Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P78382 (S35A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length337 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 337337CMP-sialic acid transporter
PRO_0000213351

Regions

Topological domain1 – 99Cytoplasmic Potential
Transmembrane10 – 3021Helical; Potential
Topological domain31 – 4515Lumenal Potential
Transmembrane46 – 6419Helical; Potential
Topological domain65 – 8723Cytoplasmic Potential
Transmembrane88 – 10821Helical; Potential
Topological domain109 – 1135Lumenal Potential
Transmembrane114 – 13522Helical; Potential
Topological domain136 – 1416Cytoplasmic Potential
Transmembrane142 – 16019Helical; Potential
Topological domain161 – 17515Lumenal Potential
Transmembrane176 – 19621Helical; Potential
Topological domain197 – 21216Cytoplasmic Potential
Transmembrane213 – 22816Helical; Potential
Topological domain229 – 24315Lumenal Potential
Transmembrane244 – 26219Helical; Potential
Topological domain263 – 27210Cytoplasmic Potential
Transmembrane273 – 29119Helical; Potential
Topological domain292 – 2965Lumenal Potential
Transmembrane297 – 31519Helical; Potential
Topological domain316 – 33722Cytoplasmic Potential

Natural variations

Alternative sequence192 – 25160GVYFE…WFVIF → V in isoform 2.
VSP_042916

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 508DD77F5EEBB5A7

FASTA33736,779
        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 

« Hide

Isoform 2 [UniParc].

Checksum: CA0BD6699B9F97B0
Show »

FASTA27829,919

References

« Hide '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. expand/collapse author list , 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.
PIRJC5023.
RefSeqNP_001161870.1. NM_001168398.1.
NP_006407.1. NM_006416.4.
UniGeneHs.423163.

3D structure databases

ProteinModelPortalP78382.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000358565.

Protein family/group databases

TCDB2.A.7.12.11. the drug/metabolite transporter (dmt) superfamily.

Polymorphism databases

DMDM2499226.

Proteomic databases

PaxDbP78382.
PRIDEP78382.

Protocols and materials databases

DNASU10559.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369552; ENSP00000358565; ENSG00000164414. [P78382-1]
ENST00000369556; ENSP00000358569; ENSG00000164414. [P78382-2]
GeneID10559.
KEGGhsa:10559.
UCSCuc010kbx.3. human. [P78382-2]
uc011dzi.2. human. [P78382-1]

Organism-specific databases

CTD10559.
GeneCardsGC06P088180.
HGNCHGNC:11021. SLC35A1.
MIM603585. phenotype.
605634. gene.
neXtProtNX_P78382.
Orphanet238459. SLC35A1-CDG.
PharmGKBPA35889.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0697.
HOGENOMHOG000216649.
HOVERGENHBG054025.
InParanoidP78382.
KOK15272.
OMAKFQNVHI.
OrthoDBEOG7NCV4D.
PhylomeDBP78382.
TreeFamTF315345.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeP78382.
CleanExHS_SLC35A1.
GenevestigatorP78382.

Family and domain databases

InterProIPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view]
PANTHERPTHR10231. PTHR10231. 1 hit.
PfamPF04142. Nuc_sug_transp. 1 hit.
[Graphical view]
PIRSFPIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsTIGR00803. nst. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSLC35A1. human.
GenomeRNAi10559.
NextBio40073.
PROP78382.
SOURCESearch...

Entry information

Entry nameS35A1_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM