminate transmembrane transport	TAS	9644260
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0036211	Process	Protein modification process	TAS	9644260
GO:0090481	Process	Pyrimidine nucleotide-sugar transmembrane transport	IEA

MIM	HGNC	e!Ensembl
605634	11021	ENSG00000164414

P78382

Protein name

CMP-sialic acid transporter (CMP-SA-Tr) (CMP-Sia-Tr) (CST) (Solute carrier family 35 member A1)

Protein function

Transports CMP-sialic acid from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges CMP-sialic acid for CMP (PubMed:12682060, PubMed:15576474, PubMed:23873973). Binds both CMP-sialic acid and free CMP, but has highe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04142	Nuc_sug_transp	8 → 314	Nucleotide-sugar transporter	Family

Sequence

MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSV
GILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMAFLALSNLDAAVYQVT
YQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGA
IAIAVLCSGFAGVYFEKVLKSSDTSLWVRNIQMYLSGIIVTLAGVYLSDGAEIKEKGFFY
GYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSAAAAIVLSTIASVMLFGLQITLTFA
LGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV

Sequence length

337

Interactions

View interactions

	Reactome
			Sialic acid metabolism Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) Transport of nucleotide sugars

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
SLC35A1-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2482848939, rs1554166294, rs578205635, rs1554166844	RCV002280855 RCV000578208 RCV000578209 RCV000578207

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1554164712, rs1554166288, rs1554166289	-
Congenital disorder of glycosylation	Uncertain significance	rs1554167143, rs886061818, rs886061819, rs886061816	RCV000283029 RCV000276268 RCV000328106 RCV000356125
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF	Benign	rs10638303	RCV000005115
Familial cancer of breast	Benign	rs182165900	RCV005925348
Lung cancer	Uncertain significance	rs201507608	RCV005892081
SLC35A1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs114156788, rs145006535, rs762355511, rs147999550, rs777582994, rs146938059	RCV003935054 RCV003932481 RCV003934175 RCV003945518 RCV003955551 RCV003973165

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colitis Ulcerative	Associate	36746519
Congenital Disorders of Glycosylation	Associate	32303557, 33396746
Glycogen Storage Disease XIV	Associate	32303557
Infections	Associate	31320712
Thrombocytopenia	Associate	32303557
Thyroid Cancer Papillary	Associate	34590520

SLC35A1 (solute carrier family 35 member A1)