GALNTL6 - polypeptide N-acetylgalactosaminyltransferase like 6 Gene

Also Known as GALNT17; GALNACT20; GalNAc-T6L

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 442117

About GALNTL6

Cytogenetic location: 4q34.1 Genomic coordinates (GRCh38): 4:171,813,404-173,041,559 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and 19 paralogues. Low expression observed in reference dataset.

Summary

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

GALNTL6 Products (1)

mRNA Protein Name
NM_001034845.3 NP_001030017.2 polypeptide N-acetylgalactosaminyltransferase-like 6
Molecular Function GO Annotation Evidence 参考文献 由来
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
IDA: Inferred from direct assay
22186971 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in protein O-linked glycosylation via threonine IDA
IDA: Inferred from direct assay
22186971 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

GALNTL6 Protein Structure

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (143 - 327)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (454 - 582)

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  • 601 a.a.
Protein Preferred Names Protein Names

polypeptide N-acetylgalactosaminyltransferase-like 6

  • GaNTase 17

関連疾患

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

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

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus GALNTL6 MGD MGI:1913581
Rattus norvegicus GALNTL6 RGD RGD:1564773
Canis familiaris GALNTL6 VGNC VGNC:59080
Macaca mulatta GALNTL6 VGNC VGNC:72813
Felis catus GALNTL6 VGNC VGNC:107336
Bos taurus GALNTL6 VGNC VGNC:29238
Others GALNTL6 NCBI