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Protein

Probable C-mannosyltransferase DPY19L2

Gene

DPY19L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity2 Publications

Miscellaneous

It has been suggested that DPY19L2P1 is an inactive pseudogene from which DPY19L2 has evolved by duplication. However, expressed transcript sequences derived from the DPY19L2P1 locus are known to exist.

GO - Molecular functioni

  • mannosyltransferase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Probable C-mannosyltransferase DPY19L2 (EC:2.4.1.-)
Alternative name(s):
Dpy-19-like protein 2
Protein dpy-19 homolog 2
Gene namesi
Name:DPY19L2
ORF Names:UNQ3127/PRO10284
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000177990.11
HGNCiHGNC:19414 DPY19L2
MIMi613893 gene
neXtProtiNX_Q6NUT2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei108 – 128HelicalSequence analysisAdd BLAST21
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Transmembranei195 – 215HelicalSequence analysisAdd BLAST21
Transmembranei243 – 265HelicalSequence analysisAdd BLAST23
Transmembranei269 – 286HelicalSequence analysisAdd BLAST18
Transmembranei297 – 317HelicalSequence analysisAdd BLAST21
Transmembranei344 – 364HelicalSequence analysisAdd BLAST21
Transmembranei372 – 392HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21
Transmembranei489 – 509HelicalSequence analysisAdd BLAST21
Transmembranei534 – 554HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 9 (SPGF9)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.
Disease descriptionAn 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.
See also OMIM:613958

Organism-specific databases

DisGeNETi283417
MalaCardsiDPY19L2
MIMi613958 phenotype
OpenTargetsiENSG00000177990
Orphaneti171709 Male infertility due to globozoospermia
PharmGKBiPA142671949

Polymorphism and mutation databases

BioMutaiDPY19L2
DMDMi162416266

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003118791 – 758Probable C-mannosyltransferase DPY19L2Add BLAST758

Proteomic databases

EPDiQ6NUT2
MaxQBiQ6NUT2
PaxDbiQ6NUT2
PeptideAtlasiQ6NUT2
PRIDEiQ6NUT2
ProteomicsDBi66711

PTM databases

iPTMnetiQ6NUT2
PhosphoSitePlusiQ6NUT2

Expressioni

Tissue specificityi

Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000177990 Expressed in 135 organ(s), highest expression level in testis
CleanExiHS_DPY19L2
ExpressionAtlasiQ6NUT2 baseline and differential
GenevisibleiQ6NUT2 HS

Organism-specific databases

HPAiHPA071264

Interactioni

Protein-protein interaction databases

BioGridi129556, 1 interactor
STRINGi9606.ENSP00000315988

Structurei

3D structure databases

ProteinModelPortaliQ6NUT2
SMRiQ6NUT2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dpy-19 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4587 Eukaryota
ENOG410XRWN LUCA
GeneTreeiENSGT00530000063023
HOGENOMiHOG000007991
HOVERGENiHBG061402
InParanoidiQ6NUT2
OMAiNSMYRVL
OrthoDBiEOG091G02PL
PhylomeDBiQ6NUT2
TreeFamiTF313376

Family and domain databases

InterProiView protein in InterPro
IPR018732 Dpy-19/Dpy-19-like
IPR030042 DPY19L2
PANTHERiPTHR31488 PTHR31488, 1 hit
PTHR31488:SF6 PTHR31488:SF6, 1 hit
PfamiView protein in Pfam
PF10034 Dpy19, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6NUT2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRKQGVSSKR LQSSGRSQSK GRRGASLARE PEVEEEMEKS ALGGGKLPRG
60 70 80 90 100
SWRSSPGRIQ SLKERKGLEL EVVAKTFLLG PFQFVRNSLA QLREKVQELQ
110 120 130 140 150
ARRFSSRTTL GIAVFVAILH WLHLVTLFEN DRHFSHLSSL EREMTFRTEM
160 170 180 190 200
GLYYSYFKTI IEAPSFLEGL WMIMNDRLTE YPLIINAIKR FHLYPEVIIA
210 220 230 240 250
SWYCTFMGIM NLFGLETKTC WNVTRIEPLN EVQSCEGLGD PACFYVGVIF
260 270 280 290 300
ILNGLMMGLF FMYGAYLSGT QLGGLITVLC FFFNHGEATR VMWTPPLRES
310 320 330 340 350
FSYPFLVLQM CILTLILRTS SNDRRPFIAL CLSNVAFMLP WQFAQFILFT
360 370 380 390 400
QIASLFPMYV VGYIEPSKFQ KIIYMNMISV TLSFILMFGN SMYLSSYYSS
410 420 430 440 450
SLLMTWAIIL KRNEIQKLGV SKLNFWLIQG SAWWCGTIIL KFLTSKILGV
460 470 480 490 500
SDHIRLSDLI AARILRYTDF DTLIYTCAPE FDFMEKATPL RYTKTLLLPV
510 520 530 540 550
VMVITCFIFK KTVRDISYVL ATNIYLRKQL LEHSELAFHT LQLLVFTALA
560 570 580 590 600
ILIMRLKMFL TPHMCVMASL ICSRQLFGWL FRRVRFEKVI FGILTVMSIQ
610 620 630 640 650
GYANLRNQWS IIGEFNNLPQ EELLQWIKYS TTSDAVFAGA MPTMASIKLS
660 670 680 690 700
TLHPIVNHPH YEDADLRART KIVYSTYSRK SAKEVRDKLL ELHVNYYVLE
710 720 730 740 750
EAWCVVRTKP GCSMLEIWDV EDPSNAANPP LCSVLLEDAR PYFTTVFQNS

VYRVLKVN
Length:758
Mass (Da):87,374
Last modified:December 4, 2007 - v2
Checksum:i1A5538AF7001EB35
GO
Isoform 2 (identifier: Q6NUT2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-553: Missing.

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):23,745
Checksum:i821D455D8B83A80A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0W1F5H0W1_HUMAN
Probable C-mannosyltransferase DPY1...
DPY19L2
142Annotation score:
H0YF77H0YF77_HUMAN
Probable C-mannosyltransferase DPY1...
DPY19L2
149Annotation score:
F5H5T7F5H5T7_HUMAN
Probable C-mannosyltransferase DPY1...
DPY19L2
124Annotation score:
F5H1L7F5H1L7_HUMAN
Probable C-mannosyltransferase DPY1...
DPY19L2
47Annotation score:
F5H4G6F5H4G6_HUMAN
Probable C-mannosyltransferase DPY1...
DPY19L2
90Annotation score:

Sequence cautioni

The sequence AAI25216 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI25217 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti152L → P in AAH68442 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03733337M → V2 PublicationsCorresponds to variant dbSNP:rs10878075Ensembl.1
Natural variantiVAR_03733441A → V2 PublicationsCorresponds to variant dbSNP:rs10878074Ensembl.1
Natural variantiVAR_03733551S → A2 PublicationsCorresponds to variant dbSNP:rs10878073Ensembl.1
Natural variantiVAR_062214757V → I. Corresponds to variant dbSNP:rs12314553Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0561361 – 553Missing in isoform 2. 1 PublicationAdd BLAST553

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358792 mRNA Translation: AAQ89152.1
AK057511 mRNA Translation: BAB71515.1
AK303727 mRNA Translation: BAG64703.1
AC027667 Genomic DNA No translation available.
BC031225 mRNA Translation: AAH31225.1
BC068442 mRNA Translation: AAH68442.1
BC125215 mRNA Translation: AAI25216.2 Different initiation.
BC125216 mRNA Translation: AAI25217.2 Different initiation.
CCDSiCCDS31851.1 [Q6NUT2-1]
RefSeqiNP_776173.3, NM_173812.4 [Q6NUT2-1]
UniGeneiHs.533644

Genome annotation databases

EnsembliENST00000324472; ENSP00000315988; ENSG00000177990 [Q6NUT2-1]
GeneIDi283417
KEGGihsa:283417
UCSCiuc001srp.2 human [Q6NUT2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358792 mRNA Translation: AAQ89152.1
AK057511 mRNA Translation: BAB71515.1
AK303727 mRNA Translation: BAG64703.1
AC027667 Genomic DNA No translation available.
BC031225 mRNA Translation: AAH31225.1
BC068442 mRNA Translation: AAH68442.1
BC125215 mRNA Translation: AAI25216.2 Different initiation.
BC125216 mRNA Translation: AAI25217.2 Different initiation.
CCDSiCCDS31851.1 [Q6NUT2-1]
RefSeqiNP_776173.3, NM_173812.4 [Q6NUT2-1]
UniGeneiHs.533644

3D structure databases

ProteinModelPortaliQ6NUT2
SMRiQ6NUT2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129556, 1 interactor
STRINGi9606.ENSP00000315988

PTM databases

iPTMnetiQ6NUT2
PhosphoSitePlusiQ6NUT2

Polymorphism and mutation databases

BioMutaiDPY19L2
DMDMi162416266

Proteomic databases

EPDiQ6NUT2
MaxQBiQ6NUT2
PaxDbiQ6NUT2
PeptideAtlasiQ6NUT2
PRIDEiQ6NUT2
ProteomicsDBi66711

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324472; ENSP00000315988; ENSG00000177990 [Q6NUT2-1]
GeneIDi283417
KEGGihsa:283417
UCSCiuc001srp.2 human [Q6NUT2-1]

Organism-specific databases

CTDi283417
DisGeNETi283417
EuPathDBiHostDB:ENSG00000177990.11
GeneCardsiDPY19L2
H-InvDBiHIX0006594
HIX0006968
HGNCiHGNC:19414 DPY19L2
HPAiHPA071264
MalaCardsiDPY19L2
MIMi613893 gene
613958 phenotype
neXtProtiNX_Q6NUT2
OpenTargetsiENSG00000177990
Orphaneti171709 Male infertility due to globozoospermia
PharmGKBiPA142671949
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4587 Eukaryota
ENOG410XRWN LUCA
GeneTreeiENSGT00530000063023
HOGENOMiHOG000007991
HOVERGENiHBG061402
InParanoidiQ6NUT2
OMAiNSMYRVL
OrthoDBiEOG091G02PL
PhylomeDBiQ6NUT2
TreeFamiTF313376

Miscellaneous databases

GenomeRNAii283417
PROiPR:Q6NUT2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177990 Expressed in 135 organ(s), highest expression level in testis
CleanExiHS_DPY19L2
ExpressionAtlasiQ6NUT2 baseline and differential
GenevisibleiQ6NUT2 HS

Family and domain databases

InterProiView protein in InterPro
IPR018732 Dpy-19/Dpy-19-like
IPR030042 DPY19L2
PANTHERiPTHR31488 PTHR31488, 1 hit
PTHR31488:SF6 PTHR31488:SF6, 1 hit
PfamiView protein in Pfam
PF10034 Dpy19, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiD19L2_HUMAN
AccessioniPrimary (citable) accession number: Q6NUT2
Secondary accession number(s): A4FVC1
, B4E191, Q3ZCX2, Q6UWG8, Q96LZ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: September 12, 2018
This is version 108 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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