SLC35D1 - solute carrier family 35 member D1 Gene

Homo sapiens

Also known as SHNKND; UGTREL7

Gene ID: 23169 | Gene type: protein coding

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	Reference	Source
enables antiporter activity	IDA IDA: Inferred from direct assay	31423530	GOA

Biological Process GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13201	SLC35D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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