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torsdag 2 juli 2020

RAB perheen, Ras onkogeenin kaltaisen perheen prenylaatiosta

1)    CHM, (Xq21.2) , Rab proteins geranylgeranyltransferase component A1, (REP-1)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHM&keywords=Rab,prenylation
Aliases for CHM Gene
CHM Rab Escort Protein 2 3 5
Rab Proteins Geranylgeranyltransferase Component A 1 3 4
Choroideremia (Rab Escort Protein 1) 2 3
CHM, Rab Escort Protein 1 2 3
Rab Escort Protein 1 2 4
REP-1 3 4
TCD 3 4
Choroideremia Protein 4
TCD Protein 4
HSD-32 3
DXS540 3
GGTA 3
REP1 4


Entrez Gene Summary for CHM Gene
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
GeneCards Summary for CHM Gene
CHM (CHM Rab Escort Protein) is a Protein Coding gene. Diseases associated with CHM include Choroideremia and Retinitis Pigmentosa. Among its related pathways are Metabolism of proteins and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is CHML.
UniProtKB/Swiss-Prot Summary for CHM Gene: Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. RAE1_HUMAN,P24386

2) RABAC1,  RAB Acceptor 1
 https://www.genecards.org/cgi-bin/carddisp.pl?gene=RABAC1&keywords=Rab,prenylation
 Aliases for RABAC1 Gene
Rab Acceptor 1 2 3 5
Prenylated Rab Acceptor Protein 1 3 4
Rab Acceptor 1 (Prenylated) 2 3
Prenylated Rab Acceptor 1 2 3
PRA1 Family Protein 1 3 4
PRA1 Domain Family 1 2 3
PRAF1 3 4
PRA1 3 4
YIP3 3

GeneCards Summary for RABAC1 Gene
RABAC1 (Rab Acceptor 1) is a Protein Coding gene. Diseases associated with RABAC1 include Pontocerebellar Hypoplasia, Type 3 and Subvalvular Aortic Stenosis. Gene Ontology (GO) annotations related to this gene include identical protein binding and proline-rich region binding.
UniProtKB/Swiss-Prot Summary for RABAC1 Gene
General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI. PRAF1_HUMAN,Q9UI14
  • (3)  Some RAB  Ras oncogene family membres: 
 RAB14 (9q33.2) (SARS2  nsp7  interaction protein)
Aliases for RAB14 Gene
RAB14, Member RAS Oncogene Family 2 3 5
BA165P4.3 (Member RAS Oncogene Family) 2 3
Small GTP Binding Protein RAB14 2 3
F Protein-Binding Protein 1 2 3
Ras-Related Protein Rab-14 3 4
RAB-14 3
FBP 3
RAB14 Gene: Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion. RAB14_HUMAN,P61106
 RAB5C (17q21.2)  (SARS2  nsp7 interaction protein)
Aliases for RAB5C Gene
RAB5C, Member RAS Oncogene Family 2 3 5
RAB5C, Member Of RAS Oncogene Family 2 3
Ras-Related Protein Rab-5C 3 4
L1880 3 4
RAB5L 3 4
RABL 3 4
RAB, Member Of RAS Oncogene Family-Like 2
RAB5CL 3
Entrez Gene Summary for RAB5C Gene Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
GeneCards Summary for RAB5C Gene
RAB5C (RAB5C, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB5C include Argentine Hemorrhagic Fever. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5A.


RAB7A  (3q21.3) (SARS2 nsp7 interaction protein) 
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7A&keywords=Rab,prenylation
Aliases for RAB7A Gene
RAB7A, Member RAS Oncogene Family 2 3 5
RAB7, Member RAS Oncogene Family 2 3
Ras-Related Protein Rab-7a 3 4
RAB7 3 4
Charcot-Marie-Tooth Neuropathy 2B 2
Ras-Associated Protein RAB7 3
PRO2706 3
CMT2B 3
 RAB7A Gene:
Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transporter mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). RAB7A_HUMAN,P51149

 RAB2A (8q12.1-q12.2)  (SARS2 nsp7 interaction protein)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB2A&keywords=Rab,prenylation

Aliases for RAB2A Gene
RAB2A, Member RAS Oncogene Family 2 3 5
RAB2, Member RAS Oncogene Family 2 3
Ras-Related Protein Rab-2A 3 4
RAB2 3 4
Small GTP Binding Protein RAB2A 3
LHX 3
External Ids for RAB2A Gene
Summary for RAB2A Gene.. Required for protein transport from the endoplasmic reticulum to the Golgi complex. RAB2A_HUMAN,P610

 RAB10, ( 2p23.3)    (SARS2 nsp7 interaction protein)
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB10&keywords=RAB10
RAB10, Member RAS Oncogene Family 2 3 5
Ras-Related GTP-Binding Protein 2 3
Ras-Related Protein Rab-10 3 4
GTP-Binding Protein RAB10 3

RAB10 Gene. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:21248164). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:21248164). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane (PubMed:21248164). Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane (By similarity). In parallel, it regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response (By similarity). Plays also a specific role in asymmetric protein transport to the plasma membrane (PubMed:16641372). In neurons, it is involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane (By similarity). In epithelial cells, it regulates transport from the Golgi to the basolateral membrane (PubMed:16641372). May play a role in the basolateral recycling pathway and in phagosome maturation (By similarity). May play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion (PubMed:23263280). Together with LRRK2, RAB8A, and RILPL1, it regulates ciliogenesis (PubMed:30398148). When phosphorylated by LRRK2 on Thr-73, binds RILPL1 and inhibits ciliogenesis (PubMed:30398148). RAB10_HUMAN,P61026

 RAB1A (2p14)  (SARS2 nsp7 interaction protein)
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB1A&keywords=Rab,prenylation
Aliases for RAB1A Gene
RAB1A, Member RAS Oncogene Family 2 3 5
Ras-Related Protein Rab-1A 3 4
YPT1-Related Protein 3 4
RAB1 3 4
RAB1, Member RAS Oncogene Family 3
Rab GTPase YPT1 Homolog (Yeast) 2
GTP Binding Protein Rab1a 3
Rab GTPase YPT1 Homolog 3
YPT1 3
Summary for RAB1A Gene
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport. RAB1A_HUMAN,P62820

 https://d3i71xaburhd42.cloudfront.net/aeaacd9d65e2bb166d22d1483b2406eb84d1c7d4/4-Figure3-1.png

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