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Protein

Ras-related protein Rab-27A

Gene

RAB27A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi16 – 249GTPBy similarity
Nucleotide bindingi74 – 785GTPBy similarity
Nucleotide bindingi133 – 1364GTPBy similarity
Nucleotide bindingi163 – 1653GTPBy similarity

GO - Molecular functioni

  1. GDP binding Source: UniProtKB
  2. GTPase activity Source: UniProtKB
  3. GTP binding Source: UniProtKB

GO - Biological processi

  1. antigen processing and presentation Source: UniProtKB
  2. blood coagulation Source: Ensembl
  3. cellular protein metabolic process Source: Reactome
  4. complement-dependent cytotoxicity Source: UniProtKB
  5. cytotoxic T cell degranulation Source: Ensembl
  6. exocytosis Source: UniProtKB
  7. exosomal secretion Source: UniProtKB
  8. intracellular protein transport Source: GO_Central
  9. melanocyte differentiation Source: Ensembl
  10. melanosome localization Source: UniProtKB
  11. melanosome transport Source: GO_Central
  12. multivesicular body organization Source: UniProtKB
  13. multivesicular body sorting pathway Source: UniProtKB
  14. natural killer cell degranulation Source: Ensembl
  15. positive regulation of constitutive secretory pathway Source: UniProtKB
  16. positive regulation of exocytosis Source: UniProtKB
  17. positive regulation of gene expression Source: UniProtKB
  18. positive regulation of phagocytosis Source: UniProtKB
  19. positive regulation of reactive oxygen species biosynthetic process Source: UniProtKB
  20. positive regulation of regulated secretory pathway Source: UniProtKB
  21. protein secretion Source: GO_Central
  22. protein targeting Source: Ensembl
  23. Rab protein signal transduction Source: GO_Central
  24. synaptic vesicle transport Source: ParkinsonsUK-UCL
  25. vesicle docking involved in exocytosis Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Exocytosis

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15550. Insulin processing.

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-27A
Short name:
Rab-27
Alternative name(s):
GTP-binding protein Ram
Gene namesi
Name:RAB27A
Synonyms:RAB27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:9766. RAB27A.

Subcellular locationi

Membrane; Lipid-anchor. Melanosome. Late endosome. Lysosome
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes to endosomal exocytic vesicles.

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. dendrite Source: UniProtKB
  3. exocytic vesicle Source: UniProtKB
  4. extracellular vesicular exosome Source: UniProtKB
  5. Golgi apparatus Source: Ensembl
  6. late endosome Source: UniProtKB
  7. lysosome Source: UniProtKB
  8. melanosome Source: UniProtKB
  9. multivesicular body membrane Source: UniProtKB
  10. photoreceptor outer segment Source: Ensembl
  11. secretory granule Source: GO_Central
  12. secretory granule membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Griscelli syndrome 2 (GS2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.

See also OMIM:607624
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731W → G in GS2; does not affect GTP binding; cannot interact with MLPH; significant reduction in interaction with UNC13D; abolishes localization to lysosomes. 4 Publications
Corresponds to variant rs28938176 [ dbSNP | Ensembl ].
VAR_010654
Natural varianti130 – 1301L → P in GS2; strongly affects GTP binding; cannot interact with MLPH. 3 Publications
VAR_011334
Natural varianti152 – 1521A → P in GS2; interferes with melanosome transport. 3 Publications
VAR_011335

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi23 – 231T → N: Abolishes interaction with UNC13D and localization to lysosomes. 1 Publication
Mutagenesisi70 – 701L → P: Abolishes interaction with SYTL2. 1 Publication
Mutagenesisi76 – 761A → V: Abolishes interaction with SYTL2. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi607624. phenotype.
Orphaneti79477. Griscelli disease type 2.
PharmGKBiPA34117.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 221220Ras-related protein Rab-27APRO_0000121221Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Disulfide bondi123 ↔ 188By similarity
Lipidationi219 – 2191S-geranylgeranyl cysteineBy similarity
Modified residuei221 – 2211Cysteine methyl esterBy similarity
Lipidationi221 – 2211S-geranylgeranyl cysteineBy similarity

Keywords - PTMi

Acetylation, Disulfide bond, Lipoprotein, Methylation, Prenylation

Proteomic databases

MaxQBiP51159.
PaxDbiP51159.
PeptideAtlasiP51159.
PRIDEiP51159.

PTM databases

PhosphoSiteiP51159.

Expressioni

Tissue specificityi

Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.1 Publication

Gene expression databases

BgeeiP51159.
CleanExiHS_RAB27A.
ExpressionAtlasiP51159. baseline and differential.
GenevestigatoriP51159.

Organism-specific databases

HPAiCAB034046.
HPA001333.

Interactioni

Subunit structurei

Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D.By similarity4 Publications

Protein-protein interaction databases

BioGridi111811. 25 interactions.
IntActiP51159. 11 interactions.
MINTiMINT-1377654.
STRINGi9606.ENSP00000337761.

Structurei

3D structure databases

ProteinModelPortaliP51159.
SMRiP51159. Positions 4-187.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi38 – 469Effector regionBy similarity

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00770000120510.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiP51159.
KOiK07885.
OMAiKEKGACG.
OrthoDBiEOG7FFMSC.
PhylomeDBiP51159.
TreeFamiTF312895.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SMARTiSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: P51159-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSDGDYDYLI KFLALGDSGV GKTSVLYQYT DGKFNSKFIT TVGIDFREKR
60 70 80 90 100
VVYRASGPDG ATGRGQRIHL QLWDTAGQER FRSLTTAFFR DAMGFLLLFD
110 120 130 140 150
LTNEQSFLNV RNWISQLQMH AYCENPDIVL CGNKSDLEDQ RVVKEEEAIA
160 170 180 190 200
LAEKYGIPYF ETSAANGTNI SQAIEMLLDL IMKRMERCVD KSWIPEGVVR
210 220
SNGHASTDQL SEEKEKGACG C
Length:221
Mass (Da):24,868
Last modified:October 17, 2006 - v3
Checksum:i4A6A0C8C5CC41A20
GO
Isoform Short (identifier: P51159-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-153: Missing.

Note: No experimental confirmation available.

Show »
Length:213
Mass (Da):24,041
Checksum:i9A2B95ECB4BC2BFE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti48 – 481E → P in AAC51195 (PubMed:9066979).Curated
Sequence conflicti48 – 481E → P in AAD43049 (PubMed:10931946).Curated
Sequence conflicti61 – 622AT → PV in AAC51195 (PubMed:9066979).Curated
Sequence conflicti61 – 622AT → PV in AAD43049 (PubMed:10931946).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621T → S.
Corresponds to variant rs1050930 [ dbSNP | Ensembl ].
VAR_028206
Natural varianti73 – 731W → G in GS2; does not affect GTP binding; cannot interact with MLPH; significant reduction in interaction with UNC13D; abolishes localization to lysosomes. 4 Publications
Corresponds to variant rs28938176 [ dbSNP | Ensembl ].
VAR_010654
Natural varianti84 – 841L → F.
Corresponds to variant rs4340274 [ dbSNP | Ensembl ].
VAR_028207
Natural varianti85 – 851T → P.
Corresponds to variant rs719705 [ dbSNP | Ensembl ].
VAR_028208
Natural varianti130 – 1301L → P in GS2; strongly affects GTP binding; cannot interact with MLPH. 3 Publications
VAR_011334
Natural varianti152 – 1521A → P in GS2; interferes with melanosome transport. 3 Publications
VAR_011335

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei146 – 1538Missing in isoform Short. 1 PublicationVSP_005529

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U38654 mRNA. Translation: AAC50271.2.
U57094 mRNA. Translation: AAC51195.1.
AF154840
, AF154836, AF154837, AF154838, AF154839 Genomic DNA. Translation: AAD47629.1.
AF125393 mRNA. Translation: AAD43049.1.
AF443871 Genomic DNA. Translation: AAL39097.1.
AF498953 mRNA. Translation: AAM21101.1.
CR536496 mRNA. Translation: CAG38735.1.
CR541693 mRNA. Translation: CAG46494.1.
BC107680 mRNA. Translation: AAI07681.1.
CCDSiCCDS10153.1. [P51159-1]
PIRiI39198.
RefSeqiNP_004571.2. NM_004580.4. [P51159-1]
NP_899057.1. NM_183234.2. [P51159-1]
NP_899058.1. NM_183235.2. [P51159-1]
NP_899059.1. NM_183236.2. [P51159-1]
XP_005254633.1. XM_005254576.2. [P51159-1]
UniGeneiHs.654978.
Hs.735555.

Genome annotation databases

EnsembliENST00000336787; ENSP00000337761; ENSG00000069974. [P51159-1]
ENST00000396307; ENSP00000379601; ENSG00000069974. [P51159-1]
ENST00000564609; ENSP00000455012; ENSG00000069974. [P51159-1]
ENST00000569493; ENSP00000456059; ENSG00000069974. [P51159-1]
GeneIDi5873.
KEGGihsa:5873.
UCSCiuc002aco.3. human. [P51159-1]

Polymorphism databases

DMDMi116242744.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

RAB27Abase

RAB27A mutation db

Mutations of the RAB27A gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U38654 mRNA. Translation: AAC50271.2.
U57094 mRNA. Translation: AAC51195.1.
AF154840
, AF154836, AF154837, AF154838, AF154839 Genomic DNA. Translation: AAD47629.1.
AF125393 mRNA. Translation: AAD43049.1.
AF443871 Genomic DNA. Translation: AAL39097.1.
AF498953 mRNA. Translation: AAM21101.1.
CR536496 mRNA. Translation: CAG38735.1.
CR541693 mRNA. Translation: CAG46494.1.
BC107680 mRNA. Translation: AAI07681.1.
CCDSiCCDS10153.1. [P51159-1]
PIRiI39198.
RefSeqiNP_004571.2. NM_004580.4. [P51159-1]
NP_899057.1. NM_183234.2. [P51159-1]
NP_899058.1. NM_183235.2. [P51159-1]
NP_899059.1. NM_183236.2. [P51159-1]
XP_005254633.1. XM_005254576.2. [P51159-1]
UniGeneiHs.654978.
Hs.735555.

3D structure databases

ProteinModelPortaliP51159.
SMRiP51159. Positions 4-187.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111811. 25 interactions.
IntActiP51159. 11 interactions.
MINTiMINT-1377654.
STRINGi9606.ENSP00000337761.

PTM databases

PhosphoSiteiP51159.

Polymorphism databases

DMDMi116242744.

Proteomic databases

MaxQBiP51159.
PaxDbiP51159.
PeptideAtlasiP51159.
PRIDEiP51159.

Protocols and materials databases

DNASUi5873.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336787; ENSP00000337761; ENSG00000069974. [P51159-1]
ENST00000396307; ENSP00000379601; ENSG00000069974. [P51159-1]
ENST00000564609; ENSP00000455012; ENSG00000069974. [P51159-1]
ENST00000569493; ENSP00000456059; ENSG00000069974. [P51159-1]
GeneIDi5873.
KEGGihsa:5873.
UCSCiuc002aco.3. human. [P51159-1]

Organism-specific databases

CTDi5873.
GeneCardsiGC15M055495.
HGNCiHGNC:9766. RAB27A.
HPAiCAB034046.
HPA001333.
MIMi603868. gene.
607624. phenotype.
neXtProtiNX_P51159.
Orphaneti79477. Griscelli disease type 2.
PharmGKBiPA34117.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00770000120510.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiP51159.
KOiK07885.
OMAiKEKGACG.
OrthoDBiEOG7FFMSC.
PhylomeDBiP51159.
TreeFamiTF312895.

Enzyme and pathway databases

ReactomeiREACT_15550. Insulin processing.

Miscellaneous databases

ChiTaRSiRAB27A. human.
GeneWikiiRAB27A.
GenomeRNAii5873.
NextBioi22812.
PROiP51159.
SOURCEiSearch...

Gene expression databases

BgeeiP51159.
CleanExiHS_RAB27A.
ExpressionAtlasiP51159. baseline and differential.
GenevestigatoriP51159.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SMARTiSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Deficient geranylgeranylation of Ram/Rab27 in choroideremia."
    Seabra M.C., Ho Y.K., Anant J.S.
    J. Biol. Chem. 270:24420-24427(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), PARTIAL PROTEIN SEQUENCE.
    Tissue: Retina.
  2. Seabra M.C.
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 99.
  3. "Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets."
    Chen D., Guo J., Miki T., Tachibana M., Gahl W.A.
    Biochem. Mol. Med. 60:27-37(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
    Tissue: Melanocyte.
  4. "Cloning, mapping and characterization of the human RAB27A gene."
    Tolmachova T., Ramalho J.S., Anant J.S., Schultz R.A., Huxley C.M., Seabra M.C.
    Gene 239:109-116(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
    Tissue: Pituitary.
  6. "Genomic organization of the human RAB27A gene."
    Anderson P.D., Huizing M., Anikster Y., Gahl W.A.
    Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM LONG).
  7. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Puhl H.L. III, Ikeda S.R., Aronstam R.S.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
    Tissue: Brain.
  8. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Mammary gland.
  10. "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
    Nagashima K., Torii S., Yi Z., Igarashi M., Okamoto K., Takeuchi T., Izumi T.
    FEBS Lett. 517:233-238(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MLPH.
  11. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  12. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH UNC13D, TISSUE SPECIFICITY, MUTAGENESIS OF THR-23, CHARACTERIZATION OF VARIANT GS2 GLY-73.
  13. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  14. "Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4."
    Menager M.M., Menasche G., Romao M., Knapnougel P., Ho C.-H., Garfa M., Raposo G., Feldmann J., Fischer A., de Saint Basile G.
    Nat. Immunol. 8:257-267(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH UNC13D, SUBCELLULAR LOCATION.
  15. "A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates in cytotoxic granule secretion."
    Menasche G., Menager M.M., Lefebvre J.M., Deutsch E., Athman R., Lambert N., Mahlaoui N., Court M., Garin J., Fischer A., de Saint Basile G.
    Blood 112:5052-5062(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH SYTL2, MUTAGENESIS OF LEU-70 AND ALA-76.
  16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  18. "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome."
    Menasche G., Pastural E., Feldmann J., Certain S., Ersoy F., Dupuis S., Wulffraat N., Bianchi D., Fischer A., Le Deist F., de Saint Basile G.
    Nat. Genet. 25:173-176(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GS2 GLY-73; PRO-130 AND PRO-152.
  19. "Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A."
    Anikster Y., Huizing M., Anderson P.D., Fitzpatrick D.L., Klar A., Gross-Kieselstein E., Berkun Y., Shazberg G., Gahl W.A., Hurvitz H.
    Am. J. Hum. Genet. 71:407-414(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GRISCELLI SYNDROME.
  20. "Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients."
    Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G.
    Blood 101:2736-2742(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS GS2 GLY-73; PRO-130 AND PRO-152.
  21. "Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome."
    Bahadoran P., Busca R., Chiaverini C., Westbroek W., Lambert J., Bille K., Valony G., Fukuda M., Naeyaert J.-M., Ortonne J.-P., Ballotti R.
    J. Biol. Chem. 278:11386-11392(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS GS2 GLY-73; PRO-130 AND PRO-152.

Entry informationi

Entry nameiRB27A_HUMAN
AccessioniPrimary (citable) accession number: P51159
Secondary accession number(s): O00195
, Q6FI40, Q9UIR9, Q9Y5U3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: April 1, 2015
This is version 156 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.