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P78382

- S35A1_HUMAN

UniProt

P78382 - S35A1_HUMAN

Protein

CMP-sialic acid transporter

Gene

SLC35A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    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. carbohydrate metabolic process Source: ProtInc
    2. cellular protein modification process Source: ProtInc
    3. CMP-N-acetylneuraminate transport Source: ProtInc
    4. transmembrane transport Source: Reactome

    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

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 transporterPRO_0000213351Add
    BLAST

    Proteomic databases

    MaxQBiP78382.
    PaxDbiP78382.
    PRIDEiP78382.

    Expressioni

    Gene expression databases

    BgeeiP78382.
    CleanExiHS_SLC35A1.
    GenevestigatoriP78382.

    Interactioni

    Protein-protein interaction databases

    BioGridi115810. 1 interaction.
    STRINGi9606.ENSP00000358565.

    Structurei

    3D structure databases

    ProteinModelPortaliP78382.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 99CytoplasmicSequence Analysis
    Topological domaini31 – 4515LumenalSequence AnalysisAdd
    BLAST
    Topological domaini65 – 8723CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini109 – 1135LumenalSequence Analysis
    Topological domaini136 – 1416CytoplasmicSequence Analysis
    Topological domaini161 – 17515LumenalSequence AnalysisAdd
    BLAST
    Topological domaini197 – 21216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini229 – 24315LumenalSequence AnalysisAdd
    BLAST
    Topological domaini263 – 27210CytoplasmicSequence Analysis
    Topological domaini292 – 2965LumenalSequence Analysis
    Topological domaini316 – 33722CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 3021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei46 – 6419HelicalSequence AnalysisAdd
    BLAST
    Transmembranei88 – 10821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei114 – 13522HelicalSequence AnalysisAdd
    BLAST
    Transmembranei142 – 16019HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei213 – 22816HelicalSequence AnalysisAdd
    BLAST
    Transmembranei244 – 26219HelicalSequence AnalysisAdd
    BLAST
    Transmembranei273 – 29119HelicalSequence AnalysisAdd
    BLAST
    Transmembranei297 – 31519HelicalSequence AnalysisAdd
    BLAST

    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. 1 PublicationVSP_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

    BioGridi 115810. 1 interaction.
    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

    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: October 1, 2014
    This is version 130 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