Transmembrane emp24 domain-containing protein 10 is a protein that in humans is encoded by the TMED10 gene. [4] [5] [6]
This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [6]
P24 protein family is a group of transmembrane proteins that are major components of COPI and COPII-coated vesicles. The family is also known as EMP24/GP25L/p24 family and TMP21-like proteins. The latter naming was after transmembrane emp24 domain-containing protein 10 that was found in the human brain. It was claimed to block the beta-amyloid peptide, which is implicated in the pathogenesis of Alzheimer's disease.
ADP-ribosylation factor 1 is a protein that in humans is encoded by the ARF1 gene.
ADP-ribosylation factor-binding protein GGA1 is a protein that in humans is encoded by the GGA1 gene.
Coatomer subunit beta is a protein that in humans is encoded by the COPB1 gene.
Cux1 is a homeodomain protein that in humans is encoded by the CUX1 gene.
Golgi-associated PDZ and coiled-coil motif-containing protein is a protein that in humans is encoded by the GOPC gene.
Coatomer subunit alpha is a protein that in humans is encoded by the COPA gene.
Chimerin 2 (beta-chimaerin) is a protein that in humans is encoded by the CHN2 gene.
Protein transport protein Sec61 subunit beta is a protein that in humans is encoded by the SEC61B gene.
Coatomer subunit gamma is a protein that in humans is encoded by the COPG gene. It is one of seven proteins in the COPI coatomer complex that coats vesicles as they bud from the Golgi complex.
Golgin subfamily A member 3 is a protein that in humans is encoded by the GOLGA3 gene.
Kinesin-associated protein 3 (KAP3) is a protein that in humans is encoded by the KIFAP3 gene. It is a non-motor, accessory subunit which co-oligomerizes with the motor subunits KIF3A and KIF3B or KIF3C, to form heterotrimeric kinesin-2 motor proteins. Kinesin-2 KAP subunits were initially characterized in echinoderms and mice.
Conserved oligomeric Golgi complex subunit 7 is a protein that in humans is encoded by the COG7 gene.
Golgin subfamily A member 5 is a protein that in humans is encoded by the GOLGA5 gene.
ADP-ribosylation factor-related protein 1 is a protein that in humans is encoded by the ARFRP1 gene.
Rh family, B glycoprotein, also known as RHBG, is an ammonia transporter protein which in humans is encoded by the RHBG gene.
Signal peptide peptidase-like 2A, also known as SPPL2A, is a human gene.
Transmembrane emp24 domain-containing protein 2 is a protein that in humans is encoded by the TMED2 gene.
Protein LMBR1L is a protein that in humans is encoded by the LMBR1L gene.
Giantin or Golgin subfamily B member 1 is a protein that in humans is encoded by the GOLGB1 gene. Giantin is located at the cis-medial rims of the Golgi apparatus and is part of the Golgi matrix that is responsible for membrane trafficking in secretory pathway of proteins. This function is key for proper localisation of proteins at the plasma membrane and outside the cell which is important for cell function that is dependent on for example receptors and the extracellular matrix function. Recent animal model knockout studies of GOLGB1 in mice, rat, and zebrafish have shown that phenotypes are different between species ranging from mild to severe craniofacial defects in the rodent models to just minor size defects in zebrafish. However, in adult zebrafish a tumoral calcinosis-like phenotype was observed, and in humans such phenotype has been linked to defective glycosyltransferase function.