Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Galnt17provided by MGI
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 17provided by MGI
Primary source: MGI:MGI:2137594
See related: Ensembl:ENSMUSG00000034040 AllianceGenome:MGI:2137594
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gcap8; Galnt19; Wbscr17; E330012B09Rik
Summary: Predicted to enable carbohydrate binding activity; metal ion binding activity; and polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; musculoskeletal system; and sensory organ. Orthologous to human GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in cerebellum adult (RPKM 7.1), cortex adult (RPKM 6.3) and 18 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5 G2; 5 70.66 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (130903181..131336360, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (130874343..131307522, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.
Title: Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.
Description of a mouse mutation, T(5G2;8A1)GSO, a reciprocal translocation that breaks between Auts2 and Galnt17 and dysregulates both genes and Is associated with phenotypes related to the human AUTS2 syndrome.
Title: A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome.
a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis
Title: A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

General gene information

Go to the top of the page Help

Markers

GDB:4585200 (e-PCR)
- UniSTS:21590

AA388321 (e-PCR), detects polymorphism
- UniSTS:228473

L10908 (e-PCR)
- UniSTS:159452

RH126334 (e-PCR)
- UniSTS:163042

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: polypeptide N-acetylgalactosaminyltransferase 17

Names: UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase; Williams-Beuren syndrome chromosome region 17 homolog; galNAc-T-like protein 3; granule cell antiserum positive 8; polypeptide GalNAc transferase-like protein 3; polypeptide N-acetylgalactosaminyltransferase-like 3; pp-GaNTase-like protein 3; protein-UDP acetylgalactosaminyltransferase-like protein 3; putative polypeptide N-acetylgalactosaminyltransferase-like protein 3; williams-Beuren syndrome chromosomal region 17 protein homolog

NP_660253.2

EC 2.4.1.41

XP_006504465.1

EC 2.4.1.41

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_145218.3 → NP_660253.2 polypeptide N-acetylgalactosaminyltransferase 17 precursor

See identical proteins and their annotated locations for NP_660253.2

Status: VALIDATED

Source sequence(s)

AC118926, BC069177

Consensus CDS

CCDS39296.1

UniProtKB/Swiss-Prot

Q7TT15, Q8BKN7, Q8BUY1, Q8BX73, Q8BZC8, Q8K483

UniProtKB/TrEMBL

Q59J92

Related

ENSMUSP00000083187.6, ENSMUST00000086023.13

Conserved Domains (2) summary

cd02510
Location:155 → 454

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

cd00161
Location:467 → 593

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

130903181..131336360 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504402.5 → XP_006504465.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X1

See identical proteins and their annotated locations for XP_006504465.1

Conserved Domains (2) summary

pfam00652
Location:141 → 267

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

cl11394
Location:1 → 130

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold