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Protein

Probable C-mannosyltransferase DPY19L2

Gene

DPY19L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Glycosyltransferase, Transferase

Keywords - Biological processi

Differentiation, 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

HGNCiHGNC:19414. DPY19L2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei108 – 12821HelicalSequence analysisAdd
BLAST
Transmembranei154 – 17421HelicalSequence analysisAdd
BLAST
Transmembranei195 – 21521HelicalSequence analysisAdd
BLAST
Transmembranei243 – 26523HelicalSequence analysisAdd
BLAST
Transmembranei269 – 28618HelicalSequence analysisAdd
BLAST
Transmembranei297 – 31721HelicalSequence analysisAdd
BLAST
Transmembranei344 – 36421HelicalSequence analysisAdd
BLAST
Transmembranei372 – 39221HelicalSequence analysisAdd
BLAST
Transmembranei423 – 44321HelicalSequence analysisAdd
BLAST
Transmembranei489 – 50921HelicalSequence analysisAdd
BLAST
Transmembranei534 – 55421HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • nuclear inner membrane Source: GO_Central
  • nucleus Source: UniProtKB
Complete GO annotation...

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

MalaCardsiDPY19L2.
MIMi613958. phenotype.
Orphaneti171709. Male infertility due to globozoospermia.
PharmGKBiPA142671949.

Polymorphism and mutation databases

BioMutaiDPY19L2.
DMDMi162416266.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 758758Probable C-mannosyltransferase DPY19L2PRO_0000311879Add
BLAST

Proteomic databases

EPDiQ6NUT2.
MaxQBiQ6NUT2.
PaxDbiQ6NUT2.
PeptideAtlasiQ6NUT2.
PRIDEiQ6NUT2.

PTM databases

iPTMnetiQ6NUT2.
PhosphoSiteiQ6NUT2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000177990.
CleanExiHS_DPY19L2.
ExpressionAtlasiQ6NUT2. baseline and differential.
GenevisibleiQ6NUT2. HS.

Interactioni

Protein-protein interaction databases

BioGridi129556. 1 interaction.
STRINGi9606.ENSP00000315988.

Structurei

3D structure databases

ProteinModelPortaliQ6NUT2.
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.
OMAiLQMCILT.
OrthoDBiEOG091G02PL.
PhylomeDBiQ6NUT2.
TreeFamiTF313376.

Family and domain databases

InterProiIPR018732. Dpy-19/Dpy-19-like.
[Graphical view]
PfamiPF10034. Dpy19. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti152 – 1521L → P in AAH68442 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371M → V.2 Publications
Corresponds to variant rs10878075 [ dbSNP | Ensembl ].
VAR_037333
Natural varianti41 – 411A → V.2 Publications
Corresponds to variant rs10878074 [ dbSNP | Ensembl ].
VAR_037334
Natural varianti51 – 511S → A.2 Publications
Corresponds to variant rs10878073 [ dbSNP | Ensembl ].
VAR_037335
Natural varianti757 – 7571V → I.
Corresponds to variant rs12314553 [ dbSNP | Ensembl ].
VAR_062214

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 553553Missing in isoform 2. 1 PublicationVSP_056136Add
BLAST

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129556. 1 interaction.
STRINGi9606.ENSP00000315988.

PTM databases

iPTMnetiQ6NUT2.
PhosphoSiteiQ6NUT2.

Polymorphism and mutation databases

BioMutaiDPY19L2.
DMDMi162416266.

Proteomic databases

EPDiQ6NUT2.
MaxQBiQ6NUT2.
PaxDbiQ6NUT2.
PeptideAtlasiQ6NUT2.
PRIDEiQ6NUT2.

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.
GeneCardsiDPY19L2.
H-InvDBHIX0006594.
HIX0006968.
HGNCiHGNC:19414. DPY19L2.
MalaCardsiDPY19L2.
MIMi613893. gene.
613958. phenotype.
neXtProtiNX_Q6NUT2.
Orphaneti171709. Male infertility due to globozoospermia.
PharmGKBiPA142671949.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4587. Eukaryota.
ENOG410XRWN. LUCA.
GeneTreeiENSGT00530000063023.
HOGENOMiHOG000007991.
HOVERGENiHBG061402.
InParanoidiQ6NUT2.
OMAiLQMCILT.
OrthoDBiEOG091G02PL.
PhylomeDBiQ6NUT2.
TreeFamiTF313376.

Miscellaneous databases

GenomeRNAii283417.
PROiQ6NUT2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177990.
CleanExiHS_DPY19L2.
ExpressionAtlasiQ6NUT2. baseline and differential.
GenevisibleiQ6NUT2. HS.

Family and domain databases

InterProiIPR018732. Dpy-19/Dpy-19-like.
[Graphical view]
PfamiPF10034. Dpy19. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiD19L2_HUMAN
AccessioniPrimary (citable) accession number: Q6NUT2
Secondary accession number(s): A4FVC1
, B4E191, Q3ZCX2, Q6UWG8, Q96LZ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: September 7, 2016
This is version 98 of the entry and version 2 of the sequence. [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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.