Details for: RAB27A

Gene ID: 5873

Symbol: RAB27A

Ensembl ID: ENSG00000069974

Description: RAB27A, member RAS oncogene family

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 167.9576
    Cell Significance Index: -26.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.6391
    Cell Significance Index: -22.9900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 74.0628
    Cell Significance Index: -30.5100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 66.9281
    Cell Significance Index: -27.1900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 56.9709
    Cell Significance Index: -29.3100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 42.9941
    Cell Significance Index: -28.8500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.9293
    Cell Significance Index: -27.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.6877
    Cell Significance Index: -26.7400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.0509
    Cell Significance Index: -17.6200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.8269
    Cell Significance Index: -24.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.8550
    Cell Significance Index: -27.0500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.3684
    Cell Significance Index: -17.0600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.1306
    Cell Significance Index: 35.8900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6736
    Cell Significance Index: 1511.1600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4902
    Cell Significance Index: 162.0900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3394
    Cell Significance Index: 80.4100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.0853
    Cell Significance Index: 29.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7787
    Cell Significance Index: 53.8500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7306
    Cell Significance Index: 72.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5613
    Cell Significance Index: 112.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4934
    Cell Significance Index: 176.9800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4540
    Cell Significance Index: 854.7900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.3731
    Cell Significance Index: 6.9000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.3579
    Cell Significance Index: 10.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3472
    Cell Significance Index: 68.9100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2936
    Cell Significance Index: 6.2800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.2920
    Cell Significance Index: 4.3100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.2314
    Cell Significance Index: 4.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2151
    Cell Significance Index: 6.0100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1905
    Cell Significance Index: 2.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1695
    Cell Significance Index: 28.9400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1605
    Cell Significance Index: 7.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1582
    Cell Significance Index: 30.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1477
    Cell Significance Index: 18.1700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1451
    Cell Significance Index: 17.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1406
    Cell Significance Index: 10.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1338
    Cell Significance Index: 6.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1306
    Cell Significance Index: 71.3300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1122
    Cell Significance Index: 4.2500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1075
    Cell Significance Index: 2.8800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0890
    Cell Significance Index: 39.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0764
    Cell Significance Index: 57.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0706
    Cell Significance Index: 3.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0694
    Cell Significance Index: 9.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0666
    Cell Significance Index: 42.3200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0603
    Cell Significance Index: 41.7300
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.0560
    Cell Significance Index: 0.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0510
    Cell Significance Index: 1.4700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0407
    Cell Significance Index: 18.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0406
    Cell Significance Index: 7.3300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0258
    Cell Significance Index: 47.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0226
    Cell Significance Index: 34.8300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0136
    Cell Significance Index: -18.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0151
    Cell Significance Index: -11.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0170
    Cell Significance Index: -2.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0190
    Cell Significance Index: -2.4600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0228
    Cell Significance Index: -1.5300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0253
    Cell Significance Index: -3.2500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0276
    Cell Significance Index: -20.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0336
    Cell Significance Index: -18.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0447
    Cell Significance Index: -2.5100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0499
    Cell Significance Index: -31.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0639
    Cell Significance Index: -2.9800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0646
    Cell Significance Index: -6.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0723
    Cell Significance Index: -1.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0760
    Cell Significance Index: -21.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0887
    Cell Significance Index: -12.9000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1107
    Cell Significance Index: -7.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1172
    Cell Significance Index: -13.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1188
    Cell Significance Index: -6.1700
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1218
    Cell Significance Index: -1.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1370
    Cell Significance Index: -28.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1373
    Cell Significance Index: -14.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1378
    Cell Significance Index: -3.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1382
    Cell Significance Index: -10.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1527
    Cell Significance Index: -17.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1744
    Cell Significance Index: -6.0600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1754
    Cell Significance Index: -1.0600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1998
    Cell Significance Index: -6.4000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2230
    Cell Significance Index: -11.2700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2408
    Cell Significance Index: -4.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2506
    Cell Significance Index: -17.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2671
    Cell Significance Index: -7.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2895
    Cell Significance Index: -3.9500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3230
    Cell Significance Index: -5.4100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3239
    Cell Significance Index: -6.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3286
    Cell Significance Index: -7.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3343
    Cell Significance Index: -21.0700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3506
    Cell Significance Index: -27.7700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3511
    Cell Significance Index: -8.9700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3544
    Cell Significance Index: -7.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3544
    Cell Significance Index: -21.7300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3794
    Cell Significance Index: -10.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3950
    Cell Significance Index: -6.7700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4781
    Cell Significance Index: -25.1000
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.4795
    Cell Significance Index: -7.7100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4901
    Cell Significance Index: -7.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5257
    Cell Significance Index: -32.3100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5754
    Cell Significance Index: -16.4200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **GTPase activity**: RAB27A exhibits GTPase activity, which is crucial for regulating its cycling between active and inactive states. 2. **GTP binding**: RAB27A binds to GTP, facilitating its activation and subsequent interactions with downstream effectors. 3. **Cytoskeletal organization**: RAB27A regulates cytoskeletal organization by modulating the dynamics of the Golgi apparatus and exocytic vesicles. 4. **Exocytosis and secretion**: RAB27A is involved in the regulation of exocytosis and secretion, including the release of granules and vesicles in immune cells. 5. **Antigen processing and presentation**: RAB27A plays a role in antigen processing and presentation, particularly in the context of cytotoxic T cell activation. **Pathways and Functions:** 1. **Antigen processing and presentation**: RAB27A regulates the processing and presentation of antigens by cytotoxic T cells, facilitating their activation and killing of infected cells. 2. **Cytotoxic T cell degranulation**: RAB27A is involved in the regulation of cytotoxic T cell degranulation, which is crucial for the elimination of infected cells. 3. **Exocytic vesicle formation**: RAB27A regulates the formation of exocytic vesicles, including melanosomes and secretory granules. 4. **Golgi apparatus organization**: RAB27A modulates the organization of the Golgi apparatus, influencing the trafficking of proteins and lipids within the cell. 5. **Immune system development and function**: RAB27A is essential for the development and function of immune cells, including natural killer cells, neutrophils, and dendritic cells. **Clinical Significance:** RAB27A's dysregulation has been implicated in various diseases, including: 1. **Autoimmune disorders**: Abnormalities in RAB27A expression have been linked to autoimmune diseases, such as type 1 diabetes and autoimmune hemolytic anemia. 2. **Cancer**: RAB27A is often overexpressed in certain types of cancer, including melanoma and lymphoma, where it contributes to tumor progression and metastasis. 3. **Neurological disorders**: RAB27A mutations have been associated with neurological disorders, such as Parkinson's disease and Alzheimer's disease. 4. **Immunodeficiency**: RAB27A deficiency has been linked to immunodeficiency disorders, including chronic granulomatous disease. In conclusion, RAB27A is a multifunctional gene that plays a critical role in maintaining immune cell function, regulating exocytosis and secretion, and modulating cellular homeostasis. Its dysregulation has significant clinical implications, highlighting the importance of further research into the mechanisms underlying RAB27A's functions and its potential as a therapeutic target for various diseases.

Genular Protein ID: 3537898366

Symbol: RB27A_HUMAN

Name: Ras-related protein Rab-27A

UniProtKB Accession Codes:

P51159 O00195 Q6FI40 Q9UIR9 Q9Y5U3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 13 Ensembl 6 ExpressionAtlas 1 GO 42 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 9 Rhea 2 SMART 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7592656

Title: Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

PubMed ID: 7592656

DOI: 10.1074/jbc.270.41.24420

PubMed ID: 9066979

Title: Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

PubMed ID: 9066979

DOI: 10.1006/bmme.1996.2559

PubMed ID: 10571040

Title: Cloning, mapping and characterization of the human RAB27A gene.

PubMed ID: 10571040

DOI: 10.1016/s0378-1119(99)00371-6

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12062444

Title: Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions.

PubMed ID: 12062444

DOI: 10.1016/s0014-5793(02)02634-0

PubMed ID: 12643545

Title: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.

PubMed ID: 12643545

DOI: 10.1021/pr025562r

PubMed ID: 15548590

Title: Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.

PubMed ID: 15548590

DOI: 10.1091/mbc.e04-10-0923

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 17237785

Title: Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.

PubMed ID: 17237785

DOI: 10.1038/ni1431

PubMed ID: 18812475

Title: A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates in cytotoxic granule secretion.

PubMed ID: 18812475

DOI: 10.1182/blood-2008-02-141069

PubMed ID: 20048159

Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.

PubMed ID: 20048159

DOI: 10.1074/jbc.m109.069088

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30771381

Title: DENN domain-containing protein FAM45A regulates the homeostasis of late/multivesicular endosomes.

PubMed ID: 30771381

DOI: 10.1016/j.bbamcr.2019.02.006

PubMed ID: 10835631

Title: Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

PubMed ID: 10835631

DOI: 10.1038/76024

PubMed ID: 12058346

Title: Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

PubMed ID: 12058346

DOI: 10.1086/341606

PubMed ID: 12446441

Title: Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

PubMed ID: 12446441

DOI: 10.1182/blood-2002-09-2789

PubMed ID: 12531900

Title: Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.

PubMed ID: 12531900

DOI: 10.1074/jbc.m211996200

Sequence Information:

  • Length: 221
  • Mass: 24868
  • Checksum: 4A6A0C8C5CC41A20
  • Sequence:
    • MSDGDYDYLI KFLALGDSGV GKTSVLYQYT DGKFNSKFIT TVGIDFREKR VVYRASGPDG 
ATGRGQRIHL QLWDTAGQER FRSLTTAFFR DAMGFLLLFD LTNEQSFLNV RNWISQLQMH 
AYCENPDIVL CGNKSDLEDQ RVVKEEEAIA LAEKYGIPYF ETSAANGTNI SQAIEMLLDL 
IMKRMERCVD KSWIPEGVVR SNGHASTDQL SEEKEKGACG C

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.