GALNTL5 (polypeptide N-acetylgalactosaminyltransferase like 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 168391
Gene name Polypeptide N-acetylgalactosaminyltransferase like 5
Gene symbol GALNTL5
Synonyms (NCBI Gene)
GALNACT19GALNT15GalNAc-T5L
Chromosome 7
Chromosome location 7q36.1
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT018714 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005768 Component Endosome IEA
GO:0005794 Component Golgi apparatus IBA
GO:0006486 Process Protein glycosylation IDA 24398516
GO:0007283 Process Spermatogenesis IEA
GO:0007286 Process Spermatid development IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615133 21725 ENSG00000106648
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z4T8
Protein name Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 (Polypeptide GalNAc transferase 15) (GalNAc-T15) (pp-GaNTase 15) (Protein-UDP acetylgalactosaminyltransferase 15) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15)
Protein function Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 137 → 323 Glycosyl transferase family 2 Family
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in testis. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:24398516}.
Sequence 
MRNAIIQGLFYGSLTFGIWTALLFIYLHHNHVSSWQKKSQEPLSAWSPGKKVHQQIIYGS
EQIPKPHVIVKRTDEDKAKSMLGTDFNHTNPELHKELLKYGFNVIISRSLGIEREVPDTR
SKMCLQKHYPARLPTASIVICFYNEECNALFQTMSSVTNLTPHYFLEEIILVDDMSKVDD
LKEKLDYHLETFRGKVKIIRNKKREGLIRARLIGASHASGDVLVFLDSHCEVNRVWLEPL
LHAIAKDPKMVVCPLIDVIDDRTLEYKPSPLVRGTFDWNLQFKWDNVFSYEMDGPEGSTK
PIRSPAMSGGIFAIRRHYFNEIGQYDKDMDFWGRENLELSLRIWMCGGQLFIIPCSRVGH
ISKKQTGKPSTIISAMTHNYLRLVHVWLDEYKEQFFLRKPGLKYVTYGNIRERVELRKRL
GCKSFQWYLDNVFPELEASVNSL
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility Likely pathogenic rs746301883 RCV001290740
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GALNTL5-related disorder Uncertain significance; Likely benign; Benign rs755106841, rs374944397, rs61729494, rs144786536 RCV004758266
RCV003897294
RCV003940502
RCV004758061
Ovarian serous cystadenocarcinoma Benign rs148273290 RCV005903192
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 30628500
Developmental Disabilities Associate 29061174
Exostoses Associate 34582124
Muscle Hypotonia Associate 34582124
Neoplasms Associate 33426787
Neurologic Manifestations Associate 34582124