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Q96A29 (FUCT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
GDP-fucose transporter 1
Alternative name(s):
Solute carrier family 35 member C1
Gene names
Name:SLC35C1
Synonyms:FUCT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length364 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

Subcellular location

Golgi apparatus membrane; Multi-pass membrane protein.

Involvement in disease

Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2

Sequence similarities

Belongs to the TPT transporter family. SLC35C subfamily.

Sequence caution

The sequence BAA92126.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96A29-1)

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: Q96A29-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 364364GDP-fucose transporter 1
PRO_0000213391

Regions

Transmembrane34 – 5623Helical; Potential
Transmembrane76 – 9823Helical; Potential
Transmembrane111 – 13020Helical; Potential
Transmembrane140 – 16223Helical; Potential
Transmembrane167 – 18519Helical; Potential
Transmembrane195 – 21420Helical; Potential
Transmembrane227 – 24923Helical; Potential
Transmembrane264 – 28623Helical; Potential

Natural variations

Alternative sequence1 – 1313Missing in isoform 2.
VSP_047116
Natural variant491W → S. Ref.6
Corresponds to variant rs11538193 [ dbSNP | Ensembl ].
VAR_057302
Natural variant1471R → C in CDG2C. Ref.1 Ref.2
Corresponds to variant rs28939087 [ dbSNP | Ensembl ].
VAR_012347
Natural variant2401I → V.
Corresponds to variant rs7130656 [ dbSNP | Ensembl ].
VAR_057303
Natural variant3081T → R in CDG2C. Ref.2
Corresponds to variant rs28937886 [ dbSNP | Ensembl ].
VAR_012348

Experimental info

Sequence conflict2581F → L in BAA92126. Ref.3

Sequences

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

Last modified December 1, 2001. Version 1.
Checksum: 2E659D49C5C5E92E

FASTA36439,809
        10         20         30         40         50         60 
MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV TSISMVFLNK 

        70         80         90        100        110        120 
YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG AVDFPSLRLD LRVARSVLPL 

       130        140        150        160        170        180 
SVVFIGMITF NNLCLKYVGV AFYNVGRSLT TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG 

       190        200        210        220        230        240 
FWLGVDQEGA EGTLSWLGTV FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI 

       250        260        270        280        290        300 
LFLPLLLLLG ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG 

       310        320        330        340        350        360 
TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE EPSPKDSEKS 


AMGV 

« Hide

Isoform 2 [UniParc].

Checksum: 070ECFC1B614798C
Show »

FASTA35138,235

References

« Hide 'large scale' references
[1]"The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter."
Luehn K., Wild M.K., Eckhardt M., Gerardy-Schahn R., Vestweber D.
Nat. Genet. 28:69-72(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION, VARIANT CDG2C CYS-147.
[2]"Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency."
Luebke T., Marquardt T., Etzioni A., Hartmann E., von Figura K., Koerner C.
Nat. Genet. 28:73-76(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CDG2C CYS-147 AND ARG-308.
[3]"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] (ISOFORMS 1 AND 2).
Tissue: Mammary gland and Placenta.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(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 (JUL-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 1), VARIANT SER-49.
Tissue: Placenta.
+Additional computationally mapped references.

Web resources

SLC35C1base

SLC35C1 mutation db

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF323970 mRNA. Translation: AAK50397.1.
AF326199 mRNA. Translation: AAK51705.1.
AK027394 mRNA. Translation: BAB55080.1.
AK002182 mRNA. Translation: BAA92126.1. Different initiation.
AK315473 mRNA. Translation: BAG37859.1.
AC044839 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68031.1.
BC001427 mRNA. Translation: AAH01427.2.
CCDSCCDS44575.1. [Q96A29-2]
CCDS7914.1. [Q96A29-1]
RefSeqNP_001138737.1. NM_001145265.1. [Q96A29-2]
NP_001138738.1. NM_001145266.1. [Q96A29-2]
NP_060859.4. NM_018389.4. [Q96A29-1]
UniGeneHs.12211.

3D structure databases

ProteinModelPortalQ96A29.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000313318.

Protein family/group databases

TCDB2.A.7.16.1. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSiteQ96A29.

Polymorphism databases

DMDM20138280.

Proteomic databases

MaxQBQ96A29.
PaxDbQ96A29.
PRIDEQ96A29.

Protocols and materials databases

DNASU55343.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314134; ENSP00000313318; ENSG00000181830. [Q96A29-1]
ENST00000442528; ENSP00000412408; ENSG00000181830. [Q96A29-2]
ENST00000456334; ENSP00000399779; ENSG00000181830. [Q96A29-2]
GeneID55343.
KEGGhsa:55343.
UCSCuc001nbo.3. human. [Q96A29-1]

Organism-specific databases

CTD55343.
GeneCardsGC11P045826.
HGNCHGNC:20197. SLC35C1.
MIM266265. phenotype.
605881. gene.
neXtProtNX_Q96A29.
Orphanet99843. Leukocyte adhesion deficiency type II.
PharmGKBPA134930330.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG258277.
HOGENOMHOG000021132.
HOVERGENHBG051670.
InParanoidQ96A29.
KOK15279.
OMAVVSLYWV.
OrthoDBEOG72G17G.
PhylomeDBQ96A29.
TreeFamTF354269.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ96A29.
BgeeQ96A29.
CleanExHS_SLC35C1.
GenevestigatorQ96A29.

Family and domain databases

InterProIPR000620. DMT.
IPR004853. Tpt_PEP_trans_dom.
[Graphical view]
PfamPF00892. EamA. 1 hit.
PF03151. TPT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC35C1. human.
GeneWikiSLC35C1.
GenomeRNAi55343.
NextBio59671.
PROQ96A29.
SOURCESearch...

Entry information

Entry nameFUCT1_HUMAN
AccessionPrimary (citable) accession number: Q96A29
Secondary accession number(s): B2RDB2, Q9BV76, Q9NUJ8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 122 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM