DPY19L2
entrez
283417
canonical
uniprot
Q6NUT2
canonical
ensembl
ENSG00000177990
resolver
ensp
ENSP00000315988
resolver
ensp
ENSP00000552349
resolver
ensp
ENSP00000552351
resolver
ensp
ENSP00000631091
resolver
ensp
ENSP00000658912
resolver
ensp
ENSP00000658914
resolver
ensp
ENSP00000698935
resolver
ensp
ENSP00000698937
resolver
ensp
ENSP00000698940
resolver
ensp
ENSP00000698942
resolver
ensp
ENSP00000773739
resolver
ensp
ENSP00000776418
resolver
ensp
ENSP00000776419
resolver
ensp
ENSP00000785170
resolver
genesymbol
DPY19L2
resolver
hgnc
HGNC:19414
resolver
uniprot
A4FVC1
resolver
uniprot
B4E191
resolver
uniprot
Q3ZCX2
resolver
uniprot
Q6UWG8
resolver
uniprot
Q96LZ9
resolver
uniprot_entry
D19L2_HUMAN
resolver
uniprot_sec
A4FVC1
resolver
uniprot_sec
B4E191
resolver
uniprot_sec
Q3ZCX2
resolver
uniprot_sec
Q6UWG8
resolver
uniprot_sec
Q96LZ9
resolver
amino_acid_sequence
MRKQGVSSKRLQSSGRSQSKGRRGASLAREPEVEEEMEKSALGGGKLPRGSWRSSPGRIQSLKERKGLELEVVAKTFLLGPFQFVRNSLAQLREKVQELQARRFSSRTTLGIAVFVAILHWLHLVTLFENDRHFSHLSSLEREMTFRTEMGLYYSYFKTIIEAPSFLEGLWMIMNDRLTEYPLIINAIKRFHLYPEVIIASWYCTFMGIMNLFGLETKTCWNVTRIEPLNEVQSCEGLGDPACFYVGVIFILNGLMMGLFFMYGAYLSGTQLGGLITVLCFFFNHGEATRVMWTPPLRESFSYPFLVLQMCILTLILRTSSNDRRPFIALCLSNVAFMLPWQFAQFILFTQIASLFPMYVVGYIEPSKFQKIIYMNMISVTLSFILMFGNSMYLSSYYSSSLLMTWAIILKRNEIQKLGVSKLNFWLIQGSAWWCGTIILKFLTSKILGVSDHIRLSDLIAARILRYTDFDTLIYTCAPEFDFMEKATPLRYTKTLLLPVVMVITCFIFKKTVRDISYVLATNIYLRKQLLEHSELAFHTLQLLVFTALAILIMRLKMFLTPHMCVMASLICSRQLFGWLFRRVRFEKVIFGILTVMSIQGYANLRNQWSIIGEFNNLPQEELLQWIKYSTTSDAVFAGAMPTMASIKLSTLHPIVNHPHYEDADLRARTKIVYSTYSRKSAKEVRDKLLELHVNYYVLEEAWCVVRTKPGCSMLEIWDVEDPSNAANPPLCSVLLEDARPYFTTVFQNSVYRVLKVN
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:33108537}. Note=The disease is caused by variants affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. {ECO:0000250|UniProtKB:P34413}.; FUNCTION: 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}.
uniprot
proteins
mass_dalton
87374
uniprot
proteins
protein_family
Dpy-19 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16526957
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
21397063
uniprot
proteins
pubmed
21397064
uniprot
proteins
pubmed
33108537
uniprot
proteins
sequence_length
758
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins
transmembrane_region
TRANSMEM 108..128; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 195..215; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 242..262; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 297..317; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 344..364; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 372..392; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 423..443; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 489..509; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 534..554; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins