SLC35D1 - solute carrier family 35 member D1 Gene

Also Known as SHNKND; UGTREL7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23169

About SLC35D1

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:66,972,976-67,054,148 (from NCBI)

This gene has 1 transcript (splice variant), 261 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 14.1), colon (RPKM 11.9) and 24 other tissues.

Summary

Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]

SLC35D1 Products (1)

mRNA	Protein	Name
NM_015139.3	NP_055954.1	UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables antiporter activity	IDA IDA: Inferred from direct assay	31423530	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in pyrimidine nucleotide-sugar transmembrane transport	IDA IDA: Inferred from direct assay	31423530	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

SLC35D1 Protein Structure

TPT

0
100
200
300
355 a.a.

Protein Preferred Names	Protein Names
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter	UDP-GlcA/UDP-GalNAc transporter

Related Diseases

Diseases	Alias
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
Atelosteogenesis	Atelosteogenesis, Type 1
Achondrogenesis	Achondrogenesis Syndrome
Boomerang Dysplasia	BOOMD Boomerang-Like Skeletal Dysplasia Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies Piepkorn Dysplasia Dysplasia, Boomerang
Spondylometaphyseal Dysplasia, Sedaghatian Type	SMDS Sedaghatian Chondrodysplasia Spondylometaphyseal Dysplasia Sedaghatian Type Congenital Lethal Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia, Congenital Lethal Lethal Metaphyseal Dysplasia
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
Spondyloperipheral Dysplasia	Spondyloperipheral Dysplasia With Short Ulna Spondyloperipheral Dysplasia-Short Ulna Syndrome SPD Dysplasia, Spondyloperipheral Spondyloperipheral Dysplasia Short Ulna
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
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Desbuquois Dysplasia	Desbuquois Syndrome Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification Dysplasia, Desbuquois
Kniest Dysplasia	Kniest Syndrome Metatropic Dwarfism, Type Ii Kniest Chondrodystrophy Metatropic Dysplasia Type Ii Swiss Cheese Cartilage Dysplasia KD Ks Metatropic Dwarfism Type Ii Dysplasia, Kniest
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Xylosylprotein 4-Beta-Galactosyltransferase Deficiency Xgpt Deficiency EDSSPD1 Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies Edssla Proteodermatan Sulfate, Defective Biosynthesis Of Pds, Defective Biosynthesis Of Dermatan Sulfate Proteoglycan Galactosyltransferase I Deficiency Ehlers-Danlos Syndrome Spondylodysplastic Type 1 Spondylodysplastic Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly Edsp1, Formerly Ehlers-Danlos Syndrome, Progeroid Type Galactosyltransferase 1 Deficiency Spondylodysplastic Eds Speds Defective Biosynthesis Of Pds Defective Biosynthesis Of Proteodermatan Sulfate Edsp1 Ehlers-Danlos Syndrome, Progeroid Type, 1 Proteodermatan Sulfate Defective Biosynthesis Of Ehlers-Danlos, Spondylodysplastic Syndrome Ehlers-Danlos Syndrome, Progeroid Form
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome Smed-Sl Smed-Sl/Ac Smed Short Limb-Abnormal Calcification Type Smed Short Limb-Hand Type Spondylometaepiphyseal Dysplasia Short Limb-Hand Type Smed, Type Ii Smed Type 2 Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type Smed, Short Limb-Hand Type Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type Smed, Short Limb-Abnormal Calcification Type Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type SEMD-SL Smed Type Ii Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
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
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Eiken Syndrome	Eiken Skeletal Dysplasia Bone Modeling Defect Of Hands And Feet EKNS
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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

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-RS13201	SLC35D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC35D1	VGNC	VGNC:65327
Macaca mulatta	SLC35D1	VGNC	VGNC:77535
Bos taurus	SLC35D1	VGNC	VGNC:34828
Rattus norvegicus	SLC35D1	RGD	RGD:1309843
Canis familiaris	SLC35D1	VGNC	VGNC:46370
Mus musculus	SLC35D1	MGD	MGI:2140361
Others	SLC35D1	NCBI