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Protein-coding gene in humans
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene. The protein encoded by this gene belongs to the small GTPase superfamily
RAB27A
Medical condition
retina. RAB27A, a Rab that has essential functions in the retina, has been shown to be preferentially prenylated by REP1. Additionally, the Rab27a-REP1 and
Choroideremia
Medical condition
seen in Rab27A deficient children, this is thought to be a secondary effect of the immune problems, and not directly due to the lack of Rab27A. Munc13-4
Griscelli_syndrome
Protein family
geranylgeranyl groups on the two C-terminal cysteines. Rab27 has two main isoforms: Rab27a and Rab27b. These are similar in primary composition, with 66% similarity
RAB27
Protein-coding gene in the species Homo sapiens
The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein
Melanophilin
Immune disorder in the blood leading to hyperinflammation
virus. These mutations include those in the following genes: UNC13D, STX11, RAB27A, STXBP2, LYST, PRF1 1, SH2D1A, BIRC4, ITK, CD27, and MAGT1. Secondary HLH
Hemophagocytic lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis
Monoamine neurotransmitter
substrates include several metabolic enzymes (GAPDH, mTOR), Rab GTPases (Rab3a, Rab27a), Rho GTPases (RhoA, Rac1, Cdc42), proteins involved in muscle contractility
Serotonin
Protein-coding gene in the species Homo sapiens
domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain". J. Biol. Chem. 277 (11): 9212–8. doi:10.1074/jbc.M112414200
SYTL4
Post-translational modification involving the monoamine serotonin
substrates include several metabolic enzymes (GAPDH, mTOR), Rab GTPases (Rab3a, Rab27a), Rho GTPases (RhoA, Rac1, Cdc42), proteins involved in muscle contractility
Serotonylation
Protein-coding gene in the species Homo sapiens
neurons and melanocytes. MYO5A has been shown to interact with DYNLL1, RAB27A, DYNLL2, RPGRIP1L, and Rab3A. Defects in Myosin Va are associated with Griscelli
Unconventional_myosin-Va
Gene of the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RIMS1
Protein superfamily of small GTPases
RAB17; RAB18; RAB19; RAB20; RAB21; RAB22A; RAB23; RAB24; RAB25; RAB26; RAB27A; RAB27B; RAB28; RAB2B; RAB30; RAB31; RAB32; RAB33A; RAB33B; RAB34; RAB35;
Ras_superfamily
Protein-coding gene in the species Homo sapiens
known as EXPH5, is a human gene. EXPH5 has been shown to interact with RAB27A. GRCh38: Ensembl release 89: ENSG00000110723 – Ensembl, May 2017 GRCm38:
EXPH5
Protein-coding gene in the species Homo sapiens
humans is encoded by the SYTL1 gene. SYTL1 has been shown to interact with RAB27A. GRCh38: Ensembl release 89: ENSG00000142765 – Ensembl, May 2017 GRCm38:
SYTL1
Protein-coding gene in the species Homo sapiens
domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain". The Journal of Biological Chemistry. 277 (11): 9212–8.
RAB8A
GRIN2B-related neurodevelopmental disorder GRIN2B Griscelli syndrome MYO5A, RAB27A, MLPH Gustavson syndrome Hailey–Hailey disease ATP2C1 (3) Harlequin type
List_of_genetic_disorders
Protein-coding gene in the species Homo sapiens
to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A), which suggests a role in vesicle trafficking. Multiple alternatively spiced
SYTL2
Storage granules of endothelial cells
a large number of membrane proteins. These include Rab GTPases such as Rab27A, Rab3B and Rab3D, Rab effectors and SNARE proteins, which together form
Weibel–Palade_body
Protein-coding gene in the species Homo sapiens
humans is encoded by the RPH3AL gene. RPH3AL has been shown to interact with RAB27A. ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031
RPH3AL
Bannayan–Riley–Ruvalcaba syndrome Cowden syndrome PTPN11 LEOPARD syndrome RAB27A Griscelli syndrome RAG1 Severe combined immunodeficiency RAG2 Severe combined
List of genes mutated in cutaneous conditions
List_of_genes_mutated_in_cutaneous_conditions
Medical condition
with mutations in the MYO5A gene Type 2 is associated with mutations in RAB27A gene. Both these genes are located on the long arm of chromosome 15 (15q21)
Griscelli_syndrome_type_2
Vesicles found outside cells
Carmo NB, Krumeich S, Fanget I, Raposo G, Savina A, et al. (January 2010). "Rab27a and Rab27b control different steps of the exosome secretion pathway". Nature
Extracellular_vesicle
Post-translational modifications involving monoamines
Histone Protein H3 Rho GTPases (RhoA, Rac1, Cdc42) Rab GTPases (Rab3a, Rab27a) Ras, SERCA2a, GAPDH, mTOR, TPI1 Fibronectin, α-actinin Discovered 1957
Monoaminylation
Protein-coding gene in humans
PMID 19131769. S2CID 25882775. Saxena SK, Horiuchi H, Fukuda M (2006). "Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like
UNC13D
Gene of the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J Biol Chem. 278 (17): 15373–80. doi:10.1074/jbc.M212341200
RIMS2
Protein-coding gene in the species Homo sapiens
dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells". The Journal of Biological Chemistry. 278 (17): 15390–15396
STXBP1
Group of disorders
those infected with EBV. These include mutations in the UNC13D, STX11, RAB27A, STXBP2, and LYST genes that encode elements needed for these cells to discharge
Epstein–Barr virus–associated lymphoproliferative diseases
Epstein–Barr_virus–associated_lymphoproliferative_diseases
Gene of the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RPH3A
Protein-coding gene in the species Homo sapiens
(2006). "Identification of EPI64 as a GTPase-activating protein specific for Rab27A". J. Biol. Chem. 281 (42): 31823–31. doi:10.1074/jbc.M603808200. PMID 16923811
TBC1D10A
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RAB26
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80
RAB3B
Mammalian protein found in humans
(May 2008). "Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport". The Journal of Biological
Microphthalmia-associated transcription factor
Microphthalmia-associated_transcription_factor
Protein-coding gene in the species Homo sapiens
Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A". Am. J. Hum. Genet. 71 (2): 407–14. doi:10.1086/341606. PMC 379173
PIGB
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RAB3A
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RAB15
Field of study
the transcription factor Onecut2 (OC2) that controls the expression of RAB27A effector granuphilin, a key factor in controlling insulin release. Also
Epigenetics of diabetes type 2
Epigenetics_of_diabetes_type_2
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80
RAB3C
Protein-coding gene in the species Homo sapiens
domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain". J. Biol. Chem. 277 (11): 9212–8. doi:10.1074/jbc.M112414200
RAB40A
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RAB37
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi:10.1074/jbc
RAB3D
Protein-coding gene in the species Homo sapiens
rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80
RAB10
Q969Q5 13304 RAB25 HGNC:18238; P57735 13305 RAB26 HGNC:14259; Q9ULW5 13306 RAB27A HGNC:9766; P51159 13307 RAB27B HGNC:9767; O00194 13308 RAB28 HGNC:9768;
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
Protein-coding gene in humans
lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A". Human Mutation. 27 (1): 62–8. doi:10.1002/humu.20274. PMID 16278825. S2CID 19226893
STX11
Griscelli syndrome type 1; 214450; MYO5A Griscelli syndrome type 2; 607624; RAB27A Griscelli syndrome type 3; 609227; MLPH Growth hormone deficiency with pituitary
List_of_OMIM_disorder_codes
RAB27A
RAB27A
RAB27A
RAB27A
Girl/Female
Hindu, Indian, Punjabi
Love; Moment of Life
Boy/Male
Biblical
Eminences, high places.
Boy/Male
Tamil
Best wishes, Offering to God
Girl/Female
Indian, Modern
Eyes of Stars
Boy/Male
Spanish
Greek Damaris 'gentle.
Girl/Female
Hindu, Indian
Sky
Boy/Male
Muslim
Hope or desire, Army Man, Wish
Surname or Lastname
English
English : topographic name for someone living by a notable broad oak, from Old English brÄd ‘broad’ + Äc ‘oak’, or a habitational name from a minor place so named, such as Broad Oak in Symondsbury, Dorset. Braddock in Cornwall (Brodehoc in Domesday Book) may have this origin; the second element may however be Old English hÅc ‘hook of land’, ‘hill spur’.
Surname or Lastname
English
English : patronymic from Foulks.
Girl/Female
Hindu
Goddess of gold, Daughter
RAB27A
RAB27A
RAB27A
RAB27A
RAB27A