Galnt3
Gene Detail

Symbol Name ID

Galnt3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 MGI:894695

Synonyms

ppGaNTase-T3

Feature Type

protein coding gene

Genetic Map

Chromosome 2

38.99 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr2:66082766-66124994 bp, - strand From VEGA annotation of GRCm38   42229 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55827  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Galnt3

Human homologs

Human Homolog		GALNT3, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
NCBI Gene ID		2591
neXtProt AC		NX_Q14435
Human Synonyms		GalNAc-T3, HFTC, HHS
Human Chr (Location)		2q24-q31; chr2:166604313-166650803 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(5) : Targeted(3) Gene trapped(1) Chemically induced(1)
 

Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.

 
Human Diseases Modeled Using Mouse Galnt3 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	protein O-linked glycosylation via serine, protein O-linked glycosylation via threonine
Component	cytoplasm, Golgi apparatus, ...
Function	calcium ion binding, manganese ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (103)    Tissues (102)    Images (10)
Theiler Stages: 11, 20, 22, 24

Assay Type	Results
RNA in situ	103

cDNA source data(73)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(74) cDNA(73) Primer pair(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000013003 (Evidence)
Ensembl Gene Model	ENSMUSG00000026994 (Evidence)
Entrez Gene	14425 (Evidence)
UniGene	439760
DFCI	TC1579663, TC1613957, TC1685051, TC1739721
DoTS	DT.524355, DT.91330028, DT.94251897
NIA Mouse Gene Index	U022693
EC	2.4.1.41
Consensus CDS Project	CCDS16075.1
International Mouse Knockout Project Status	Galnt3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000013003	VEGA Gene Model | MGI Sequence Detail	42229	C57BL/6J
transcript	OTTMUST00000031330	VEGA | MGI Sequence Detail	3885	Not Applicable
polypeptide	OTTMUSP00000014011	VEGA | MGI Sequence Detail	633	Not Applicable

All sequences(35) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(200 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001173	Glycosyl transferase, family 2
InterPro	IPR000772	Ricin B lectin domain
Protein Ontology	PR:000007825	polypeptide N-acetylgalactosaminyltransferase 3

References

(Earliest) J:36626 Zara J, et al., Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3. Biochem Biophys Res Commun. 1996 Nov 1;228(1):38-44
(Latest) J:187064 Esapa CT, et al., A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis. PLoS One. 2012;7(8):e43205
All references(38)