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UniProtKB - P24386 (RAE1_HUMAN)

Entry version 180 (31 Jul 2019)
Sequence version 3 (06 Jun 2002)
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Protein

Rab proteins geranylgeranyltransferase component A 1

Gene

CHM

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

Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.2 Publications

<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 functionGTPase activation
Biological processSensory transduction, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
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:
Rab proteins geranylgeranyltransferase component A 1
Alternative name(s):
Choroideremia protein
Rab escort protein 1
Short name:
REP-1
TCD protein
<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:CHM
Synonyms:REP1, TCD
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1940 CHM

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300390 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P24386

<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

Cytoplasm

<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

Choroideremia (CHM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.
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_008273471Q → L in CHM; may affect splicing. 1 Publication1
Natural variantiVAR_066847507H → R in CHM; impairs the interaction with RABGGTA. 1 PublicationCorresponds to variant dbSNP:rs397514603EnsemblClinVar.1
Natural variantiVAR_066848550L → P in CHM. 1 Publication1

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>Mutagenesisi282F → L: Abolishes prenylation of RAB1A and association with RGGT. 1 Publication1
Mutagenesisi290V → F: Impairs prenylation of RAB1A and abolishes association with RGGT. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1121

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CHM

MalaCards human disease database

More...MalaCardsi		CHM
MIMi303100 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188419

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

More...Orphaneti		180 Choroideremia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26471

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHM

Domain mapping of disease mutations (DMDM)

More...DMDMi		21431807

<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 ‘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_00000566861 – 653Rab proteins geranylgeranyltransferase component A 1Add BLAST653

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P24386

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P24386

MaxQB - The MaxQuant DataBase

More...MaxQBi		P24386

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

More...PaxDbi		P24386

PeptideAtlas

More...PeptideAtlasi		P24386

PRoteomics IDEntifications database

More...PRIDEi		P24386

ProteomicsDB human proteome resource

More...ProteomicsDBi		54199 [P24386-1]
54200 [P24386-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P24386

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

More...PhosphoSitePlusi		P24386

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188419 Expressed in 201 organ(s), highest expression level in middle temporal gyrus

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P24386 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB016171
HPA003231

<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

Monomer (By similarity). Heterotrimer composed of RABGGTA, RABGGTB and CHM; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHM (component A) mediates Rab protein binding (PubMed:21905166). Can associate with the Rab GGTase dimer (RGGT or component B) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp (PubMed:18532927).

Interacts with RAB1A, RAB1B, RAB5A, RAB7A and RAB27A and mediates their prenylation (PubMed:7957092).

Interacts with the non-phosphorylated forms of RAB3A, RAB3B, RAB3C, RAB3D, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:29125462).

By similarity5 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107545, 35 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P24386

Protein interaction database and analysis system

More...IntActi		P24386, 53 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000350386

<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

3D structure databases

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

More...SMRi		P24386

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

<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 Rab GDI family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4405 Eukaryota
COG5044 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182994

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231282

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P24386

KEGG Orthology (KO)

More...KOi		K23460

Identification of Orthologs from Complete Genome Data

More...OMAi		GIYCLKR

Database of Orthologous Groups

More...OrthoDBi		1017439at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P24386

TreeFam database of animal gene trees

More...TreeFami		TF320813

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.50.50.60, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR018203 GDP_dissociation_inhibitor
IPR001738 Rab_escort

The PANTHER Classification System

More...PANTHERi		PTHR11787 PTHR11787, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00996 GDI, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016550 Rab_ger_ger_transf_A_euk, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00893 RABESCORT
PR00891 RABGDIREP

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51905 SSF51905, 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.

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
Isoform 1 (identifier: P24386-1) [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
MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF 
        60         70         80         90        100
SFSGLLSWLK EYQENSDIVS DSPVWQDQIL ENEEAIALSR KDKTIQHVEV 
       110        120        130        140        150
FCYASQDLHE DVEEAGALQK NHALVTSANS TEAADSAFLP TEDESLSTMS 
       160        170        180        190        200
CEMLTEQTPS SDPENALEVN GAEVTGEKEN HCDDKTCVPS TSAEDMSENV 
       210        220        230        240        250
PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG LLIDLLIKSN 
       260        270        280        290        300
VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT 
       310        320        330        340        350
FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS 
       360        370        380        390        400
TIDGLKATKN FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL 
       410        420        430        440        450
RHSVQCLVVD KESRKCKAII DQFGQRIISE HFLVEDSYFP ENMCSRVQYR 
       460        470        480        490        500
QISRAVLITD RSVLKTDSDQ QISILTVPAE EPGTFAVRVI ELCSSTMTCM 
       510        520        530        540        550
KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ VEKPRILWAL 
       560        570        580        590        600
YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP 
       610        620        630        640        650
NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE 

SSE
Length:653
Mass (Da):73,476
Last modified:June 6, 2002 - 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:i7CFFAECE7BA1F3AF
GO
Isoform 2 (identifier: P24386-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-110: SQDLHE → RSTLLL
     111-653: Missing.

Note: No experimental confirmation available.
Show »
Length:110
Mass (Da):12,301
Checksum:iAD591A7B415DFD18
GO

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 conflicti625 – 626AS → RA in AAA61032 (PubMed:2215697).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008273471Q → L in CHM; may affect splicing. 1 Publication1
Natural variantiVAR_066847507H → R in CHM; impairs the interaction with RABGGTA. 1 PublicationCorresponds to variant dbSNP:rs397514603EnsemblClinVar.1
Natural variantiVAR_066848550L → P in CHM. 1 Publication1

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_042817105 – 110SQDLHE → RSTLLL in isoform 2. 1 Publication6
Alternative sequenceiVSP_042818111 – 653Missing in isoform 2. 1 PublicationAdd BLAST543

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
X78121 mRNA Translation: CAA55011.1
AL009175 Genomic DNA No translation available.
AL022401 Genomic DNA No translation available.
AL035451 Genomic DNA No translation available.
AL138748 Genomic DNA No translation available.
BC130494 mRNA Translation: AAI30495.1
BC130496 mRNA Translation: AAI30497.1
M83773 mRNA Translation: AAA61032.1
X57637 mRNA Translation: CAA40855.1
S37423
, S37416, S37417, S37422 Genomic DNA Translation: AAD13814.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14454.1 [P24386-1]
CCDS48139.1 [P24386-2]

Protein sequence database of the Protein Information Resource

More...PIRi		I37234

NCBI Reference Sequences

More...RefSeqi		NP_000381.1, NM_000390.3 [P24386-1]
NP_001138886.1, NM_001145414.3 [P24386-2]
NP_001307888.1, NM_001320959.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357749; ENSP00000350386; ENSG00000188419 [P24386-1]
ENST00000615443; ENSP00000484306; ENSG00000188419 [P24386-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1121

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1121

UCSC genome browser

More...UCSCi		uc004eet.3 human [P24386-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Mutations of the REP1 gene

Retina International's Scientific Newsletter

Retinal and hearing impairment genetic mutation database choroideremia (Rab escort protein 1) (CHM)

Leiden Open Variation Database (LOVD)

NGRL, Manchester LOVD choroideremia (Rab escort protein 1) (CHM)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X78121 mRNA Translation: CAA55011.1
AL009175 Genomic DNA No translation available.
AL022401 Genomic DNA No translation available.
AL035451 Genomic DNA No translation available.
AL138748 Genomic DNA No translation available.
BC130494 mRNA Translation: AAI30495.1
BC130496 mRNA Translation: AAI30497.1
M83773 mRNA Translation: AAA61032.1
X57637 mRNA Translation: CAA40855.1
S37423
, S37416, S37417, S37422 Genomic DNA Translation: AAD13814.1
CCDSiCCDS14454.1 [P24386-1]
CCDS48139.1 [P24386-2]
PIRiI37234
RefSeqiNP_000381.1, NM_000390.3 [P24386-1]
NP_001138886.1, NM_001145414.3 [P24386-2]
NP_001307888.1, NM_001320959.1

3D structure databases

SMRiP24386
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107545, 35 interactors
CORUMiP24386
IntActiP24386, 53 interactors
STRINGi9606.ENSP00000350386

PTM databases

iPTMnetiP24386
PhosphoSitePlusiP24386

Polymorphism and mutation databases

BioMutaiCHM
DMDMi21431807

Proteomic databases

EPDiP24386
jPOSTiP24386
MaxQBiP24386
PaxDbiP24386
PeptideAtlasiP24386
PRIDEiP24386
ProteomicsDBi54199 [P24386-1]
54200 [P24386-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357749; ENSP00000350386; ENSG00000188419 [P24386-1]
ENST00000615443; ENSP00000484306; ENSG00000188419 [P24386-2]
GeneIDi1121
KEGGihsa:1121
UCSCiuc004eet.3 human [P24386-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1121
DisGeNETi1121

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHM
GeneReviewsiCHM
HGNCiHGNC:1940 CHM
HPAiCAB016171
HPA003231
MalaCardsiCHM
MIMi300390 gene
303100 phenotype
neXtProtiNX_P24386
OpenTargetsiENSG00000188419
Orphaneti180 Choroideremia
PharmGKBiPA26471

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4405 Eukaryota
COG5044 LUCA
GeneTreeiENSGT00950000182994
HOGENOMiHOG000231282
InParanoidiP24386
KOiK23460
OMAiGIYCLKR
OrthoDBi1017439at2759
PhylomeDBiP24386
TreeFamiTF320813

Enzyme and pathway databases

ReactomeiR-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
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		CHM human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Rab_escort_protein

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

More...GenomeRNAii		1121

Protein Ontology

More...PROi		PR:P24386

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000188419 Expressed in 201 organ(s), highest expression level in middle temporal gyrus
GenevisibleiP24386 HS

Family and domain databases

Gene3Di3.50.50.60, 2 hits
InterProiView protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR018203 GDP_dissociation_inhibitor
IPR001738 Rab_escort
PANTHERiPTHR11787 PTHR11787, 1 hit
PfamiView protein in Pfam
PF00996 GDI, 2 hits
PIRSFiPIRSF016550 Rab_ger_ger_transf_A_euk, 1 hit
PRINTSiPR00893 RABESCORT
PR00891 RABGDIREP
SUPFAMiSSF51905 SSF51905, 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 nameiRAE1_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: P24386
Secondary accession number(s): A1L4D2, O43732
<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: March 1, 1992
Last sequence update: June 6, 2002
Last modified: July 31, 2019
This is version 180 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
UniProt is an ELIXIR core data resource
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