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Q9Y2D2 (S35A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-N-acetylglucosamine transporter
Alternative name(s):
Golgi UDP-GlcNAc transporter
Solute carrier family 35 member A3
Gene names
Name:SLC35A3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length325 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides. Ref.1

Subunit structure

Interacts with SLC35A2. Ref.7

Subcellular location

Golgi apparatus membrane; Multi-pass membrane protein Ref.1.

Involvement in disease

Arthrogryposis, mental retardation, and seizures (AMRS) [MIM:615553]: A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.
Note: The disease is caused by mutations affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms. Ref.8

Sequence similarities

Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2D2-1)

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: Q9Y2D2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSRSVLSPVVGTDAPDQHLELKKPQELKEMERLPLANEDKTM
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9Y2D2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     212-220: GFFGSIFGL → VSFSLEPSL
     221-325: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 325325UDP-N-acetylglucosamine transporter
PRO_0000213357

Regions

Transmembrane8 – 2417Helical; Potential
Transmembrane42 – 5817Helical; Potential
Transmembrane138 – 15417Helical; Potential
Transmembrane173 – 18917Helical; Potential
Transmembrane209 – 22517Helical; Potential
Transmembrane246 – 26217Helical; Potential
Transmembrane268 – 28417Helical; Potential
Transmembrane295 – 31117Helical; Potential

Natural variations

Alternative sequence11M → MSSRSVLSPVVGTDAPDQHL ELKKPQELKEMERLPLANED KTM in isoform 2.
VSP_012786
Alternative sequence212 – 2209GFFGSIFGL → VSFSLEPSL in isoform 3.
VSP_054232
Alternative sequence221 – 325105Missing in isoform 3.
VSP_054233

Sequences

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

Last modified November 1, 1999. Version 1.
Checksum: 69DFD944E37206C8

FASTA32535,985
        10         20         30         40         50         60 
MFANLKYVSL GILVFQTTSL VLTMRYSRTL KEEGPRYLSS TAVVVAELLK IMACILLVYK 

        70         80         90        100        110        120 
DSKCSLRALN RVLHDEILNK PMETLKLAIP SGIYTLQNNL LYVALSNLDA ATYQVTYQLK 

       130        140        150        160        170        180 
ILTTALFSVS MLSKKLGVYQ WLSLVILMTG VAFVQWPSDS QLDSKELSAG SQFVGLMAVL 

       190        200        210        220        230        240 
TACFSSGFAG VYFEKILKET KQSVWIRNIQ LGFFGSIFGL MGVYIYDGEL VSKNGFFQGY 

       250        260        270        280        290        300 
NRLTWIVVVL QALGGLVIAA VIKYADNILK GFATSLSIIL STLISYFWLQ DFVPTSVFFL 

       310        320 
GAILVITATF LYGYDPKPAG NPTKA 

« Hide

Isoform 2 [UniParc].

Checksum: 74DAFC72A15E3E74
Show »

FASTA36740,685
Isoform 3 [UniParc].

Checksum: 1EDE61D54973288C
Show »

FASTA22024,545

References

« Hide 'large scale' references
[1]"Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter."
Ishida N., Yoshioka S., Chiba Y., Takeuchi M., Kawakita M.
J. Biochem. 126:68-77(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Colon carcinoma.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 3).
Tissue: Placenta.
[7]"UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane."
Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.
FEBS Lett. 586:4082-4087(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SLC35A2.
[8]"Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis."
Edvardson S., Ashikov A., Jalas C., Sturiale L., Shaag A., Fedick A., Treff N.R., Garozzo D., Gerardy-Schahn R., Elpeleg O.
J. Med. Genet. 50:733-739(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AMRS.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB021981 mRNA. Translation: BAA77841.1.
AK290573 mRNA. Translation: BAF83262.1.
CR749816 mRNA. Translation: CAH18676.1.
AC118553 Genomic DNA. No translation available.
CH471097 Genomic DNA. Translation: EAW72977.1.
CH471097 Genomic DNA. Translation: EAW72978.1.
CH471097 Genomic DNA. Translation: EAW72979.1.
BC005136 mRNA. Translation: AAH05136.1.
CCDSCCDS762.1. [Q9Y2D2-1]
RefSeqNP_001258613.1. NM_001271684.1. [Q9Y2D2-3]
NP_001258614.1. NM_001271685.1. [Q9Y2D2-2]
NP_036375.1. NM_012243.2. [Q9Y2D2-1]
XP_005270748.1. XM_005270691.2. [Q9Y2D2-1]
UniGeneHs.448979.
Hs.534953.

3D structure databases

ProteinModelPortalQ9Y2D2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117010. 3 interactions.
IntActQ9Y2D2. 3 interactions.
MINTMINT-4781806.
STRING9606.ENSP00000359174.

Protein family/group databases

TCDB2.A.7.12.7. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSiteQ9Y2D2.

Polymorphism databases

DMDM9087207.

Proteomic databases

MaxQBQ9Y2D2.
PaxDbQ9Y2D2.
PRIDEQ9Y2D2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370153; ENSP00000359172; ENSG00000117620.
ENST00000370155; ENSP00000359174; ENSG00000117620. [Q9Y2D2-1]
ENST00000427993; ENSP00000414947; ENSG00000117620. [Q9Y2D2-1]
ENST00000465289; ENSP00000418527; ENSG00000117620.
ENST00000533028; ENSP00000433849; ENSG00000117620. [Q9Y2D2-1]
GeneID23443.
KEGGhsa:23443.
UCSCuc001dsp.2. human. [Q9Y2D2-1]
uc001dsr.2. human. [Q9Y2D2-2]

Organism-specific databases

CTD23443.
GeneCardsGC01P100435.
HGNCHGNC:11023. SLC35A3.
HPAHPA015253.
MIM605632. gene.
615553. phenotype.
neXtProtNX_Q9Y2D2.
Orphanet370943. Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
PharmGKBPA35891.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0697.
HOGENOMHOG000216649.
HOVERGENHBG054025.
InParanoidQ9Y2D2.
KOK15272.
OrthoDBEOG7NCV4D.
PhylomeDBQ9Y2D2.
TreeFamTF315345.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9Y2D2.
BgeeQ9Y2D2.
CleanExHS_SLC35A3.
GenevestigatorQ9Y2D2.

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

ChiTaRSSLC35A3. human.
GenomeRNAi23443.
NextBio45719.
PROQ9Y2D2.
SOURCESearch...

Entry information

Entry nameS35A3_HUMAN
AccessionPrimary (citable) accession number: Q9Y2D2
Secondary accession number(s): A8K3F8 expand/collapse secondary AC list , D3DT54, Q68CR2, Q9BSB7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 116 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 1

Human chromosome 1: entries, gene names and cross-references to MIM