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Protein

Rab proteins geranylgeranyltransferase component A 2

Gene

CHML

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

Functioni

Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.3 Publications

Miscellaneous

Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP-1.

GO - Molecular functioni

  • GDP-dissociation inhibitor activity Source: InterPro
  • GTPase activator activity Source: UniProtKB-KW
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-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 2
Alternative name(s):
Choroideremia-like protein
Rab escort protein 2
Short name:
REP-2
Gene namesi
Name:CHML
Synonyms:REP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000203668.1
HGNCiHGNC:1941 CHML
MIMi118825 gene
neXtProtiNX_P26374

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

Organism-specific databases

DisGeNETi1122
OpenTargetsiENSG00000203668
PharmGKBiPA26472

Polymorphism and mutation databases

BioMutaiCHML
DMDMi47117837

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000566891 – 656Rab proteins geranylgeranyltransferase component A 2Add BLAST656

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei649PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP26374
MaxQBiP26374
PaxDbiP26374
PeptideAtlasiP26374
PRIDEiP26374

PTM databases

iPTMnetiP26374
PhosphoSitePlusiP26374

Expressioni

Gene expression databases

BgeeiENSG00000203668
CleanExiHS_CHML
ExpressionAtlasiP26374 baseline and differential
GenevisibleiP26374 HS

Organism-specific databases

HPAiHPA029627
HPA029628
HPA062967

Interactioni

Subunit structurei

Monomer. Heterotrimer composed of RABGGTA, RABGGTB and CHML; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHML (component A) mediates Rab protein binding. Interacts with RAB1A, RAB7A and RAB27A, but has much lower affinity for RAB1A, RAB7A and RAB27A than CHM.3 Publications

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107546, 28 interactors
IntActiP26374, 3 interactors
STRINGi9606.ENSP00000355511

Structurei

3D structure databases

ProteinModelPortaliP26374
SMRiP26374
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Rab GDI family.Curated

Phylogenomic databases

eggNOGiKOG4405 Eukaryota
COG5044 LUCA
GeneTreeiENSGT00530000063044
HOGENOMiHOG000231282
HOVERGENiHBG004961
InParanoidiP26374
OMAiINAKYFI
OrthoDBiEOG091G01LC
PhylomeDBiP26374
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

Sequencei

Sequence statusi: Complete.

P26374-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADNLPTEFD VVIIGTGLPE SILAAACSRS GQRVLHIDSR SYYGGNWASF
60 70 80 90 100
SFSGLLSWLK EYQQNNDIGE ESTVVWQDLI HETEEAITLR KKDETIQHTE
110 120 130 140 150
AFCYASQDME DNVEEIGALQ KNPSLGVSNT FTEVLDSALP EESQLSYFNS
160 170 180 190 200
DEMPAKHTQK SDTEISLEVT DVEESVEKEK YCGDKTCMHT VSDKDGDKDE
210 220 230 240 250
SKSTVEDKAD EPIRNRITYS QIVKEGRRFN IDLVSKLLYS QGLLIDLLIK
260 270 280 290 300
SDVSRYVEFK NVTRILAFRE GKVEQVPCSR ADVFNSKELT MVEKRMLMKF
310 320 330 340 350
LTFCLEYEQH PDEYQAFRQC SFSEYLKTKK LTPNLQHFVL HSIAMTSESS
360 370 380 390 400
CTTIDGLNAT KNFLQCLGRF GNTPFLFPLY GQGEIPQGFC RMCAVFGGIY
410 420 430 440 450
CLRHKVQCFV VDKESGRCKA IIDHFGQRIN AKYFIVEDSY LSEETCSNVQ
460 470 480 490 500
YKQISRAVLI TDQSILKTDL DQQTSILIVP PAEPGACAVR VTELCSSTMT
510 520 530 540 550
CMKDTYLVHL TCSSSKTARE DLESVVKKLF TPYTETEINE EELTKPRLLW
560 570 580 590 600
ALYFNMRDSS GISRSSYNGL PSNVYVCSGP DCGLGNEHAV KQAETLFQEI
610 620 630 640 650
FPTEEFCPPP PNPEDIIFDG DDKQPEAPGT NNVVMAKLES SEESKNLESP

EKHLQN
Length:656
Mass (Da):74,071
Last modified:May 10, 2004 - v2
Checksum:i478481966E30BE49
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti103C → P in CAA45979 (PubMed:1301160).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X64728 mRNA Translation: CAA45979.1
AF482426 Genomic DNA Translation: AAO15716.1
AK314125 mRNA Translation: BAG36816.1
AL133390 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW70100.1
BC117360 mRNA Translation: AAI17361.1
CCDSiCCDS31073.1
PIRiS23754 S38787
RefSeqiNP_001812.2, NM_001821.3
UniGeneiHs.654545

Genome annotation databases

EnsembliENST00000366553; ENSP00000355511; ENSG00000203668
GeneIDi1122
KEGGihsa:1122
UCSCiuc001hzd.4 human

Similar proteinsi

Entry informationi

Entry nameiRAE2_HUMAN
AccessioniPrimary (citable) accession number: P26374
Secondary accession number(s): B2RAB9, Q17RE0, Q9H1Y4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: May 10, 2004
Last modified: March 28, 2018
This is version 148 of the entry and version 2 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
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Main funding by: National Institutes of Health