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This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
GALNT7 (Polypeptide N-Acetylgalactosaminyltransferase 7) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT1.
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,TAS | -- |
GO:0005794 | Golgi apparatus | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mucin type O-glycan biosynthesis | ||
2 | Metabolism of proteins | ||
3 | O-linked glycosylation | ||
4 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | TAS | 10544240 |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006493 | protein O-linked glycosylation | IEA,TAS | 10544240 |
GO:0016266 | O-glycan processing | TAS | -- |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Lactosamine |
|
13000-25-4 |
|
|||
Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GALNT7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GALNT7 31 |
|
OneToOne | |
LOC102152620 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Galnt7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Galnt7 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GALNT7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GALNT7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GALNT7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GALNT7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GALNT7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galnt7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | galnt7 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | GalNAc-T2 30 31 |
|
OneToOne | |
CG2103 32 |
|
|
|||
CG6394 32 |
|
|
|||
CG7297 32 |
|
|
|||
CG7304 32 32 |
|
|
|||
CG7579 32 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000656 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | gly-7 30 31 32 |
|
OneToOne | |
Y45F10D.3 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35177744 | Benign: not provided | 173,302,131(+) |
T/C NM_017423.3(GALNT7):c.1233T>C (p.Ile411=) |
SYNONYMOUS_VARIANT,INTRON | |
rs61741158 | Benign: not provided | 173,314,029(+) |
G/T NM_017423.3(GALNT7):c.1461G>T (p.Ser487=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv9397n54 | CNV | gain | 21841781 |
esv24067 | CNV | loss | 19812545 |
esv3303175 | CNV | mobile element insertion | 20981092 |
esv3307933 | CNV | mobile element insertion | 20981092 |
esv3340436 | CNV | insertion | 20981092 |
esv3351993 | CNV | insertion | 20981092 |
esv3397362 | CNV | insertion | 20981092 |
esv3603210 | CNV | loss | 21293372 |
nsv1074239 | CNV | deletion | 25765185 |
nsv1120145 | OTHER | inversion | 24896259 |
nsv4610 | CNV | deletion | 18451855 |
nsv518900 | CNV | gain | 19592680 |
nsv527434 | CNV | gain | 19592680 |
nsv596224 | CNV | loss | 21841781 |
nsv596232 | CNV | gain | 21841781 |
No disorders were found for GALNT7 Gene.