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POGLUT2 protein O-glucosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 79070, updated on 13-Mar-2020

Summary

Official Symbol
POGLUT2provided by HGNC
Official Full Name
protein O-glucosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:19350
See related
Ensembl:ENSG00000134901 MIM:611613
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EP58; ERp58; KDEL1; KDELC1
Summary
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]
Expression
Ubiquitous expression in placenta (RPKM 5.5), endometrium (RPKM 5.0) and 24 other tissues See more
Orthologs

Genomic context

See POGLUT2 in Genome Data Viewer
Location:
13q33.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (102784281..102799009, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103436631..103451404, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 168 Neighboring gene uncharacterized LOC105370337 Neighboring gene testis expressed 30 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNY5 pseudogene 8 Neighboring gene ERCC excision repair 5, endonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
UDP-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein O-linked glycosylation via serine IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein O-glucosyltransferase 2
Names
ER protein 58
KDEL (Lys-Asp-Glu-Leu) containing 1
KDEL motif containing 1
KDEL motif-containing protein 1
endoplasmic reticulum resident protein 58
protein O-xylosyltransferase POGLUT2
NP_001305661.1
NP_076994.2
XP_005254132.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318732.2NP_001305661.1  protein O-glucosyltransferase 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the central region of the transcript and is inferred to initiate translation at an alternate start codon, compared to variant 1. Use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The inferred protein (isoform 2) has a distinct N-terminus, is shorter, and lacks a predicted signal peptide, compared to isoform 1.
    Source sequence(s)
    BC001297, BC051860, DB204842
    UniProtKB/Swiss-Prot
    Q6UW63
    Conserved Domains (1) summary
    cl23835
    Location:2265
    Glyco_transf_90; Glycosyl transferase family 90
  2. NM_024089.3NP_076994.2  protein O-glucosyltransferase 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_076994.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK225103, BC001297
    Consensus CDS
    CCDS9504.1
    UniProtKB/Swiss-Prot
    Q6UW63
    Related
    ENSP00000365172.4, ENST00000376004.5
    Conserved Domains (3) summary
    smart00557
    Location:29129
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00630
    Location:28127
    Filamin; Filamin/ABP280 repeat
    pfam05686
    Location:151484
    Glyco_transf_90; Glycosyl transferase family 90

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    102784281..102799009 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254075.3XP_005254132.1  protein O-glucosyltransferase 2 isoform X1

    Conserved Domains (3) summary
    smart00557
    Location:29129
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00630
    Location:28127
    Filamin; Filamin/ABP280 repeat
    cl23835
    Location:151461
    Glyco_transf_90; Glycosyl transferase family 90
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