GALNT17 - polypeptide N-acetylgalactosaminyltransferase 17 Gene

Also Known as GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64409

About GALNT17

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:71,132,144-71,713,599 (from NCBI)

This gene has 5 transcripts (splice variants), 249 orthologues and 19 paralogues. Biased expression in brain (RPKM 15.1), ovary (RPKM 6.4) and 12 other tissues.

Summary

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

GALNT17 Products (1)

mRNA Protein Name
NM_022479.3 NP_071924.1 polypeptide N-acetylgalactosaminyltransferase 17

GALNT17 Protein Structure

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (155 - 312)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (466 - 591)

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  • 598 a.a.
Protein Preferred Names Protein Names

polypeptide N-acetylgalactosaminyltransferase 17

  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws
Intellectual Developmental Disorder, X-Linked 108

  • MRX108

  • X-Linked Intellectual Developmental Disorder 108

  • Mental Retardation, X-Linked 108

  • Mental Retardation, X-Linked, Type 108
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

  • Hyperphosphatemic Familial Tumoral Calcinosis

  • Hftc

  • Hyperostosis-Hyperphosphatemia Syndrome

  • Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

  • Tumoral Calcinosis, Hyperphosphatemic, Familial

  • Phptc

  • Lipocalcinogranulomatosis

  • Morbus Teutschlaender

  • Hhs

  • Hyperostosis With Hyperphosphatemia

  • Cortical Hyperostosis With Hyperphosphatemia

  • Primary Hyperphosphatemic Tumoral Calcinosis

  • Familial Tumoral Calcinosis

  • HFTC1

  • Hypercalcemic Tumoral Calcinosis

  • Hyperphosphatemia Hyperostosis

  • Hyperphosphatemia Hyperostosis Syndrome

  • Hyperphosphatemia Tumoral Calcinosis

  • Tumoral Calcinosis

  • Calcinosis, Tumoral, With Hyperphosphatemia

  • Tumoral Calcinosis, Primary Hyperphosphatemic

  • Teutschlaender Disease, Familial

  • Familial Teutschlaender Disease

  • Tumoral Calcinosis With Hyperphosphatemia

  • Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

  • Ftc/Hhs

  • Familial Tumoral Calcinosis With Hyperphosphatemia

  • Teutschlaender Disease

  • Tumoral Calcinosis Primary Hyperphosphatemic

  • Calcinosis, Tumoral, Hyperphosphatemic, Familial
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
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 (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS05254 GALNT17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS05262 GALNTL6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GALNT17 VGNC VGNC:50029
Rattus norvegicus GALNT17 RGD RGD:1563452
Canis familiaris GALNT17 VGNC VGNC:41092
Macaca mulatta GALNT17 VGNC VGNC:72729
Felis catus GALNT17 VGNC VGNC:62449
Mus musculus GALNT17 MGD MGI:2137594
Others GALNT17 NCBI