ID  Q6NUT2;
PN  Probable C-mannosyltransferase DPY19L2;
GN  DPY19L2;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0179;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus inner membrane {ECO:0000250|UniProtKB:P0CW70}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with DPY19L2 at the inner nuclear membrane. {ECO:0000250|UniProtKB:P0CW70}.
DR  UNIPROT: Q6NUT2;
DR  UNIPROT: A4FVC1;
DR  UNIPROT: B4E191;
DR  UNIPROT: Q3ZCX2;
DR  UNIPROT: Q6UWG8;
DR  UNIPROT: Q96LZ9;
DR  Pfam: PF10034;
DR  OMIM: 613893;
DR  OMIM: 613958;
DR  DisGeNET: 283417;
DE  Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. {ECO:0000250|UniProtKB: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). {ECO:0000250|UniProtKB:P0CW70, ECO:0000269|PubMed:21397063, ECO:0000269|PubMed:21397064}.
DE  Disease: 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:0000269|PubMed:21397063, ECO:0000269|PubMed: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.
DE  Reference Proteome: Yes;
DE  Interaction: P0DTC7; IntAct: EBI-26495729; Score: 0.35
DE  Interaction: Q16774; IntAct: EBI-21888393; Score: 0.40
DE  Interaction: P19739; IntAct: EBI-25685423; Score: 0.35
DE  Interaction: P0DTD8; IntAct: EBI-25687199; Score: 0.35
DE  Interaction: Q7TFA1; IntAct: EBI-25688644; Score: 0.35
GO  GO:0016021;
GO  GO:0005637;
GO  GO:0005634;
GO  GO:0000030;
GO  GO:0018406;
GO  GO:0007286;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MRKQGVSSKRLQSSGRSQSKGRRGASLAREPEVEEEMEKSALGGGKLPRGSWRSSPGRIQSLKERKGLELEVVAKTFLLG
SQ  PFQFVRNSLAQLREKVQELQARRFSSRTTLGIAVFVAILHWLHLVTLFENDRHFSHLSSLEREMTFRTEMGLYYSYFKTI
SQ  IEAPSFLEGLWMIMNDRLTEYPLIINAIKRFHLYPEVIIASWYCTFMGIMNLFGLETKTCWNVTRIEPLNEVQSCEGLGD
SQ  PACFYVGVIFILNGLMMGLFFMYGAYLSGTQLGGLITVLCFFFNHGEATRVMWTPPLRESFSYPFLVLQMCILTLILRTS
SQ  SNDRRPFIALCLSNVAFMLPWQFAQFILFTQIASLFPMYVVGYIEPSKFQKIIYMNMISVTLSFILMFGNSMYLSSYYSS
SQ  SLLMTWAIILKRNEIQKLGVSKLNFWLIQGSAWWCGTIILKFLTSKILGVSDHIRLSDLIAARILRYTDFDTLIYTCAPE
SQ  FDFMEKATPLRYTKTLLLPVVMVITCFIFKKTVRDISYVLATNIYLRKQLLEHSELAFHTLQLLVFTALAILIMRLKMFL
SQ  TPHMCVMASLICSRQLFGWLFRRVRFEKVIFGILTVMSIQGYANLRNQWSIIGEFNNLPQEELLQWIKYSTTSDAVFAGA
SQ  MPTMASIKLSTLHPIVNHPHYEDADLRARTKIVYSTYSRKSAKEVRDKLLELHVNYYVLEEAWCVVRTKPGCSMLEIWDV
SQ  EDPSNAANPPLCSVLLEDARPYFTTVFQNSVYRVLKVN
//