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Q2PZI1

- D19L1_HUMAN

UniProt

Q2PZI1 - D19L1_HUMAN

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Protein

Probable C-mannosyltransferase DPY19L1

Gene

DPY19L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.By similarity

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
Probable C-mannosyltransferase DPY19L1 (EC:2.4.1.-)
Alternative name(s):
Dpy-19-like protein 1
Protein dpy-19 homolog 1
Gene namesi
Name:DPY19L1
Synonyms:GA0500, KIAA0877
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22205. DPY19L1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei66 – 8823HelicalSequence AnalysisAdd
BLAST
Transmembranei156 – 17621HelicalSequence AnalysisAdd
BLAST
Transmembranei186 – 20823HelicalSequence AnalysisAdd
BLAST
Transmembranei236 – 25419HelicalSequence AnalysisAdd
BLAST
Transmembranei260 – 27920HelicalSequence AnalysisAdd
BLAST
Transmembranei286 – 30318HelicalSequence AnalysisAdd
BLAST
Transmembranei309 – 32517HelicalSequence AnalysisAdd
BLAST
Transmembranei334 – 35421HelicalSequence AnalysisAdd
BLAST
Transmembranei414 – 43421HelicalSequence AnalysisAdd
BLAST
Transmembranei449 – 46921HelicalSequence AnalysisAdd
BLAST
Transmembranei491 – 51121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671946.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 675675Probable C-mannosyltransferase DPY19L1PRO_0000311877Add
BLAST

Proteomic databases

MaxQBiQ2PZI1.
PaxDbiQ2PZI1.
PRIDEiQ2PZI1.

PTM databases

PhosphoSiteiQ2PZI1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ2PZI1.
CleanExiHS_DPY19L1.
ExpressionAtlasiQ2PZI1. baseline and differential.
GenevestigatoriQ2PZI1.

Organism-specific databases

HPAiHPA059139.

Interactioni

Protein-protein interaction databases

BioGridi116920. 6 interactions.
IntActiQ2PZI1. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ2PZI1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dpy-19 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG236656.
GeneTreeiENSGT00530000063023.
HOGENOMiHOG000007991.
HOVERGENiHBG061402.
InParanoidiQ2PZI1.
OMAiCTRRTRP.
OrthoDBiEOG7N37BZ.
PhylomeDBiQ2PZI1.
TreeFamiTF313376.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q2PZI1-1) [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
MEGRPPPEGR PPPRPRTGRA PRGRRRAVFA AVLHWSHITH LFENDRHFSH
60 70 80 90 100
LSTLEREMAF RTEMGLYYSY FKTIVEAPSF LNGVWMIMND KLTEYPLVIN
110 120 130 140 150
TLKRFNLYPE VILASWYRIY TKIMDLIGIQ TKICWTVTRG EGLSPIESCE
160 170 180 190 200
GLGDPACFYV AVIFILNGLM MALFFIYGTY LSGSRLGGLV TVLCFFFNHG
210 220 230 240 250
ECTRVMWTPP LRESFSYPFL VLQMLLVTHI LRATKLYRGS LIALCISNVF
260 270 280 290 300
FMLPWQFAQF VLLTQIASLF AVYVVGYIDI CKLRKIIYIH MISLALCFVL
310 320 330 340 350
MFGNSMLLTS YYASSLVIIW GILAMKPHFL KINVSELSLW VIQGCFWLFG
360 370 380 390 400
TVILKYLTSK IFGIADDAHI GNLLTSKFFS YKDFDTLLYT CAAEFDFMEK
410 420 430 440 450
ETPLRYTKTL LLPVVLVVFV AIVRKIISDM WGVLAKQQTH VRKHQFDHGE
460 470 480 490 500
LVYHALQLLA YTALGILIMR LKLFLTPHMC VMASLICSRQ LFGWLFCKVH
510 520 530 540 550
PGAIVFAILA AMSIQGSANL QTQWNIVGEF SNLPQEELIE WIKYSTKPDA
560 570 580 590 600
VFAGAMPTMA SVKLSALRPI VNHPHYEDAG LRARTKIVYS MYSRKAAEEV
610 620 630 640 650
KRELIKLKVN YYILEESWCV RRSKPGCSMP EIWDVEDPAN AGKTPLCNLL
660 670
VKDSKPHFTT VFQNSVYKVL EVVKE
Length:675
Mass (Da):77,319
Last modified:January 24, 2006 - v1
Checksum:i89B82078AC235F3E
GO
Isoform 2 (identifier: Q2PZI1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-590: Missing.

Show »
Length:85
Mass (Da):9,877
Checksum:i64046E7BE90747A3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti502 – 5021G → V.
Corresponds to variant rs1637696 [ dbSNP | Ensembl ].
VAR_037332

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 590590Missing in isoform 2. 1 PublicationVSP_029628Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ287932 mRNA. Translation: ABB89208.1.
BC029591 mRNA. Translation: AAH29591.1.
AB020684 mRNA. Translation: BAA74900.1.
CCDSiCCDS43567.1. [Q2PZI1-1]
RefSeqiNP_056098.1. NM_015283.1. [Q2PZI1-1]
UniGeneiHs.408623.

Genome annotation databases

EnsembliENST00000310974; ENSP00000308695; ENSG00000173852. [Q2PZI1-1]
ENST00000612226; ENSP00000478865; ENSG00000173852. [Q2PZI1-2]
GeneIDi23333.
KEGGihsa:23333.
UCSCiuc003tem.4. human. [Q2PZI1-1]

Polymorphism databases

DMDMi121941680.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ287932 mRNA. Translation: ABB89208.1 .
BC029591 mRNA. Translation: AAH29591.1 .
AB020684 mRNA. Translation: BAA74900.1 .
CCDSi CCDS43567.1. [Q2PZI1-1 ]
RefSeqi NP_056098.1. NM_015283.1. [Q2PZI1-1 ]
UniGenei Hs.408623.

3D structure databases

ProteinModelPortali Q2PZI1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116920. 6 interactions.
IntActi Q2PZI1. 1 interaction.

PTM databases

PhosphoSitei Q2PZI1.

Polymorphism databases

DMDMi 121941680.

Proteomic databases

MaxQBi Q2PZI1.
PaxDbi Q2PZI1.
PRIDEi Q2PZI1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310974 ; ENSP00000308695 ; ENSG00000173852 . [Q2PZI1-1 ]
ENST00000612226 ; ENSP00000478865 ; ENSG00000173852 . [Q2PZI1-2 ]
GeneIDi 23333.
KEGGi hsa:23333.
UCSCi uc003tem.4. human. [Q2PZI1-1 ]

Organism-specific databases

CTDi 23333.
GeneCardsi GC07M034935.
H-InvDB HIX0006593.
HIX0058364.
HGNCi HGNC:22205. DPY19L1.
HPAi HPA059139.
MIMi 613892. gene.
neXtProti NX_Q2PZI1.
PharmGKBi PA142671946.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236656.
GeneTreei ENSGT00530000063023.
HOGENOMi HOG000007991.
HOVERGENi HBG061402.
InParanoidi Q2PZI1.
OMAi CTRRTRP.
OrthoDBi EOG7N37BZ.
PhylomeDBi Q2PZI1.
TreeFami TF313376.

Miscellaneous databases

GenomeRNAii 23333.
NextBioi 45263.
PROi Q2PZI1.
SOURCEi Search...

Gene expression databases

Bgeei Q2PZI1.
CleanExi HS_DPY19L1.
ExpressionAtlasi Q2PZI1. baseline and differential.
Genevestigatori Q2PZI1.

Family and domain databases

InterProi IPR018732. Dpy-19.
[Graphical view ]
Pfami PF10034. Dpy19. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The Centre for Applied Genomics chromosome 7 annotation project."
    Carson A.R., Cheung J., Scherer S.W.
    Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-675 (ISOFORM 1).
    Tissue: Brain.
  4. "Duplication and relocation of the functional DPY19L2 gene within low copy repeats."
    Carson A.R., Cheung J., Scherer S.W.
    BMC Genomics 7:45-45(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE DUPLICATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiD19L1_HUMAN
AccessioniPrimary (citable) accession number: Q2PZI1
Secondary accession number(s): O94954, Q4G151
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: January 24, 2006
Last modified: October 29, 2014
This is version 65 of the entry and version 1 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 DPY19L1 has a related pseudogene DPY19L1P1.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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

External Data

Dasty 3