SLC35C1 - solute carrier family 35 member C1 Gene

Also Known as CDG2C; FUCT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55343

About SLC35C1

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,804,072-45,813,016 (from NCBI)

This gene has 4 transcripts (splice variants), 192 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 13.7), small intestine (RPKM 9.0) and 25 other tissues.

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]

SLC35C1 Products (3)

mRNA	Protein	Name
NM_001145265.2	NP_001138737.1	GDP-fucose transporter 1 isoform b
NM_001145266.1	NP_001138738.1	GDP-fucose transporter 1 isoform b
NM_018389.5	NP_060859.4	GDP-fucose transporter 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GDP-fucose transmembrane transporter activity	IDA IDA: Inferred from direct assay	27738779	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GDP-fucose import into Golgi lumen	IDA IDA: Inferred from direct assay	11326280	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	11326279	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC35C1 Protein Structure

EamA

TPT

0
100
200
300
364 a.a.

Protein Preferred Names	Protein Names
GDP-fucose transporter 1	solute carrier family 35 (GDP-fucose transporter), member C1

SLC35C1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC35C1	Q96A29	APOD	Homo sapiens	P05090	Anti Tag CoIP	33961781
Intra	SLC35C1	Q96A29	APOD	Homo sapiens	P05090	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iic	CDG2C Congenital Disorder Of Glycosylation Type Iic Leukocyte Adhesion Deficiency Type Ii Cdg Iic Cdgiic Rambam-Hasharon Syndrome Leukocyte Adhesion Deficiency, Type Ii Lad2 Leukocyte Adhesion Deficiency 2 Cdg-Iic Congenital Disorder Of Glycosylation, Type 2c Rhs Cdg Syndrome Type Iic Lad-Ii Rambam Hasharon Syndrome Congenital Disorder Of Glycosylation 2c Glycosylation, Congenital Disorder Of, Type Iic
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Congenital Disorder Of Glycosylation, Type Iik	CDG2K Congenital Disorder Of Glycosylation Type Iik Cdg Iik Cdgiik Carbohydrate Deficient Glycoprotein Syndrome Type Iik Cdg Syndrome Type Iik Congenital Disorder Of Glycosylation Type 2k Tmem165-Cdg Cdg-Iik Cdgiidk Congenital Disorder Of Glycosylation 2k Glycosylation, Congenital Disorder Of, Type Iik
Congenital Disorder Of Glycosylation, Type Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Immunodeficiency 23	Cid Due To Pgm3 Deficiency Combined Immunodeficiency Due To Pgm3 Deficiency Pgm3-Cdg Pgm3-Related Congenital Disorder Of Glycosylation IMD23 Immunodeficiency With Hyper Ige And Cognitive Impairment Immunodeficiency-Vasculitis-Myoclonus Syndrome Ivms Phosphoglucomutase 3 Deficiency Phosphoglucomutase Deficiency Type 3 Pgm3-Congenital Disorder Of Glycosylation Agm1 Deficiency Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1 Deficiency Of Phosphoglucomutase 3 Pgm3 Deficiency Immunodeficiency, Type 23
Leukocyte Adhesion Deficiency, Type I	Leukocyte Adhesion Deficiency Leukocyte Adhesion Deficiency 1 LAD1 Lad Lymphocyte Function-Associated Antigen 1 Immunodeficiency Leukocyte Adhesion Deficiency Type I Leukocyte Adhesion Deficiency Type 1 Linear Iga Bullous Dermatosis Linear Iga Dermatosis Leukocyte-Adhesion Deficiency Syndrome Lfa1 Immunodeficiency Congenital Leukocyte Adherence Deficiency Lad-I Linear Iga Disease Leukocyte Adhesion Deficiency Syndrome Lad 1 Lfa 1 Immunodeficiency Linear Immunoglobulin A Dermatosis Leucocyte Adhesion Deficiency Type 1 Leukocyte Adhesion Molecule Deficiency Type 1
Congenital Disorder Of Glycosylation, Type Iid	CDG2D Congenital Disorder Of Glycosylation Type Iid Cdg Iid Cdgiid B4galt1-Cdg Cdg-Iid Congenital Disorder Of Glycosylation Type 2d Beta-1,4-Galactosyltransferase Deficiency Cdg Syndrome Type Iid Carbohydrate Deficient Glycoprotein Syndrome Type Iid Congenital Disorder Of Glycosylation 2d Glycosylation, Congenital Disorder Of, Type Iid Congenital Disorder Of Glycosylation, Type Iiid
Congenital Disorder Of Glycosylation, Type Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
Frontonasal Dysplasia 2	FND2 Frontonasal Dysplasia With Alopecia And Genital Anomaly Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome Alx4-Related Fndag Craniofrontonasal Dysplasia With Alopecia And Hypogonadism Frontonasal Dysplasia Type 2 Frontonasal Dysplasia With Alopecia And Genital Abnomality Doid:0081046 Dysplasia, Frontonasal, Type 2
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Congenital Disorder Of Glycosylation, Type Iio	CDG2O Ccdc115-Cdg Cdg Iio Congenital Disorder Of Glycosylation Type Iio Cdgiio Carbohydrate Deficient Glycoprotein Syndrome Type Iio Cdg Syndrome Type Iio Congenital Disorder Of Glycosylation Type 2o Cdg-Iio Cdgiido Congenital Disorder Of Glycosylation 2o Glycosylation, Congenital Disorder Of, Type Iio
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Mgat2-Cdg Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Developmental And Epileptic Encephalopathy 42	DEE42 Epileptic Encephalopathy, Early Infantile, 42 Eiee42 Developmental And Epileptic Encephalopathy, 42 Early Infantile Epileptic Encephalopathy 42 Encephalopathy, Epileptic, Early Infantile, Type 42
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Leukocyte Adhesion Deficiency, Type Iii	Leukocyte Adhesion Deficiency 3 LAD3 Leukocyte Adhesion Deficiency 1 Variant Lad1v Integrin Activation Deficiency Disease Iadd Leukocyte Adhesion Deficiency Type Iii Lad1 Variant Lad-1 Variant Lad-Iii Leukocyte Adhesion Deficiency-1 Variant Leukocyte Adhesion Deficiency Type 1
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13200	SLC35C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC35C1	VGNC	VGNC:77524
Bos taurus	SLC35C1	VGNC	VGNC:34827
Canis familiaris	SLC35C1	VGNC	VGNC:46368
Rattus norvegicus	SLC35C1	RGD	RGD:1309463
Mus musculus	SLC35C1	MGD	MGI:2443301
Felis catus	SLC35C1	VGNC	VGNC:65325
Others	SLC35C1	NCBI