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P78382

- S35A1_HUMAN

UniProt

P78382 - S35A1_HUMAN

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Protein
CMP-sialic acid transporter
Gene
SLC35A1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.

GO - Molecular functioni

  1. CMP-N-acetylneuraminate transmembrane transporter activity Source: ProtInc
  2. sugar:proton symporter activity Source: InterPro

GO - Biological processi

  1. CMP-N-acetylneuraminate transport Source: ProtInc
  2. carbohydrate metabolic process Source: ProtInc
  3. cellular protein modification process Source: ProtInc
  4. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_200874. Sialic acid metabolism.
REACT_22151. Transport of nucleotide sugars.

Protein family/group databases

TCDBi2.A.7.12.11. the drug/metabolite transporter (dmt) superfamily.

Names & Taxonomyi

Protein namesi
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 namesi
Name:SLC35A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:11021. SLC35A1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99Cytoplasmic Reviewed prediction
Transmembranei10 – 3021Helical; Reviewed prediction
Add
BLAST
Topological domaini31 – 4515Lumenal Reviewed prediction
Add
BLAST
Transmembranei46 – 6419Helical; Reviewed prediction
Add
BLAST
Topological domaini65 – 8723Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei88 – 10821Helical; Reviewed prediction
Add
BLAST
Topological domaini109 – 1135Lumenal Reviewed prediction
Transmembranei114 – 13522Helical; Reviewed prediction
Add
BLAST
Topological domaini136 – 1416Cytoplasmic Reviewed prediction
Transmembranei142 – 16019Helical; Reviewed prediction
Add
BLAST
Topological domaini161 – 17515Lumenal Reviewed prediction
Add
BLAST
Transmembranei176 – 19621Helical; Reviewed prediction
Add
BLAST
Topological domaini197 – 21216Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei213 – 22816Helical; Reviewed prediction
Add
BLAST
Topological domaini229 – 24315Lumenal Reviewed prediction
Add
BLAST
Transmembranei244 – 26219Helical; Reviewed prediction
Add
BLAST
Topological domaini263 – 27210Cytoplasmic Reviewed prediction
Transmembranei273 – 29119Helical; Reviewed prediction
Add
BLAST
Topological domaini292 – 2965Lumenal Reviewed prediction
Transmembranei297 – 31519Helical; Reviewed prediction
Add
BLAST
Topological domaini316 – 33722Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: ProtInc
  2. Golgi membrane Source: Reactome
  3. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Congenital disorder of glycosylation

Organism-specific databases

MIMi603585. phenotype.
Orphaneti238459. SLC35A1-CDG.
PharmGKBiPA35889.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 337337CMP-sialic acid transporter
PRO_0000213351Add
BLAST

Proteomic databases

MaxQBiP78382.
PaxDbiP78382.
PRIDEiP78382.

Expressioni

Gene expression databases

BgeeiP78382.
CleanExiHS_SLC35A1.
GenevestigatoriP78382.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000358565.

Structurei

3D structure databases

ProteinModelPortaliP78382.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0697.
HOGENOMiHOG000216649.
HOVERGENiHBG054025.
InParanoidiP78382.
KOiK15272.
OMAiRNIQLYL.
OrthoDBiEOG7NCV4D.
PhylomeDBiP78382.
TreeFamiTF315345.

Family and domain databases

InterProiIPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view]
PANTHERiPTHR10231. PTHR10231. 1 hit.
PfamiPF04142. Nuc_sug_transp. 1 hit.
[Graphical view]
PIRSFiPIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsiTIGR00803. nst. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P78382-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI    50
TEVIKLLLSV GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV 100
QNNMAFLALS NLDAAVYQVT YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM 150
LCAGVTLVQW KPAQATKVVV EQNPLLGFGA IAIAVLCSGF AGVYFEKVLK 200
SSDTSLWVRN IQMYLSGIIV TLAGVYLSDG AEIKEKGFFY GYTYYVWFVI 250
FLASVGGLYT SVVVKYTDNI MKGFSAAAAI VLSTIASVML FGLQITLTFA 300
LGTLLVCVSI YLYGLPRQDT TSIQQGETAS KERVIGV 337
Length:337
Mass (Da):36,779
Last modified:May 1, 1997 - v1
Checksum:i508DD77F5EEBB5A7
GO
Isoform 2 (identifier: P78382-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:278
Mass (Da):29,919
Checksum:iCA0BD6699B9F97B0
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei192 – 25160GVYFE…WFVIF → V in isoform 2.
VSP_042916Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D87969 mRNA. Translation: BAA13522.1.
AJ851888 mRNA. Translation: CAH65468.1.
AL049697 Genomic DNA. Translation: CAB76857.1.
BC017807 mRNA. Translation: AAH17807.1.
CCDSiCCDS5010.1. [P78382-1]
CCDS55043.1. [P78382-2]
PIRiJC5023.
RefSeqiNP_001161870.1. NM_001168398.1. [P78382-2]
NP_006407.1. NM_006416.4. [P78382-1]
UniGeneiHs.423163.

Genome annotation databases

EnsembliENST00000369552; ENSP00000358565; ENSG00000164414. [P78382-1]
ENST00000369556; ENSP00000358569; ENSG00000164414. [P78382-2]
GeneIDi10559.
KEGGihsa:10559.
UCSCiuc010kbx.3. human. [P78382-2]
uc011dzi.2. human. [P78382-1]

Polymorphism databases

DMDMi2499226.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D87969 mRNA. Translation: BAA13522.1 .
AJ851888 mRNA. Translation: CAH65468.1 .
AL049697 Genomic DNA. Translation: CAB76857.1 .
BC017807 mRNA. Translation: AAH17807.1 .
CCDSi CCDS5010.1. [P78382-1 ]
CCDS55043.1. [P78382-2 ]
PIRi JC5023.
RefSeqi NP_001161870.1. NM_001168398.1. [P78382-2 ]
NP_006407.1. NM_006416.4. [P78382-1 ]
UniGenei Hs.423163.

3D structure databases

ProteinModelPortali P78382.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000358565.

Protein family/group databases

TCDBi 2.A.7.12.11. the drug/metabolite transporter (dmt) superfamily.

Polymorphism databases

DMDMi 2499226.

Proteomic databases

MaxQBi P78382.
PaxDbi P78382.
PRIDEi P78382.

Protocols and materials databases

DNASUi 10559.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369552 ; ENSP00000358565 ; ENSG00000164414 . [P78382-1 ]
ENST00000369556 ; ENSP00000358569 ; ENSG00000164414 . [P78382-2 ]
GeneIDi 10559.
KEGGi hsa:10559.
UCSCi uc010kbx.3. human. [P78382-2 ]
uc011dzi.2. human. [P78382-1 ]

Organism-specific databases

CTDi 10559.
GeneCardsi GC06P088180.
HGNCi HGNC:11021. SLC35A1.
MIMi 603585. phenotype.
605634. gene.
neXtProti NX_P78382.
Orphaneti 238459. SLC35A1-CDG.
PharmGKBi PA35889.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0697.
HOGENOMi HOG000216649.
HOVERGENi HBG054025.
InParanoidi P78382.
KOi K15272.
OMAi RNIQLYL.
OrthoDBi EOG7NCV4D.
PhylomeDBi P78382.
TreeFami TF315345.

Enzyme and pathway databases

Reactomei REACT_200874. Sialic acid metabolism.
REACT_22151. Transport of nucleotide sugars.

Miscellaneous databases

ChiTaRSi SLC35A1. human.
GenomeRNAii 10559.
NextBioi 40073.
PROi P78382.
SOURCEi Search...

Gene expression databases

Bgeei P78382.
CleanExi HS_SLC35A1.
Genevestigatori P78382.

Family and domain databases

InterProi IPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view ]
PANTHERi PTHR10231. PTHR10231. 1 hit.
Pfami PF04142. Nuc_sug_transp. 1 hit.
[Graphical view ]
PIRSFi PIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsi TIGR00803. nst. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiS35A1_HUMAN
AccessioniPrimary (citable) accession number: P78382
Secondary accession number(s): Q5W1L8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: September 3, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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