P78382 (S35A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
CMP-sialic acid transporter
Short name=CMP-SA-Tr
Short name=CMP-Sia-Tr

Alternative name(s):
Solute carrier family 35 member A1

Gene names

Name:

SLC35A1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	337 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.
Subcellular location	Golgi apparatus membrane; Multi-pass membrane protein.
Involvement in disease	Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585]: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2
Sequence similarities	Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.

Ontologies

Keywords
Biological process	Sugar transport Transport
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Disease	Congenital disorder of glycosylation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement PubMed 9644260. Source: ProtInc cellular protein modification process Traceable author statement PubMed 9644260. Source: ProtInc
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement PubMed 9644260. Source: ProtInc
Molecular_function	CMP-N-acetylneuraminate transmembrane transporter activity Traceable author statement PubMed 9644260. Source: ProtInc sugar:hydrogen symporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P78382-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P78382-2)

The sequence of this isoform differs from the canonical sequence as follows:
     192-251: GVYFEKVLKSSDTSLWVRNIQMYLSGIIVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIF → V

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 337	337	CMP-sialic acid transporter		PRO_0000213351
Regions
	Topological domain	1 – 9	9	Cytoplasmic Potential
	Transmembrane	10 – 30	21	Helical; Potential
	Topological domain	31 – 45	15	Lumenal Potential
	Transmembrane	46 – 64	19	Helical; Potential
	Topological domain	65 – 87	23	Cytoplasmic Potential
	Transmembrane	88 – 108	21	Helical; Potential
	Topological domain	109 – 113	5	Lumenal Potential
	Transmembrane	114 – 135	22	Helical; Potential
	Topological domain	136 – 141	6	Cytoplasmic Potential
	Transmembrane	142 – 160	19	Helical; Potential
	Topological domain	161 – 175	15	Lumenal Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Topological domain	197 – 212	16	Cytoplasmic Potential
	Transmembrane	213 – 228	16	Helical; Potential
	Topological domain	229 – 243	15	Lumenal Potential
	Transmembrane	244 – 262	19	Helical; Potential
	Topological domain	263 – 272	10	Cytoplasmic Potential
	Transmembrane	273 – 291	19	Helical; Potential
	Topological domain	292 – 296	5	Lumenal Potential
	Transmembrane	297 – 315	19	Helical; Potential
	Topological domain	316 – 337	22	Cytoplasmic Potential
Natural variations
	Alternative sequence	192 – 251	60	GVYFE…WFVIF → V in isoform 2.		VSP_042916

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 508DD77F5EEBB5A7	FASTA	337	36,779
	10 20 30 40 50 60 MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI TEVIKLLLSV 70 80 90 100 110 120 GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV QNNMAFLALS NLDAAVYQVT 130 140 150 160 170 180 YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM LCAGVTLVQW KPAQATKVVV EQNPLLGFGA 190 200 210 220 230 240 IAIAVLCSGF AGVYFEKVLK SSDTSLWVRN IQMYLSGIIV TLAGVYLSDG AEIKEKGFFY 250 260 270 280 290 300 GYTYYVWFVI FLASVGGLYT SVVVKYTDNI MKGFSAAAAI VLSTIASVML FGLQITLTFA 310 320 330 LGTLLVCVSI YLYGLPRQDT TSIQQGETAS KERVIGV
	Isoform 2 [UniParc]. Checksum: CA0BD6699B9F97B0	FASTA	278	29,919
	10 20 30 40 50 60 MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI TEVIKLLLSV 70 80 90 100 110 120 GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV QNNMAFLALS NLDAAVYQVT 130 140 150 160 170 180 YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM LCAGVTLVQW KPAQATKVVV EQNPLLGFGA 190 200 210 220 230 240 IAIAVLCSGF AVLASVGGLY TSVVVKYTDN IMKGFSAAAA IVLSTIASVM LFGLQITLTF 250 260 270 ALGTLLVCVS IYLYGLPRQD TTSIQQGETA SKERVIGV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family." Ishida N., Miura N., Yoshioka S., Kawakita M. J. Biochem. 120:1074-1078(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Liver.
[2]	"Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter." Martinez-Duncker I., Dupre T., Piller V., Piller F., Candelier J.-J., Trichet C., Tchernia G., Oriol R., Mollicone R. Blood 105:2671-2676(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN CDG2F.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	D87969 mRNA. Translation: BAA13522.1. AJ851888 mRNA. Translation: CAH65468.1. AL049697 Genomic DNA. Translation: CAB76857.1. BC017807 mRNA. Translation: AAH17807.1.
IPI	IPI00478254. IPI00746093.
PIR	JC5023.
RefSeq	NP_001161870.1. NM_001168398.1. NP_006407.1. NM_006416.4.
UniGene	Hs.423163.
3D structure databases
ProteinModelPortal	P78382.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000358565.
Protein family/group databases
TCDB	2.A.7.12.11. drug/metabolite transporter (DMT) superfamily.
Polymorphism databases
DMDM	2499226.
Proteomic databases
PaxDb	P78382.
PRIDE	P78382.
Protocols and materials databases
DNASU	10559.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369552; ENSP00000358565; ENSG00000164414. ENST00000369556; ENSP00000358569; ENSG00000164414.
GeneID	10559.
KEGG	hsa:10559.
UCSC	uc011dzi.2. human.
Organism-specific databases
CTD	10559.
GeneCards	GC06P088180.
HGNC	HGNC:11021. SLC35A1.
MIM	603585. phenotype. 605634. gene.
neXtProt	NX_P78382.
Orphanet	238459. CDG syndrome type IIf.
PharmGKB	PA35889.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0697.
HOGENOM	HOG000216649.
HOVERGEN	HBG054025.
InParanoid	P78382.
KO	K15272.
OMA	GSPKELM.
OrthoDB	EOG451DR4.
PhylomeDB	P78382.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P78382.
Bgee	P78382.
CleanEx	HS_SLC35A1.
Genevestigator	P78382.
GermOnline	ENSG00000164414. Homo sapiens.
Family and domain databases
InterPro	IPR007271. Nuc_sug_transpt. IPR021189. UDP/CMP-sugar_transptr. IPR004689. UDPgal_transpt. [Graphical view]
PANTHER	PTHR10231. PTHR10231. 1 hit.
Pfam	PF04142. Nuc_sug_transp. 1 hit. [Graphical view]
PIRSF	PIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMs	TIGR00803. nst. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	SLC35A1. human.
GenomeRNAi	10559.
NextBio	40073.
SOURCE	Search...

Entry information

Entry name

S35A1_HUMAN

Accession

Primary (citable) accession number: P78382
Secondary accession number(s): Q5W1L8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 1, 1997
Last modified:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.