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Q2PZI1 (D19L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 61. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable C-mannosyltransferase DPY19L1

EC=2.4.1.-
Alternative name(s):
Dpy-19-like protein 1
Protein dpy-19 homolog 1
Gene names
Name:DPY19L1
Synonyms:GA0500, KIAA0877
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length675 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed. Ref.4

Miscellaneous

It has been suggested that DPY19L1 has a related pseudogene DPY19L1P1.

Sequence similarities

Belongs to the dpy-19 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiontransferase activity, transferring glycosyl groups

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q2PZI1-1)

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.
Isoform 2 (identifier: Q2PZI1-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 675675Probable C-mannosyltransferase DPY19L1
PRO_0000311877

Regions

Transmembrane66 – 8823Helical; Potential
Transmembrane156 – 17621Helical; Potential
Transmembrane186 – 20823Helical; Potential
Transmembrane236 – 25419Helical; Potential
Transmembrane260 – 27920Helical; Potential
Transmembrane286 – 30318Helical; Potential
Transmembrane309 – 32517Helical; Potential
Transmembrane334 – 35421Helical; Potential
Transmembrane414 – 43421Helical; Potential
Transmembrane449 – 46921Helical; Potential
Transmembrane491 – 51121Helical; Potential

Natural variations

Alternative sequence1 – 590590Missing in isoform 2.
VSP_029628
Natural variant5021G → V.
Corresponds to variant rs1637696 [ dbSNP | Ensembl ].
VAR_037332

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 24, 2006. Version 1.
Checksum: 89B82078AC235F3E

FASTA67577,319
        10         20         30         40         50         60 
MEGRPPPEGR PPPRPRTGRA PRGRRRAVFA AVLHWSHITH LFENDRHFSH LSTLEREMAF 

        70         80         90        100        110        120 
RTEMGLYYSY FKTIVEAPSF LNGVWMIMND KLTEYPLVIN TLKRFNLYPE VILASWYRIY 

       130        140        150        160        170        180 
TKIMDLIGIQ TKICWTVTRG EGLSPIESCE GLGDPACFYV AVIFILNGLM MALFFIYGTY 

       190        200        210        220        230        240 
LSGSRLGGLV TVLCFFFNHG ECTRVMWTPP LRESFSYPFL VLQMLLVTHI LRATKLYRGS 

       250        260        270        280        290        300 
LIALCISNVF FMLPWQFAQF VLLTQIASLF AVYVVGYIDI CKLRKIIYIH MISLALCFVL 

       310        320        330        340        350        360 
MFGNSMLLTS YYASSLVIIW GILAMKPHFL KINVSELSLW VIQGCFWLFG TVILKYLTSK 

       370        380        390        400        410        420 
IFGIADDAHI GNLLTSKFFS YKDFDTLLYT CAAEFDFMEK ETPLRYTKTL LLPVVLVVFV 

       430        440        450        460        470        480 
AIVRKIISDM WGVLAKQQTH VRKHQFDHGE LVYHALQLLA YTALGILIMR LKLFLTPHMC 

       490        500        510        520        530        540 
VMASLICSRQ LFGWLFCKVH PGAIVFAILA AMSIQGSANL QTQWNIVGEF SNLPQEELIE 

       550        560        570        580        590        600 
WIKYSTKPDA VFAGAMPTMA SVKLSALRPI VNHPHYEDAG LRARTKIVYS MYSRKAAEEV 

       610        620        630        640        650        660 
KRELIKLKVN YYILEESWCV RRSKPGCSMP EIWDVEDPAN AGKTPLCNLL VKDSKPHFTT 

       670 
VFQNSVYKVL EVVKE 

« Hide

Isoform 2 [UniParc].

Checksum: 64046E7BE90747A3
Show »

FASTA859,877

References

« Hide 'large scale' references
[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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ287932 mRNA. Translation: ABB89208.1.
BC029591 mRNA. Translation: AAH29591.1.
AB020684 mRNA. Translation: BAA74900.1.
RefSeqNP_056098.1. NM_015283.1.
UniGeneHs.408623.

3D structure databases

ProteinModelPortalQ2PZI1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116920. 3 interactions.
IntActQ2PZI1. 1 interaction.

PTM databases

PhosphoSiteQ2PZI1.

Polymorphism databases

DMDM121941680.

Proteomic databases

PaxDbQ2PZI1.
PRIDEQ2PZI1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310974; ENSP00000308695; ENSG00000173852. [Q2PZI1-1]
GeneID23333.
KEGGhsa:23333.
UCSCuc003tem.4. human. [Q2PZI1-1]

Organism-specific databases

CTD23333.
GeneCardsGC07M034935.
H-InvDBHIX0006593.
HIX0058364.
HGNCHGNC:22205. DPY19L1.
HPAHPA059139.
MIM613892. gene.
neXtProtNX_Q2PZI1.
PharmGKBPA142671946.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236656.
HOGENOMHOG000007991.
HOVERGENHBG061402.
InParanoidQ2PZI1.
OMACTRRTRP.
OrthoDBEOG7N37BZ.
PhylomeDBQ2PZI1.
TreeFamTF313376.

Gene expression databases

ArrayExpressQ2PZI1.
BgeeQ2PZI1.
CleanExHS_DPY19L1.
GenevestigatorQ2PZI1.

Family and domain databases

InterProIPR018732. Dpy-19.
[Graphical view]
PfamPF10034. Dpy19. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23333.
NextBio45263.
PROQ2PZI1.
SOURCESearch...

Entry information

Entry nameD19L1_HUMAN
AccessionPrimary (citable) accession number: Q2PZI1
Secondary accession number(s): O94954, Q4G151
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: January 24, 2006
Last modified: April 16, 2014
This is version 61 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM