GOLGA2

Last updated
GOLGA2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GOLGA2 , GM130, golgin A2
External IDs OMIM: 602580 MGI: 2139395 HomoloGene: 3300 GeneCards: GOLGA2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004486
NM_001366244
NM_001366246

RefSeq (protein)

NP_004477
NP_001353173
NP_001353175

Location (UCSC) Chr 9: 128.26 – 128.28 Mb Chr 2: 32.18 – 32.2 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Golgin subfamily A member 2 is a protein that in humans is encoded by the GOLGA2 gene. [5]

Contents

Function

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [6]

A patient with a neuromuscular disorder has been identified that is homozygous for a deletion mutation in this gene, and morpholino knockdown in zebrafish has shown similar phenotypes. [7]

Interactions

GOLGA2 has been shown to interact with:

Related Research Articles

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General vesicular transport factor p115 is a protein that in humans is encoded by the USO1 gene.

RAB1A Protein-coding gene in the species Homo sapiens

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GRASP65 Protein-coding gene in the species Homo sapiens

Golgi reassembly-stacking protein of 65 kDa (GRASP65) also known as Golgi reassembly-stacking protein 1 (GORASP1) is a protein that in humans is encoded by the GORASP1 gene.

STX5 Protein-coding gene in the species Homo sapiens

Syntaxin-5 is a protein that in humans is encoded by the STX5 gene.

RAB1B Protein-coding gene in the species Homo sapiens

Ras-related protein Rab-1B is a protein that in humans is encoded by the RAB1B gene.

KIF20A

Kinesin-like protein KIF20A is a protein that in humans is encoded by the KIF20A gene.

YKT6 Protein-coding gene in the species Homo sapiens

Synaptobrevin homolog YKT6 is a protein that in humans is encoded by the YKT6 gene.

GOLGA3

Golgin subfamily A member 3 is a protein that in humans is encoded by the GOLGA3 gene.

GOLGA4

Golgin subfamily A member 4 is a protein that in humans is encoded by the GOLGA4 gene.

GOSR1 Protein-coding gene in the species Homo sapiens

Golgi SNAP receptor complex member 1 is a protein that in humans is encoded by the GOSR1 gene.

RAB2A Protein-coding gene in the species Homo sapiens

Ras-related protein Rab-2A is a protein that in humans is encoded by the RAB2A gene.

GRASP55 Protein-coding gene in the species Homo sapiens

Golgi reassembly-stacking protein of 55 kDa (GRASP55) also known as golgi reassembly-stacking protein 2 (GORASP2) is a protein that in humans is encoded by the GORASP2 gene. It was identified by its homology with GRASP65 and the protein's amino acid sequence was determined by analysis of a molecular clone of its complementary DNA. The first (N-terminus) 212 amino acid residues of GRASP55 are highly homologous to those of GRASP65, but the remainder of the 454 amino acid residues are highly diverged from GRASP65. The conserved region is known as the GRASP domain, and it is conserved among GRASPs of a wide variety of eukaryotes, but not plants. The C-terminus portion of the molecule is called the SPR domain. GRASP55 is more closely related to homologues in other species, suggesting that GRASP55 is ancestral to GRASP65. GRASP55 is found associated with the medial and trans cisternae of the Golgi apparatus.

RABEP1 Protein-coding gene in the species Homo sapiens

Rab GTPase-binding effector protein 1 is an enzyme that in humans is encoded by the RABEP1 gene. It belongs to rabaptin protein family.

GOLGA5 Protein-coding gene in the species Homo sapiens

Golgin subfamily A member 5 is a protein that in humans is encoded by the GOLGA5 gene.

BLZF1 Protein-coding gene in the species Homo sapiens

Golgin-45 is a protein that in humans is encoded by the BLZF1 gene.

RAB11B

Ras-related protein Rab-11B is a protein that in humans is encoded by the RAB11B gene. Rab11b is reported as most abundantly expressed in brain, heart and testes.

GOSR2 Protein-coding gene in the species Homo sapiens

Golgi SNAP receptor complex member 2 is a protein that in humans is encoded by the GOSR2 gene.

GOLGA1 Protein-coding gene in the species Homo sapiens

Golgin subfamily A member 1 is a protein that in humans is encoded by the GOLGA1 gene.

Giantin Protein-coding gene in the species Homo sapiens

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.

Golgi matrix

The Golgi matrix is a collection of proteins involved in the structure and function of the Golgi apparatus. The matrix was first isolated in 1994 as an amorphous collection of 12 proteins that remained associated together in the presence of detergent and 150 mM NaCl. Treatment with a protease enzyme removed the matrix, which confirmed the importance of proteins for the matrix structure. Modern freeze etch electron microscopy (EM) clearly shows a mesh connecting Golgi cisternae and associated vesicles. Further support for the existence of a matrix comes from EM images showing that ribosomes are excluded from regions between and near Golgi cisternae.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000167110 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002546 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Fritzler MJ, Hamel JC, Ochs RL, Chan EK (Jul 1993). "Molecular characterization of two human autoantigens: unique cDNAs encoding 95- and 160-kD proteins of a putative family in the Golgi complex". The Journal of Experimental Medicine. 178 (1): 49–62. doi:10.1084/jem.178.1.49. PMC   2191081 . PMID   8315394.
  6. "Entrez Gene: GOLGA2 golgi autoantigen, golgin subfamily a, 2".
  7. Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS (2016). "GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder". Human Genetics. 135 (2): 245–51. doi:10.1007/s00439-015-1632-8. PMC   4975006 . PMID   26742501.
  8. 1 2 3 4 Pfeffer SR (Dec 2001). "Constructing a Golgi complex". The Journal of Cell Biology. 155 (6): 873–5. doi:10.1083/jcb.200109095. PMC   2150916 . PMID   11739400.
  9. 1 2 Shorter J, Watson R, Giannakou ME, Clarke M, Warren G, Barr FA (Sep 1999). "GRASP55, a second mammalian GRASP protein involved in the stacking of Golgi cisternae in a cell-free system". The EMBO Journal. 18 (18): 4949–60. doi:10.1093/emboj/18.18.4949. PMC   1171566 . PMID   10487747.
  10. 1 2 Barr FA, Preisinger C, Kopajtich R, Körner R (Dec 2001). "Golgi matrix proteins interact with p24 cargo receptors and aid their efficient retention in the Golgi apparatus". The Journal of Cell Biology. 155 (6): 885–91. doi:10.1083/jcb.200108102. PMC   2150891 . PMID   11739402.
  11. Marra P, Maffucci T, Daniele T, Tullio GD, Ikehara Y, Chan EK, Luini A, Beznoussenko G, Mironov A, De Matteis MA (Dec 2001). "The GM130 and GRASP65 Golgi proteins cycle through and define a subdomain of the intermediate compartment". Nature Cell Biology. 3 (12): 1101–13. doi:10.1038/ncb1201-1101. PMID   11781572. S2CID   25743225.
  12. Weide T, Teuber J, Bayer M, Barnekow A (Jun 2003). "MICAL-1 isoforms, novel rab1 interacting proteins". Biochemical and Biophysical Research Communications. 306 (1): 79–86. doi:10.1016/s0006-291x(03)00918-5. PMID   12788069.
  13. Valsdottir R, Hashimoto H, Ashman K, Koda T, Storrie B, Nilsson T (Nov 2001). "Identification of rabaptin-5, rabex-5, and GM130 as putative effectors of rab33b, a regulator of retrograde traffic between the Golgi apparatus and ER". FEBS Letters. 508 (2): 201–9. doi:10.1016/s0014-5793(01)02993-3. PMID   11718716. S2CID   21545088.
  14. Weide T, Bayer M, Köster M, Siebrasse JP, Peters R, Barnekow A (Apr 2001). "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b". EMBO Reports. 2 (4): 336–41. doi:10.1093/embo-reports/kve065. PMC   1083862 . PMID   11306556.
  15. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
  16. Joachim J, Jefferies HB, Razi M, Frith D, Snijders AP, Chakravarty P, Judith D, Tooze SA (2015). "Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130". Molecular Cell. 60 (6): 899–913. doi:10.1016/j.molcel.2015.11.018. PMC   4691241 . PMID   26687599.

Further reading