CHST14 - carbohydrate sulfotransferase 14 Gene

Also Known as ATCS; D4ST1; EDSMC1; HNK1ST

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113189

About CHST14

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,470,984-40,473,158 (from NCBI)

This gene has 2 transcripts (splice variants), 142 orthologues, 6 paralogues and is associated with 3 phenotypes.

Summary

This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]

CHST14 Products (1)

mRNA	Protein	Name
NM_130468.4	NP_569735.1	carbohydrate sulfotransferase 14

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables N-acetylgalactosamine 4-O-sulfotransferase activity	IDA IDA: Inferred from direct assay	11470797	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	35156780	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within dermatan sulfate biosynthetic process	IDA IDA: Inferred from direct assay	11470797	GOA
involved in dermatan sulfate proteoglycan metabolic process	IDA IDA: Inferred from direct assay	11470797	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

CHST14 Protein Structure

Sulfotransfer_2

0
100
200
300
376 a.a.

Protein Preferred Names	Protein Names
carbohydrate sulfotransferase 14	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14

CHST14 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHST14	Q8NCH0	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ehlers-Danlos Syndrome, Musculocontractural Type 1 EDSMC1 Edsmc Adducted Thumb-Clubfoot Syndrome Atcs Dundar Syndrome Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis Ehlers-Danlos Syndrome Musculocontractural Type 1 Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome Ehlers-Danlos Syndrome, Type Vib, Formerly Eds6b, Formerly Adducted Thumbs-Arthrogryposis Dundar Type Arthrogryposis Distal With Peculiar Facies And Hydronephrosis Eds6b Formerly Ehlers-Danlos Syndrome Type Vib Formerly Ehlers-Danlos, Musculocontractural Syndrome, Type 1
Musculocontractural Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Musculocontractural Type Musculocontractural Eds Mceds Adducted Thumb Clubfoot Syndrome Autosomal Recessive Adducted Thumb-Club Foot Syndrome Adducted Thumb-Clubfoot Syndrome Distal Arthrogryposis With Peculiar Facies And Hydronephrosis Dundar Syndrome Ehlers-Danlos Syndrome, Kosho Type Ehlers-Danlos, Musculocontractural Syndrome Ehlers-Danlos Syndrome, Musculocontractural Type 1
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Ehlers-Danlos Syndrome, Musculocontractural Type 2 EDSMC2 Ehlers-Danlos Syndrome Musculocontractural Type 2 Ehlers-Danlos, Musculocontractural Syndrome, Type 2
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
Tricuspid Valve Prolapse
Congenital Contractures	Congenital Contracture
Temtamy Preaxial Brachydactyly Syndrome	Preaxial Brachydactyly Syndrome, Temtamy Type TPBS Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies Preaxial Brachydactyly Syndrome Temtamy Type
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Collagen Disease	Collagen Diseases Collagen Disorder
Larsen-Like Syndrome B3gat3 Type	Larsen-Like Syndrome, B3gat3 Type Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
Hypermobility Syndrome	Benign Joint Hypermobility
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Saul-Wilson Syndrome	Microcephalic Osteodysplastic Dysplasia Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type SWILS Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Desbuquois Dysplasia	Desbuquois Syndrome Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification Dysplasia, Desbuquois
Caspase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome Type 2b Caspase-8 Deficiency Ceds Alps2b Autoimmune Lymphoproliferative Syndrome, Type Iib Alps With Recurrent Viral Infections Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Caspase 8 Deficiency Syndrome Caspase 8 Lymphadenopathy Syndrome Autoimmune Lymphoproliferative Syndrome Type Iib Caspase Eight Deficiency State CASP8D
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Umbilical Hernia	Hernia, Umbilical
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Dysplasia, Spondyloepimetaphyseal, With Joint Laxity Semdjl Spondyloepimetaphyseal Dysplasia Joint Laxity Semd-Jl Semdjl1 Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness

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-RS02686	CHST14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CHST14	VGNC	VGNC:27342
Rattus norvegicus	CHST14	RGD	RGD:1585023
Canis familiaris	CHST14	VGNC	VGNC:54286
Mus musculus	CHST14	MGD	MGI:1919386
Macaca mulatta	CHST14	VGNC	VGNC:108290
Others	CHST14	NCBI