Version 5.4
Homo sapiens Protein: DPY19L2
Summary
InnateDB Protein IDBP-44598.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DPY19L2
Protein Name dpy-19-like 2 (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000315988
InnateDB Gene IDBG-44596 (DPY19L2)
Protein Structure
UniProt Annotation
Function Probable C-mannosyltransferase that mediates C- mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation. {ECO:0000250, ECO:0000269PubMed:21397063, ECO:0000269PubMed:21397064}.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Spermatogenic failure 9 (SPGF9) [MIM:613958]: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. {ECO:0000269PubMed:21397063, ECO:0000269PubMed:21397064}. Note=The disease is caused by mutations affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.
Tissue Specificity Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at protein level). {ECO:0000269PubMed:16526957, ECO:0000269PubMed:21397064}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0007275 multicellular organismal development
GO:0007286 spermatid development
GO:0008152 metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR018732 Dpy-19
PFAM PF10034
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6NUT2
PhosphoSite PhosphoSite-Q6NUT2
TrEMBL F5H4G6
UniProt Splice Variant
Entrez Gene 283417
UniGene Hs.690157
RefSeq NP_776173
HUGO HGNC:19414
OMIM 613893
CCDS CCDS31851
HPRD 08151
IMGT
EMBL AC027667 AK057511 AK303727 AY358792 BC031225 BC068442 BC125215 BC125216
GenPept AAH31225 AAH68442 AAI25216 AAI25217 AAQ89152 BAB71515 BAG64703

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca