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.
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.
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.
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.
SCOP Domains: 101576 - Supernatant protein factor (SPF), C-terminal domain
ModBase Predicted Comparative 3D Structure on Q9Y3Q3
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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.
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
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