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Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_018389 Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA. ORF Sequence $317.55
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RefSeq Version NM_018389.4, 223671914
Length 3531 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.
Product GDP-fucose transporter 1 isoform a
Comment

Summary: This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).


##Evidence-Data-START## Transcript exon combination :: AK074929.1, AF326199.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_060859.4
CDS 713..1807
Misc Feature(1)692..694
Misc Feature(2)812..880
Misc Feature(3)812..880
Misc Feature(4)854..1690
Misc Feature(5)938..1006
Misc Feature(6)1022..1285
Misc Feature(7)1043..1102
Misc Feature(8)1130..1198
Misc Feature(9)1211..1267
Misc Feature(10)1295..1354
Misc Feature(11)1391..1459
Misc Feature(12)1502..1570
Exon (1)1..1247
Gene:SLC35C1
Gene Synonym:CDG2C; FUCT1
Exon (2)1248..3488
Gene:SLC35C1
Gene Synonym:CDG2C; FUCT1
Translation MNRAPLKRSRILHMALTGASDPSAEAEANGEKPFLLRALQIALVVSLYWVTSISMVFLNK YLLDSPSLRLDTPIFVTFYQCLVTTLLCKGLSALAACCPGAVDFPSLRLDLRVARSVLPL SVVFIGMITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYLLLKQTTSFYALLTCGIIIGG FWLGVDQEGAEGTLSWLGTVFGVLASLCVSLNAIYTTKVLPAVDGSIWRLTFYNNVNACI LFLPLLLLLGELQALRDFAQLGSAHFWGMMTLGGLFGFAIGYVTGLQIKFTSPLTHNVSG TAKACAQTVLAVLYYEETKSFLWWTSNMMVLGGSSAYTWVRGWEMKKTPEEPSPKDSEKS AMGV
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Position Chain Variation Link
60+dbSNP:
60+c, tdbSNP:150274138
81+a, gdbSNP:77254044
410+c, gdbSNP:12289963
540+c, tdbSNP:78455013
584+a, cdbSNP:181710036
609+a, gdbSNP:187368323
699+a, gdbSNP:186564976
710+c, tdbSNP:3808976
790+a, gdbSNP:112575013
815+c, tdbSNP:12291397
858+c, gdbSNP:11538193
938+a, gdbSNP:200202916
966+c, tdbSNP:150215024
1021+c, tdbSNP:189405956
1024+a, cdbSNP:75224835
1077+a, tdbSNP:199663457
1151+c, tdbSNP:28939087
1234+c, tdbSNP:141379070
1246+c, tdbSNP:149296455
1268+dbSNP:
1268+a, gdbSNP:193920915
1310+a, gdbSNP:146971634
1342+a, gdbSNP:200577486
1357+c, tdbSNP:200626011
1363+a, gdbSNP:138126275
1375+a, gdbSNP:111773874
1380+g, tdbSNP:188712245
1418+a, gdbSNP:200146272
1430+a, gdbSNP:7130656
1460+a, gdbSNP:148606857
1527+c, tdbSNP:200318351
1601+a, gdbSNP:112375833
1609+a, gdbSNP:141170131
1615+g, tdbSNP:150743224
1635+c, gdbSNP:28937886
1637+a, gdbSNP:139119538
1708+c, tdbSNP:144046143
1759+a, gdbSNP:113735964
1766+c, tdbSNP:145613857
1767+a, cdbSNP:200843978
1856+a, gdbSNP:1139266
1988+a, cdbSNP:4362111
1998+a, cdbSNP:140259547
2125+c, tdbSNP:145216107
2145+c, tdbSNP:186869966
2221+a, gdbSNP:1139267
2269+a, gdbSNP:137953810
2524+c, tdbSNP:114787245
2549+c, tdbSNP:115462540
2550+a, gdbSNP:116113868
2658+c, gdbSNP:190447495
2762+a, cdbSNP:76564550
2781+c, gdbSNP:182686187
2875+c, gdbSNP:11538194
2881+c, tdbSNP:4756026
2894+c, tdbSNP:142419368
2934+a, gdbSNP:187013469
2965+c, tdbSNP:4756027
2991+a, gdbSNP:112917705
3015+a, gdbSNP:115509471
3049+a, tdbSNP:12291045
3119+c, tdbSNP:7943306
3122+c, tdbSNP:55758172
3129+a, gdbSNP:148127105
3131+a, gdbSNP:191299403
3132+a, gdbSNP:182393230
3211+a, gdbSNP:142012266
3375+c, tdbSNP:150704136
3376+c, gdbSNP:139986610
3387+c, tdbSNP:10838518
3389+c, gdbSNP:189120012
3443+a, gdbSNP:79173599
Gene SymbolSLC35C1
Gene SynonymCDG2C; FUCT1
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001145265 Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 2, mRNA. Full Length $1139.95
ORF Sequence $306.24
NM_001145266 Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 3, mRNA. Full Length $1106.00
ORF Sequence $306.24
NM_018389 Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA. Full Length $1235.85
ORF Sequence $317.55
Title Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant .
Author Zhang,P., Haryadi,R., Chan,K.F., Teo,G., Goh,J., Pereira,N.A., Feng,H. and Song,Z.
Journal Glycobiology 22 (7), 897-911 (2012)
Title Hematologically important mutations: leukocyte adhesion deficiency (first update) .
Author van de Vijver,E., Maddalena,A., Sanal,O., Holland,S.M., Uzel,G., Madkaikar,M., de Boer,M., van Leeuwen,K., Koker,M.Y., Parvaneh,N., Fischer,A., Law,S.K., Klein,N., Tezcan,F.I., Unal,E., Patiroglu,T., Belohradsky,B.H., Schwartz,K., Somech,R., Kuijpers,T.W. and Roos,D.
Journal Blood Cells Mol. Dis. 48 (1), 53-61 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title A high expression of GDP-fucose transporter in hepatocellular carcinoma is a key factor for increases in fucosylation .
Author Moriwaki,K., Noda,K., Nakagawa,T., Asahi,M., Yoshihara,H., Taniguchi,N., Hayashi,N. and Miyoshi,E.
Journal Glycobiology 17 (12), 1311-1320 (2007)
Title hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes .
Author Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M.
Journal Genomics 89 (3), 307-315 (2007)
Title Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter .
Author Helmus,Y., Denecke,J., Yakubenia,S., Robinson,P., Luhn,K., Watson,D.L., McGrogan,P.J., Vestweber,D., Marquardt,T. and Wild,M.K.
Journal Blood 107 (10), 3959-3966 (2006)
Title Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene .
Author Hidalgo,A., Ma,S., Peired,A.J., Weiss,L.A., Cunningham-Rundles,C. and Frenette,P.S.
Journal Blood 101 (5), 1705-1712 (2003)
Title Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency .
Author Lubke,T., Marquardt,T., Etzioni,A., Hartmann,E., von Figura,K. and Korner,C.
Journal Nat. Genet. 28 (1), 73-76 (2001)
Title The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter .
Author Luhn,K., Wild,M.K., Eckhardt,M., Gerardy-Schahn,R. and Vestweber,D.
Journal Nat. Genet. 28 (1), 69-72 (2001)

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