UniProtKB - P24386 (RAE1_HUMAN)
Rab proteins geranylgeranyltransferase component A 1
CHM
Functioni
GO - Molecular functioni
- GDP-dissociation inhibitor activity Source: InterPro
- GTPase activator activity Source: UniProtKB-KW
- Rab geranylgeranyltransferase activity Source: ProtInc
- Rab GTPase binding Source: UniProtKB
GO - Biological processi
- post-translational protein modification Source: Reactome
- protein geranylgeranylation Source: UniProtKB
- protein targeting to membrane Source: UniProtKB
- regulation of apoptotic process Source: Reactome
- small GTPase mediated signal transduction Source: InterPro
- vesicle-mediated transport Source: GO_Central
- visual perception Source: ProtInc
Keywordsi
Molecular function | GTPase activation |
Biological process | Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | P24386 |
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 |
Names & Taxonomyi
Protein namesi | Recommended name: Rab proteins geranylgeranyltransferase component A 1Alternative name(s): Choroideremia protein Rab escort protein 1 Short name: REP-1 TCD protein |
Gene namesi | Name:CHM Synonyms:REP1, TCD |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000188419.13 |
HGNCi | HGNC:1940, CHM |
MIMi | 300390, gene |
neXtProti | NX_P24386 |
Subcellular locationi
Cytosol
- cytosol 1 Publication
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
- Rab-protein geranylgeranyltransferase complex Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Choroideremia (CHM)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008273 | 471 | Q → L in CHM; may affect splicing. 1 Publication | 1 | |
Natural variantiVAR_066847 | 507 | H → R in CHM; impairs the interaction with RABGGTA. 1 PublicationCorresponds to variant dbSNP:rs397514603EnsemblClinVar. | 1 | |
Natural variantiVAR_066848 | 550 | L → P in CHM. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 282 | F → L: Abolishes prenylation of RAB1A and association with RGGT. 1 Publication | 1 | |
Mutagenesisi | 290 | V → F: Impairs prenylation of RAB1A and abolishes association with RGGT. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 1121 |
GeneReviewsi | CHM |
MalaCardsi | CHM |
MIMi | 303100, phenotype |
OpenTargetsi | ENSG00000188419 |
Orphaneti | 180, Choroideremia |
PharmGKBi | PA26471 |
Miscellaneous databases
Pharosi | P24386, Tbio |
Polymorphism and mutation databases
BioMutai | CHM |
DMDMi | 21431807 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000056686 | 1 – 653 | Rab proteins geranylgeranyltransferase component A 1Add BLAST | 653 |
Proteomic databases
EPDi | P24386 |
jPOSTi | P24386 |
MassIVEi | P24386 |
MaxQBi | P24386 |
PaxDbi | P24386 |
PeptideAtlasi | P24386 |
PRIDEi | P24386 |
ProteomicsDBi | 54199 [P24386-1] 54200 [P24386-2] |
PTM databases
iPTMneti | P24386 |
PhosphoSitePlusi | P24386 |
Expressioni
Gene expression databases
Bgeei | ENSG00000188419, Expressed in middle temporal gyrus and 214 other tissues |
Genevisiblei | P24386, HS |
Organism-specific databases
HPAi | ENSG00000188419, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
P24386
With | #Exp. | IntAct |
---|---|---|
RABGGTA [Q92696] | 2 | EBI-2515129,EBI-9104196 |
GO - Molecular functioni
- Rab GTPase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107545, 35 interactors |
CORUMi | P24386 |
IntActi | P24386, 70 interactors |
STRINGi | 9606.ENSP00000350386 |
Miscellaneous databases
RNActi | P24386, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4405, Eukaryota |
GeneTreei | ENSGT00950000182994 |
HOGENOMi | CLU_021695_4_1_1 |
InParanoidi | P24386 |
OMAi | GIYCLKR |
OrthoDBi | 1017439at2759 |
PhylomeDBi | P24386 |
TreeFami | TF320813 |
Family and domain databases
Gene3Di | 3.50.50.60, 2 hits |
InterProi | View protein in InterPro IPR036188, FAD/NAD-bd_sf IPR018203, GDP_dissociation_inhibitor IPR001738, Rab_escort |
PANTHERi | PTHR11787, PTHR11787, 1 hit |
Pfami | View protein in Pfam PF00996, GDI, 2 hits |
PIRSFi | PIRSF016550, Rab_ger_ger_transf_A_euk, 1 hit |
PRINTSi | PR00893, RABESCORT PR00891, RABGDIREP |
SUPFAMi | SSF51905, SSF51905, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 625 – 626 | AS → RA in AAA61032 (PubMed:2215697).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008273 | 471 | Q → L in CHM; may affect splicing. 1 Publication | 1 | |
Natural variantiVAR_066847 | 507 | H → R in CHM; impairs the interaction with RABGGTA. 1 PublicationCorresponds to variant dbSNP:rs397514603EnsemblClinVar. | 1 | |
Natural variantiVAR_066848 | 550 | L → P in CHM. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042817 | 105 – 110 | SQDLHE → RSTLLL in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_042818 | 111 – 653 | Missing in isoform 2. 1 PublicationAdd BLAST | 543 |
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 |
CCDSi | CCDS14454.1 [P24386-1] CCDS48139.1 [P24386-2] |
PIRi | I37234 |
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
Ensembli | ENST00000357749; ENSP00000350386; ENSG00000188419 [P24386-1] ENST00000615443; ENSP00000484306; ENSG00000188419 [P24386-2] |
GeneIDi | 1121 |
KEGGi | hsa:1121 |
UCSCi | uc004eet.3, human [P24386-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS14454.1 [P24386-1] CCDS48139.1 [P24386-2] |
PIRi | I37234 |
RefSeqi | NP_000381.1, NM_000390.3 [P24386-1] NP_001138886.1, NM_001145414.3 [P24386-2] NP_001307888.1, NM_001320959.1 |
3D structure databases
SMRi | P24386 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107545, 35 interactors |
CORUMi | P24386 |
IntActi | P24386, 70 interactors |
STRINGi | 9606.ENSP00000350386 |
PTM databases
iPTMneti | P24386 |
PhosphoSitePlusi | P24386 |
Polymorphism and mutation databases
BioMutai | CHM |
DMDMi | 21431807 |
Proteomic databases
EPDi | P24386 |
jPOSTi | P24386 |
MassIVEi | P24386 |
MaxQBi | P24386 |
PaxDbi | P24386 |
PeptideAtlasi | P24386 |
PRIDEi | P24386 |
ProteomicsDBi | 54199 [P24386-1] 54200 [P24386-2] |
Protocols and materials databases
Antibodypediai | 492, 166 antibodies |
Genome annotation databases
Ensembli | ENST00000357749; ENSP00000350386; ENSG00000188419 [P24386-1] ENST00000615443; ENSP00000484306; ENSG00000188419 [P24386-2] |
GeneIDi | 1121 |
KEGGi | hsa:1121 |
UCSCi | uc004eet.3, human [P24386-1] |
Organism-specific databases
CTDi | 1121 |
DisGeNETi | 1121 |
EuPathDBi | HostDB:ENSG00000188419.13 |
GeneCardsi | CHM |
GeneReviewsi | CHM |
HGNCi | HGNC:1940, CHM |
HPAi | ENSG00000188419, Low tissue specificity |
MalaCardsi | CHM |
MIMi | 300390, gene 303100, phenotype |
neXtProti | NX_P24386 |
OpenTargetsi | ENSG00000188419 |
Orphaneti | 180, Choroideremia |
PharmGKBi | PA26471 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4405, Eukaryota |
GeneTreei | ENSGT00950000182994 |
HOGENOMi | CLU_021695_4_1_1 |
InParanoidi | P24386 |
OMAi | GIYCLKR |
OrthoDBi | 1017439at2759 |
PhylomeDBi | P24386 |
TreeFami | TF320813 |
Enzyme and pathway databases
PathwayCommonsi | P24386 |
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 |
Miscellaneous databases
BioGRID-ORCSi | 1121, 10 hits in 470 CRISPR screens |
ChiTaRSi | CHM, human |
GeneWikii | Rab_escort_protein |
GenomeRNAii | 1121 |
Pharosi | P24386, Tbio |
PROi | PR:P24386 |
RNActi | P24386, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000188419, Expressed in middle temporal gyrus and 214 other tissues |
Genevisiblei | P24386, HS |
Family and domain databases
Gene3Di | 3.50.50.60, 2 hits |
InterProi | View protein in InterPro IPR036188, FAD/NAD-bd_sf IPR018203, GDP_dissociation_inhibitor IPR001738, Rab_escort |
PANTHERi | PTHR11787, PTHR11787, 1 hit |
Pfami | View protein in Pfam PF00996, GDI, 2 hits |
PIRSFi | PIRSF016550, Rab_ger_ger_transf_A_euk, 1 hit |
PRINTSi | PR00893, RABESCORT PR00891, RABGDIREP |
SUPFAMi | SSF51905, SSF51905, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RAE1_HUMAN | |
Accessioni | P24386Primary (citable) accession number: P24386 Secondary accession number(s): A1L4D2, O43732 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 1992 |
Last sequence update: | June 6, 2002 | |
Last modified: | December 2, 2020 | |
This is version 187 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations