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UniProtKB - P24386 (RAE1_HUMAN)

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Protein

Rab proteins geranylgeranyltransferase component A 1

Gene

CHM

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

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

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
View the complete GO annotation on QuickGO ...

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
  • visual perception Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGTPase activation
Biological processSensory transduction, Vision

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

Names & Taxonomyi

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
Gene namesi
Name:CHM
Synonyms:REP1, TCD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000188419.13
HGNCiHGNC:1940 CHM
MIMi300390 gene
neXtProtiNX_P24386

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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.
See also OMIM:303100
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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi1121
GeneReviewsiCHM
MalaCardsiCHM
MIMi303100 phenotype
OpenTargetsiENSG00000188419
Orphaneti180 Choroideremia
PharmGKBiPA26471

Polymorphism and mutation databases

BioMutaiCHM
DMDMi21431807

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000566861 – 653Rab proteins geranylgeranyltransferase component A 1Add BLAST653

Proteomic databases

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

PTM databases

iPTMnetiP24386
PhosphoSitePlusiP24386

Expressioni

Gene expression databases

BgeeiENSG00000188419
CleanExiHS_CHM
GenevisibleiP24386 HS

Organism-specific databases

HPAiCAB016171
HPA003231

Interactioni

Subunit structurei

Monomer. 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. 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. Interacts with RAB1A, RAB1B, RAB5A, RAB7A and RAB27A and mediates their prenylation.3 Publications

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107545, 34 interactors
IntActiP24386, 53 interactors
STRINGi9606.ENSP00000350386

Structurei

3D structure databases

ProteinModelPortaliP24386
SMRiP24386
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Rab GDI family.Curated

Phylogenomic databases

eggNOGiKOG4405 Eukaryota
COG5044 LUCA
GeneTreeiENSGT00530000063044
HOGENOMiHOG000220905
HOVERGENiHBG004961
InParanoidiP24386
OMAiICPNEDF
OrthoDBiEOG091G01LC
PhylomeDBiP24386
TreeFamiTF320813

Family and domain databases

Gene3Di3.50.50.60, 4 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, 2 hits

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P24386-1) [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
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
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
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
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:
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
NP_001307888.1, NM_001320959.1
UniGeneiHs.496449

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRAE1_HUMAN
AccessioniPrimary (citable) accession number: P24386
Secondary accession number(s): A1L4D2, O43732
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: June 6, 2002
Last modified: June 20, 2018
This is version 170 of the entry and version 3 of the sequence. See 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, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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

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