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Q96A29

- FUCT1_HUMAN

UniProt

Q96A29 - FUCT1_HUMAN

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Protein

GDP-fucose transporter 1

Gene

SLC35C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  1. carbohydrate transport Source: UniProtKB-KW
  2. lipid glycosylation Source: Ensembl
  3. negative regulation of Notch signaling pathway Source: Ensembl
  4. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22151. Transport of nucleotide sugars.

Protein family/group databases

TCDBi2.A.7.16.1. the drug/metabolite transporter (dmt) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
GDP-fucose transporter 1
Alternative name(s):
Solute carrier family 35 member C1
Gene namesi
Name:SLC35C1
Synonyms:FUCT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:20197. SLC35C1.

Subcellular locationi

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti147 – 1471R → C in CDG2C. 2 Publications
Corresponds to variant rs28939087 [ dbSNP | Ensembl ].
VAR_012347
Natural varianti308 – 3081T → R in CDG2C. 1 Publication
Corresponds to variant rs28937886 [ dbSNP | Ensembl ].
VAR_012348

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi266265. phenotype.
Orphaneti99843. Leukocyte adhesion deficiency type II.
PharmGKBiPA134930330.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 364364GDP-fucose transporter 1PRO_0000213391Add
BLAST

Proteomic databases

MaxQBiQ96A29.
PaxDbiQ96A29.
PRIDEiQ96A29.

PTM databases

PhosphoSiteiQ96A29.

Expressioni

Gene expression databases

BgeeiQ96A29.
CleanExiHS_SLC35C1.
ExpressionAtlasiQ96A29. baseline and differential.
GenevestigatoriQ96A29.

Interactioni

Protein-protein interaction databases

BioGridi120624. 1 interaction.
STRINGi9606.ENSP00000313318.

Structurei

3D structure databases

ProteinModelPortaliQ96A29.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei34 – 5623HelicalSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Transmembranei111 – 13020HelicalSequence AnalysisAdd
BLAST
Transmembranei140 – 16223HelicalSequence AnalysisAdd
BLAST
Transmembranei167 – 18519HelicalSequence AnalysisAdd
BLAST
Transmembranei195 – 21420HelicalSequence AnalysisAdd
BLAST
Transmembranei227 – 24923HelicalSequence AnalysisAdd
BLAST
Transmembranei264 – 28623HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG258277.
GeneTreeiENSGT00390000013315.
HOGENOMiHOG000021132.
HOVERGENiHBG051670.
InParanoidiQ96A29.
KOiK15279.
OMAiVVSLYWV.
OrthoDBiEOG72G17G.
PhylomeDBiQ96A29.
TreeFamiTF354269.

Family and domain databases

InterProiIPR000620. DMT.
IPR004853. Tpt_PEP_trans_dom.
[Graphical view]
PfamiPF00892. EamA. 1 hit.
PF03151. TPT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96A29-1) [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

        10         20         30         40         50
MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV
60 70 80 90 100
TSISMVFLNK YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG
110 120 130 140 150
AVDFPSLRLD LRVARSVLPL SVVFIGMITF NNLCLKYVGV AFYNVGRSLT
160 170 180 190 200
TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG FWLGVDQEGA EGTLSWLGTV
210 220 230 240 250
FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI LFLPLLLLLG
260 270 280 290 300
ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG
310 320 330 340 350
TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE
360
EPSPKDSEKS AMGV
Length:364
Mass (Da):39,809
Last modified:December 1, 2001 - v1
Checksum:i2E659D49C5C5E92E
GO
Isoform 2 (identifier: Q96A29-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:351
Mass (Da):38,235
Checksum:i070ECFC1B614798C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti258 – 2581F → L in BAA92126. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491W → S.1 Publication
Corresponds to variant rs11538193 [ dbSNP | Ensembl ].
VAR_057302
Natural varianti147 – 1471R → C in CDG2C. 2 Publications
Corresponds to variant rs28939087 [ dbSNP | Ensembl ].
VAR_012347
Natural varianti240 – 2401I → V.
Corresponds to variant rs7130656 [ dbSNP | Ensembl ].
VAR_057303
Natural varianti308 – 3081T → R in CDG2C. 1 Publication
Corresponds to variant rs28937886 [ dbSNP | Ensembl ].
VAR_012348

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1313Missing in isoform 2. 1 PublicationVSP_047116Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS44575.1. [Q96A29-2]
CCDS7914.1. [Q96A29-1]
RefSeqiNP_001138737.1. NM_001145265.1. [Q96A29-2]
NP_001138738.1. NM_001145266.1. [Q96A29-2]
NP_060859.4. NM_018389.4. [Q96A29-1]
UniGeneiHs.12211.

Genome annotation databases

EnsembliENST00000314134; ENSP00000313318; ENSG00000181830. [Q96A29-1]
ENST00000442528; ENSP00000412408; ENSG00000181830. [Q96A29-2]
GeneIDi55343.
KEGGihsa:55343.
UCSCiuc001nbo.3. human. [Q96A29-1]

Polymorphism databases

DMDMi20138280.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SLC35C1base

SLC35C1 mutation db

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS44575.1. [Q96A29-2 ]
CCDS7914.1. [Q96A29-1 ]
RefSeqi NP_001138737.1. NM_001145265.1. [Q96A29-2 ]
NP_001138738.1. NM_001145266.1. [Q96A29-2 ]
NP_060859.4. NM_018389.4. [Q96A29-1 ]
UniGenei Hs.12211.

3D structure databases

ProteinModelPortali Q96A29.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120624. 1 interaction.
STRINGi 9606.ENSP00000313318.

Protein family/group databases

TCDBi 2.A.7.16.1. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSitei Q96A29.

Polymorphism databases

DMDMi 20138280.

Proteomic databases

MaxQBi Q96A29.
PaxDbi Q96A29.
PRIDEi Q96A29.

Protocols and materials databases

DNASUi 55343.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314134 ; ENSP00000313318 ; ENSG00000181830 . [Q96A29-1 ]
ENST00000442528 ; ENSP00000412408 ; ENSG00000181830 . [Q96A29-2 ]
GeneIDi 55343.
KEGGi hsa:55343.
UCSCi uc001nbo.3. human. [Q96A29-1 ]

Organism-specific databases

CTDi 55343.
GeneCardsi GC11P045826.
HGNCi HGNC:20197. SLC35C1.
MIMi 266265. phenotype.
605881. gene.
neXtProti NX_Q96A29.
Orphaneti 99843. Leukocyte adhesion deficiency type II.
PharmGKBi PA134930330.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG258277.
GeneTreei ENSGT00390000013315.
HOGENOMi HOG000021132.
HOVERGENi HBG051670.
InParanoidi Q96A29.
KOi K15279.
OMAi VVSLYWV.
OrthoDBi EOG72G17G.
PhylomeDBi Q96A29.
TreeFami TF354269.

Enzyme and pathway databases

Reactomei REACT_22151. Transport of nucleotide sugars.

Miscellaneous databases

ChiTaRSi SLC35C1. human.
GeneWikii SLC35C1.
GenomeRNAii 55343.
NextBioi 59671.
PROi Q96A29.
SOURCEi Search...

Gene expression databases

Bgeei Q96A29.
CleanExi HS_SLC35C1.
ExpressionAtlasi Q96A29. baseline and differential.
Genevestigatori Q96A29.

Family and domain databases

InterProi IPR000620. DMT.
IPR004853. Tpt_PEP_trans_dom.
[Graphical view ]
Pfami PF00892. EamA. 1 hit.
PF03151. TPT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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.

Entry informationi

Entry nameiFUCT1_HUMAN
AccessioniPrimary (citable) accession number: Q96A29
Secondary accession number(s): B2RDB2, Q9BV76, Q9NUJ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 125 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 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3