Human Gene POGLUT2 (uc001vpq.4)
  Description: Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (POGLUT2), mRNA.
RefSeq Summary (NM_024089): This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr13:103,436,631-103,451,404 Size: 14,774 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr13:103,436,845-103,451,020 Size: 14,176 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:103,436,631-103,451,404)mRNA (may differ from genome)Protein (502 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KDEL1_HUMAN
DESCRIPTION: RecName: Full=KDEL motif-containing protein 1; AltName: Full=Endoplasmic reticulum resident protein 58; Short=ER protein 58; Short=ERp58; Flags: Precursor;
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen (By similarity).
PTM: N-glycosylated (By similarity).
SIMILARITY: Belongs to the KDELC family.
SIMILARITY: Contains 1 filamin repeat.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.76 RPKM in Cells - Cultured fibroblasts
Total median expression: 109.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -169.80384-0.442 Picture PostScript Text
3' UTR -39.80214-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001298 - Filamin
IPR017868 - Filamin/ABP280_repeat-like
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR006598 - LipoPS_modifying

Pfam Domains:
PF00630 - Filamin/ABP280 repeat
PF05686 - Glycosyl transferase family 90

SCOP Domains:
81296 - E set domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DI7 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q6UW63
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046527 glucosyltransferase activity

Biological Process:
GO:0006664 glycolipid metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AK222567 - Homo sapiens mRNA for BK158_1 (OTTHUMP00000040718) variant, clone: CAE03705.
AY358959 - Homo sapiens clone DNA84917 BK158_1 (UNQ1910) mRNA, complete cds.
BC001297 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1, mRNA (cDNA clone MGC:5302 IMAGE:3456869), complete cds.
AK074974 - Homo sapiens cDNA FLJ90493 fis, clone NT2RP3003559.
BC051860 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1, mRNA (cDNA clone IMAGE:6172894), with apparent retained intron.
AK225103 - Homo sapiens mRNA for KDEL (Lys-Asp-Glu-Leu) containing 1 variant, clone: CAS08941.
DQ891207 - Synthetic construct clone IMAGE:100003837; FLH170160.01X; RZPDo839C0598D KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1) gene, encodes complete protein.
DQ894390 - Synthetic construct Homo sapiens clone IMAGE:100008850; FLH170156.01L; RZPDo839C0597D KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1) gene, encodes complete protein.
KJ899523 - Synthetic construct Homo sapiens clone ccsbBroadEn_08917 KDELC1 gene, encodes complete protein.
AK309238 - Homo sapiens cDNA, FLJ99279.
JD520803 - Sequence 501827 from Patent EP1572962.
JD152401 - Sequence 133425 from Patent EP1572962.
JD479060 - Sequence 460084 from Patent EP1572962.
JD170428 - Sequence 151452 from Patent EP1572962.
JD409149 - Sequence 390173 from Patent EP1572962.
JD523515 - Sequence 504539 from Patent EP1572962.
JD375307 - Sequence 356331 from Patent EP1572962.
JD459092 - Sequence 440116 from Patent EP1572962.
JD124973 - Sequence 105997 from Patent EP1572962.
JD214923 - Sequence 195947 from Patent EP1572962.
JD085320 - Sequence 66344 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: EP58, KDEL1_HUMAN, KDELC1, NM_024089, NP_076994, Q53HL3, Q6UW63, Q9BVD2, UNQ1910/PRO4357
UCSC ID: uc001vpq.4
RefSeq Accession: NM_024089
Protein: Q6UW63 (aka KDEL1_HUMAN)
CCDS: CCDS9504.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024089.2
exon count: 10CDS single in 3' UTR: no RNA size: 2129
ORF size: 1509CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2990.50frame shift in genome: no % Coverage: 98.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.