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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 (Polypeptide N-Acetylgalactosaminyltransferase 17) is a Protein Coding gene. Diseases associated with GALNT17 include Williams-Beuren Syndrome and Autism Spectrum Disorder. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. An important paralog of this gene is GALNT9.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J071130 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.4 | 383 | 3.7 | KDM1A POLR2A EZH2 RAD21 CTCF TAF1 TBP SP1 | GALNT17 piR-51229 | |
GH07J071220 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 31.8 | +88.6 | 88557 | 1.4 | CTCF KDM1A TCF12 NCOR1 NR2F1 TAL1 PRDM10 ZMYM3 TEAD4 CBFA2T2 | GALNT17 piR-36588-409 piR-50569 | |
GH07J070645 | Enhancer | 1.5 | UCNEbase FANTOM5 Ensembl ENCODE | 11.5 | -484.7 | -484743 | 5.2 | IKZF2 TRIM22 YY1 DPF2 RELB RUNX3 TCF12 FOS ZNF623 BCL11A | LOC107986708 GALNT17 piR-61253 RF00017-6271 | |
GH07J071225 | Enhancer | 0.3 | dbSUPER | 42.9 | +89.4 | 89449 | 0.4 | KDM1A ZMYM3 | GALNT17 piR-36588-409 piR-50569 | |
GH07J071224 | Enhancer | 0.2 | dbSUPER | 42.4 | +92.5 | 92525 | 0.2 | GALNT17 piR-36588-409 piR-50569 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004653 | polypeptide N-acetylgalactosaminyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mucin type O-glycan biosynthesis | ||
2 | Metabolism of proteins | ||
3 | O-linked glycosylation | ||
4 | Metabolism |
Symbol | External ID(s) | Details |
---|---|---|
C1GALT1 | ||
C1GALT1C1 | ||
ST6GALNAC1 | ||
B3GNT6 | ||
DPM1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Lactosamine |
|
13000-25-4 |
|
|||
UDP-N-acetyl-alpha-D-galactosamine |
|
|
||||
Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WBSCR17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WBSCR17 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wbscr17 30 31 |
|
OneToOne | |
Galnt17 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Wbscr17 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | WBSCR17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WBSCR17 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wbscr17 30 |
|
||
Str.13407 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | wbscr17 31 |
|
OneToOne | |
LOC567794 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7579 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gly-8 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
williams-beuren syndrome |
|
|
autism spectrum disorder |
|
|