National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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|---|---|
| Protein Name | Probable C-mannosyltransferase DPY19L2 |
| Accession Code | Q6NUT2 |
| Gene | DPY19L2 |
| Organism | Homo sapiens | Human (Taxonomy: 9606) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 758) |
Description |
Position in the Nuclear Envelope |
|
|---|---|---|
| Location | Location ID | Description |
| Nuclear Envelope | SL-0178 | The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space. |
| Nuclear Inner Membrane | SL-0179 | The inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina. |
| Nuclear Membrane | SL-0182 | The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane. | Membrane Topology |
| Topology | Source | Annotation Type |
| Transmembrane | UniProt | Sequence Analysis {ECO:0000255} | Assigned Ontology terms |
Description |
|
|---|---|
| Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. {By SimilarityUniProtKB:P34413}. Required during spermatogenesis for sperm head elongation and acrosome formation (PubMed:21397063, PubMed:21397064). Also plays a role in acrosome attachment to the nuclear envelope (By similarity). {By SimilarityUniProtKB:P0CW70, Experimental EvidencePubMed:21397063, Experimental EvidencePubMed:21397064}. | Assigned Ontology terms |
Description |
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|---|---|
| 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. {Experimental EvidencePubMed:21397063, Experimental EvidencePubMed:21397064}. Note=The disease is caused by variants affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9. | Database Associations |
| OMIM | 613893 613958 |
| DisGeNET | 283417 |
Interactions with Nuclear Envelope proteins (1 interactors) |
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|---|---|---|---|
Interactions with other proteins (4 interactors) |
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Database | Links |
| UNIPROT | Q6NUT2 A4FVC1 B4E191 Q3ZCX2 Q6UWG8 Q96LZ9 |
| Pfam | PF10034 |
| OMIM | 613893 613958 |
| DisGeNET | 283417 |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory