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UniProtKB - P51159 (RB27A_HUMAN)

Entry version 196 (18 Sep 2019)
Sequence version 3 (17 Oct 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Activated by GEFs such as DENND10.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi16 – 24GTPBy similarity9
Nucleotide bindingi74 – 78GTPBy similarity5
Nucleotide bindingi133 – 136GTPBy similarity4
Nucleotide bindingi163 – 165GTPBy similarity3

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processExocytosis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-264876 Insulin processing
R-HSA-6798695 Neutrophil degranulation
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ras-related protein Rab-27A (EC:3.6.5.22 Publications)
Short name:
Rab-27
Alternative name(s):
GTP-binding protein Ram
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAB27A
Synonyms:RAB27
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9766 RAB27A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603868 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51159

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Griscelli syndrome 2 (GS2)4 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01065473W → G in GS2; does not affect GTP binding; cannot interact with MLPH; significant reduction in interaction with UNC13D; abolishes localization to lysosomes. 4 PublicationsCorresponds to variant dbSNP:rs28938176EnsemblClinVar.1
Natural variantiVAR_011334130L → P in GS2; strongly affects GTP binding; cannot interact with MLPH. 3 PublicationsCorresponds to variant dbSNP:rs104894498EnsemblClinVar.1
Natural variantiVAR_011335152A → P in GS2; interferes with melanosome transport. 3 PublicationsCorresponds to variant dbSNP:rs104894499EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi23T → N: GDP-locked. Abolishes interaction with UNC13D and localization to lysosomes. Increases interaction with DENND10. Disrupts late endocytic pathway homeostasis. 2 Publications1
Mutagenesisi70L → P: Abolishes interaction with SYTL2. 1 Publication1
Mutagenesisi76A → V: Abolishes interaction with SYTL2. 1 Publication1
Mutagenesisi78Q → L: GTP-locked. decreases interaction with DENND10. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		5873

MalaCards human disease database

More...MalaCardsi		RAB27A
MIMi607624 phenotype

Open Targets

More...OpenTargetsi		ENSG00000069974

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		79477 Griscelli syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34117

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4105702

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2916

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RAB27A

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242744

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001212212 – 221Ras-related protein Rab-27AAdd BLAST220

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei2PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi123 ↔ 188By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi219S-geranylgeranyl cysteineBy similarity1
Modified residuei221Cysteine methyl esterBy similarity1
Lipidationi221S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Acetylation, Disulfide bond, Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51159

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51159

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51159

MaxQB - The MaxQuant DataBase

More...MaxQBi		P51159

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P51159

PeptideAtlas

More...PeptideAtlasi		P51159

PRoteomics IDEntifications database

More...PRIDEi		P51159

ProteomicsDB human proteome resource

More...ProteomicsDBi		56289 [P51159-1]
56290 [P51159-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51159

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P51159

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P51159

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000069974 Expressed in 218 organ(s), highest expression level in bone marrow

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51159 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51159 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB034046
HPA001333

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5.

Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2.

Interacts with UNC13D. Does not interact with the BLOC-3 complex (heterodimer of HPS1 and HPS4) (PubMed:20048159).

Interacts (GDP-bound form preferentially) with DENND10 (PubMed:30771381).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MLPHQ9BV363EBI-716881,EBI-7042162

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111811, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P51159

Database of interacting proteins

More...DIPi		DIP-44244N

Protein interaction database and analysis system

More...IntActi		P51159, 49 interactors

Molecular INTeraction database

More...MINTi		P51159

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379601

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P51159

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi38 – 46Effector regionBy similarity9

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0081 Eukaryota
ENOG410XQ3T LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156218

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233968

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51159

KEGG Orthology (KO)

More...KOi		K07885

Identification of Orthologs from Complete Genome Data

More...OMAi		KSWIPDG

Database of Orthologous Groups

More...OrthoDBi		1154468at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51159

TreeFam database of animal gene trees

More...TreeFami		TF312895

Family and domain databases

Conserved Domains Database

More...CDDi		cd04127 Rab27A, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417 P-loop_NTPase
IPR041837 Rab27a/b
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00071 Ras, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51419 RAB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BN55H3BN55_HUMAN
Ras-related protein Rab-27A
RAB27A
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BS49H3BS49_HUMAN
Ras-related protein Rab-27A
RAB27A
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BVH7H3BVH7_HUMAN
Ras-related protein Rab-27A
RAB27A
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BU81H3BU81_HUMAN
Ras-related protein Rab-27A
RAB27A
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BUD9H3BUD9_HUMAN
Ras-related protein Rab-27A
RAB27A
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti48E → P in AAC51195 (PubMed:9066979).Curated1
Sequence conflicti48E → P in AAD43049 (PubMed:10931946).Curated1
Sequence conflicti61 – 62AT → PV in AAC51195 (PubMed:9066979).Curated2
Sequence conflicti61 – 62AT → PV in AAD43049 (PubMed:10931946).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02820662T → S. Corresponds to variant dbSNP:rs1050930Ensembl.1
Natural variantiVAR_01065473W → G in GS2; does not affect GTP binding; cannot interact with MLPH; significant reduction in interaction with UNC13D; abolishes localization to lysosomes. 4 PublicationsCorresponds to variant dbSNP:rs28938176EnsemblClinVar.1
Natural variantiVAR_02820784L → F. Corresponds to variant dbSNP:rs4340274Ensembl.1
Natural variantiVAR_02820885T → P. Corresponds to variant dbSNP:rs719705Ensembl.1
Natural variantiVAR_011334130L → P in GS2; strongly affects GTP binding; cannot interact with MLPH. 3 PublicationsCorresponds to variant dbSNP:rs104894498EnsemblClinVar.1
Natural variantiVAR_011335152A → P in GS2; interferes with melanosome transport. 3 PublicationsCorresponds to variant dbSNP:rs104894499EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005529146 – 153Missing in isoform Short. 1 Publication8

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10153.1 [P51159-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I39198

NCBI Reference Sequences

More...RefSeqi		NP_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_005254576.4 [P51159-1]
XP_011520154.1, XM_011521852.1 [P51159-1]
XP_011520156.1, XM_011521854.1 [P51159-1]
XP_011520157.1, XM_011521855.2 [P51159-1]
XP_011520158.1, XM_011521856.2 [P51159-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000336787; ENSP00000337761; ENSG00000069974 [P51159-1]
ENST00000396307; ENSP00000379601; ENSG00000069974 [P51159-1]
ENST00000564609; ENSP00000455012; ENSG00000069974 [P51159-1]
ENST00000569493; ENSP00000456059; ENSG00000069974 [P51159-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5873

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5873

UCSC genome browser

More...UCSCi		uc002aco.4 human [P51159-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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_005254576.4 [P51159-1]
XP_011520154.1, XM_011521852.1 [P51159-1]
XP_011520156.1, XM_011521854.1 [P51159-1]
XP_011520157.1, XM_011521855.2 [P51159-1]
XP_011520158.1, XM_011521856.2 [P51159-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6HUFX-ray2.82A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P2-192[»]
SMRiP51159
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111811, 39 interactors
CORUMiP51159
DIPiDIP-44244N
IntActiP51159, 49 interactors
MINTiP51159
STRINGi9606.ENSP00000379601

Chemistry databases

ChEMBLiCHEMBL4105702
GuidetoPHARMACOLOGYi2916

PTM databases

iPTMnetiP51159
PhosphoSitePlusiP51159
SwissPalmiP51159

Polymorphism and mutation databases

BioMutaiRAB27A
DMDMi116242744

Proteomic databases

EPDiP51159
jPOSTiP51159
MassIVEiP51159
MaxQBiP51159
PaxDbiP51159
PeptideAtlasiP51159
PRIDEiP51159
ProteomicsDBi56289 [P51159-1]
56290 [P51159-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5873
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.4 human [P51159-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5873
DisGeNETi5873

GeneCards: human genes, protein and diseases

More...GeneCardsi		RAB27A
HGNCiHGNC:9766 RAB27A
HPAiCAB034046
HPA001333
MalaCardsiRAB27A
MIMi603868 gene
607624 phenotype
neXtProtiNX_P51159
OpenTargetsiENSG00000069974
Orphaneti79477 Griscelli syndrome type 2
PharmGKBiPA34117

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0081 Eukaryota
ENOG410XQ3T LUCA
GeneTreeiENSGT00940000156218
HOGENOMiHOG000233968
InParanoidiP51159
KOiK07885
OMAiKSWIPDG
OrthoDBi1154468at2759
PhylomeDBiP51159
TreeFamiTF312895

Enzyme and pathway databases

ReactomeiR-HSA-264876 Insulin processing
R-HSA-6798695 Neutrophil degranulation
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		RAB27A human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RAB27A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5873

Pharos

More...Pharosi		P51159

Protein Ontology

More...PROi		PR:P51159

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000069974 Expressed in 218 organ(s), highest expression level in bone marrow
ExpressionAtlasiP51159 baseline and differential
GenevisibleiP51159 HS

Family and domain databases

CDDicd04127 Rab27A, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR041837 Rab27a/b
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRB27A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51159
Secondary accession number(s): O00195
, Q6FI40, Q9UIR9, Q9Y5U3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: September 18, 2019
This is version 196 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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