Human Gene TMED3 (uc002beu.3)
  Description: Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:79,603,491-79,615,189 Size: 11,699 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr15:79,603,592-79,614,556 Size: 10,965 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:79,603,491-79,615,189)mRNA (may differ from genome)Protein (217 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TMED3_HUMAN
DESCRIPTION: RecName: Full=Transmembrane emp24 domain-containing protein 3; AltName: Full=Membrane protein p24B; AltName: Full=p24 family protein gamma-4; Short=p24gamma4; AltName: Full=p26; Flags: Precursor;
FUNCTION: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network.
SUBUNIT: Monomer in endoplasmic reticulum, endoplasmic reticulum- Golgi intermediate compartment and cis-Golgi network. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED3; however, there are conflicting reports on the interaction. Interacts with GORASP1 and GORASP2 (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, COPI- coated vesicle membrane; Single-pass type I membrane protein (By similarity). Note=Probably cycles between compartments of the early secretatory pathway.
SIMILARITY: Belongs to the EMP24/GP25L family.
SIMILARITY: Contains 1 GOLD domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TMED3
CDC HuGE Published Literature: TMED3
Positive Disease Associations: Cholesterol , Respiratory Function Tests
Related Studies:
  1. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Respiratory Function Tests
    Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics. [PubMed 17903307]
    GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.05 RPKM in Minor Salivary Gland
Total median expression: 966.75 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.00101-0.366 Picture PostScript Text
3' UTR -253.20633-0.400 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
IPR009038 - GOLD
IPR015718 - P24-related

Pfam Domains:
PF01105 - emp24/gp25L/p24 family/GOLD

SCOP Domains:
101576 - Supernatant protein factor (SPF), C-terminal domain

ModBase Predicted Comparative 3D Structure on Q9Y3Q3
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0015031 protein transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030126 COPI vesicle coat
GO:0030133 transport vesicle
GO:0030663 COPI-coated vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032580 Golgi cisterna membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane


-  Descriptions from all associated GenBank mRNAs
  AK297710 - Homo sapiens cDNA FLJ58917 complete cds, highly similar to Transmembrane emp24 domain-containing protein 3 precursor.
LF208575 - JP 2014500723-A/16078: Polycomb-Associated Non-Coding RNAs.
BC111547 - Homo sapiens transmembrane emp24 protein transport domain containing 3, mRNA (cDNA clone MGC:133022 IMAGE:40005178), complete cds.
BC010853 - Homo sapiens transmembrane emp24 protein transport domain containing 3, mRNA (cDNA clone MGC:8938 IMAGE:3876465), complete cds.
AK222516 - Homo sapiens mRNA for chromosome 15 open reading frame 22 variant, clone: adKA03476.
BC022232 - Homo sapiens transmembrane emp24 protein transport domain containing 3, mRNA (cDNA clone MGC:21508 IMAGE:3885305), complete cds.
AK289434 - Homo sapiens cDNA FLJ75946 complete cds, highly similar to Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.
HM005671 - Homo sapiens clone HTL-T-48e testis tissue sperm-binding protein Li 48e mRNA, complete cds.
BC017495 - Homo sapiens transmembrane emp24 protein transport domain containing 3, mRNA (cDNA clone MGC:17995 IMAGE:3921858), complete cds.
AL109672 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 755868.
AY358974 - Homo sapiens clone DNA56052 P24B (UNQ535) mRNA, complete cds.
BC000027 - Homo sapiens transmembrane emp24 protein transport domain containing 3, mRNA (cDNA clone MGC:1302 IMAGE:3507308), complete cds.
AK304148 - Homo sapiens cDNA FLJ58873 complete cds, highly similar to Transmembrane emp24 domain-containing protein 3 precursor.
AK075529 - Homo sapiens cDNA PSEC0228 fis, clone HEMBA1006099, weakly similar to COP-COATED VESICLE MEMBRANE PROTEIN P24 PRECURSOR.
AJ132270 - Homo sapiens mRNA for integral type I protein p24B (p26).
JD470633 - Sequence 451657 from Patent EP1572962.
KJ893370 - Synthetic construct Homo sapiens clone ccsbBroadEn_02764 TMED3 gene, encodes complete protein.
CR457384 - Homo sapiens full open reading frame cDNA clone RZPDo834H0410D for gene P24B, integral type I protein; complete cds, incl. stopcodon.
AL109673 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 356973.
LF378046 - JP 2014500723-A/185549: Polycomb-Associated Non-Coding RNAs.
JD523959 - Sequence 504983 from Patent EP1572962.
JD210433 - Sequence 191457 from Patent EP1572962.
JD132030 - Sequence 113054 from Patent EP1572962.
JD132031 - Sequence 113055 from Patent EP1572962.
JD130860 - Sequence 111884 from Patent EP1572962.
LF378045 - JP 2014500723-A/185548: Polycomb-Associated Non-Coding RNAs.
JD466649 - Sequence 447673 from Patent EP1572962.
JD487858 - Sequence 468882 from Patent EP1572962.
JD225172 - Sequence 206196 from Patent EP1572962.
JD231652 - Sequence 212676 from Patent EP1572962.
JD457900 - Sequence 438924 from Patent EP1572962.
JD556746 - Sequence 537770 from Patent EP1572962.
JD261804 - Sequence 242828 from Patent EP1572962.
JD323840 - Sequence 304864 from Patent EP1572962.
JD498337 - Sequence 479361 from Patent EP1572962.
JD467583 - Sequence 448607 from Patent EP1572962.
JD428495 - Sequence 409519 from Patent EP1572962.
JD474960 - Sequence 455984 from Patent EP1572962.
JD277831 - Sequence 258855 from Patent EP1572962.
JD552177 - Sequence 533201 from Patent EP1572962.
JD159835 - Sequence 140859 from Patent EP1572962.
LF378044 - JP 2014500723-A/185547: Polycomb-Associated Non-Coding RNAs.
LF378043 - JP 2014500723-A/185546: Polycomb-Associated Non-Coding RNAs.
MA444152 - JP 2018138019-A/16078: Polycomb-Associated Non-Coding RNAs.
MA613623 - JP 2018138019-A/185549: Polycomb-Associated Non-Coding RNAs.
MA613622 - JP 2018138019-A/185548: Polycomb-Associated Non-Coding RNAs.
MA613621 - JP 2018138019-A/185547: Polycomb-Associated Non-Coding RNAs.
MA613620 - JP 2018138019-A/185546: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y3Q3 (Reactome details) participates in the following event(s):

R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-HSA-6811417 ARFGAP, cargo, vSNARES and p24 proteins bind COPI vesicles at Golgi
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6811418 ARFGAPs stimulate ARF GTPase activity at the Golgi membrane
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8K069, B4DN05, C15orf22, NM_007364, NP_031390, Q2T9F8, Q9Y3Q3, TMED3_HUMAN, UNQ5357/PRO1078
UCSC ID: uc002beu.3
RefSeq Accession: NM_007364
Protein: Q9Y3Q3 (aka TMED3_HUMAN)
CCDS: CCDS10310.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007364.2
exon count: 3CDS single in 3' UTR: no RNA size: 1435
ORF size: 654CDS single in intron: no Alignment % ID: 99.86
txCdsPredict score: 1508.00frame shift in genome: no % Coverage: 96.72
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.