Gene/Proteome Database (LMPD)

LMPD ID
LMP002872
Gene ID
1121
Species
Homo sapiens (Human)
Gene Name
choroideremia (Rab escort protein 1)
Gene Symbol
CHM
Synonyms
DXS540; GGTA; HSD-32; REP-1; TCD
Alternate Names
rab proteins geranylgeranyltransferase component A 1
Chromosome
X
Map Location
Xq21.2
Summary
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Orthologs
View orthologs and multiple alignments for CHM

Proteins

rab proteins geranylgeranyltransferase component A 1 isoform a
Refseq ID NP_000381
Protein GI 9966761
UniProt ID P24386
mRNA ID NM_000390
Length 653
RefSeq Status REVIEWED
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE
rab proteins geranylgeranyltransferase component A 1 isoform b
Refseq ID NP_001138886
Protein GI 224028271
UniProt ID P24386
mRNA ID NM_001145414
Length 110
RefSeq Status REVIEWED
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYARSTLLL

Gene Information

Entrez Gene ID
1121
Gene Name
choroideremia (Rab escort protein 1)
Gene Symbol
CHM
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005968 IDA:UniProtKB C Rab-protein geranylgeranyltransferase complex
GO:0005829 IMP:UniProtKB C cytosol
GO:0005096 IEA:UniProtKB-KW F GTPase activator activity
GO:0017137 IDA:UniProtKB F Rab GTPase binding
GO:0004663 TAS:ProtInc F Rab geranylgeranyltransferase activity
GO:0001568 IEA:Ensembl P blood vessel development
GO:0018344 IDA:UniProtKB P protein geranylgeranylation
GO:0006612 IMP:UniProtKB P protein targeting to membrane
GO:0050896 IEA:UniProtKB-KW P response to stimulus
GO:0007601 TAS:ProtInc P visual perception

Domain Information

InterPro Annotations

Accession Description
IPR018203 GDP_dissociation_inhibitor
IPR001738 Rab escort (choroideraemia) protein
IPR016664 Rab protein geranylgeranyltransferase component A, eukaryota

UniProt Annotations

Entry Information

Gene Name
choroideremia (Rab escort protein 1)
Protein Entry
RAE1_HUMAN
UniProt ID
P24386
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P24386-1; Sequence=Displayed; Name=2; IsoId=P24386-2; Sequence=VSP_042817, VSP_042818; Note=No experimental confirmation available.;
Disease Choroideremia (CHM) [MIM
Function 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.
Similarity Belongs to the Rab GDI family.
Subcellular Location Cytoplasm, cytosol .
Subunit 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
Web Resource Name=Mutations of the REP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/repmut.htm";
Web Resource Name=NGRL, Manchester LOVD choroideremia (Rab escort protein 1) (CHM); Note=Leiden Open Variation Database (LOVD); URL="http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=CHM";
Web Resource Name=Retinal and hearing impairment genetic mutation database choroideremia (Rab escort protein 1) (CHM); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CHM";

Identical and Related Proteins

Unique RefSeq proteins for LMP002872 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
9966761 RefSeq NP_000381 653 rab proteins geranylgeranyltransferase component A 1 isoform a
224028271 RefSeq NP_001138886 110 rab proteins geranylgeranyltransferase component A 1 isoform b

Identical Sequences to LMP002872 proteins

Reference Database Accession Length Protein Name
GI:9966761 EMBL CAD33401.1 653 unnamed protein product [Homo sapiens]
GI:9966761 EMBL CAV30743.1 653 unnamed protein product [Homo sapiens]
GI:9966761 GenBank EAW98559.1 653 choroideremia (Rab escort protein 1) [Homo sapiens]
GI:224028271 GenBank AAI30495.1 110 CHM protein [Homo sapiens]
GI:224028271 GenBank AAI30497.1 110 CHM protein [Homo sapiens]
GI:9966761 GenBank AAI56458.1 653 Choroideremia (Rab escort protein 1), partial [synthetic construct]
GI:9966761 GenBank AAI72532.1 653 Choroideremia (Rab escort protein 1) [synthetic construct]
GI:9966761 SwissProt P24386.3 653 RecName: Full=Rab proteins geranylgeranyltransferase component A 1; AltName: Full=Choroideremia protein; AltName: Full=Rab escort protein 1; Short=REP-1; AltName: Full=TCD protein [Homo sapiens]

Related Sequences to LMP002872 proteins

Reference Database Accession Length Protein Name
GI:9966761 DBBJ BAF83849.1 653 unnamed protein product [Homo sapiens]
GI:224028271 EMBL CAA55011.1 653 choroidermia, Rab geranylgeranyltransferase component A (REP-1) [Homo sapiens]
GI:224028271 EMBL CAV30743.1 653 unnamed protein product [Homo sapiens]
GI:224028271 GenBank EAW98559.1 653 choroideremia (Rab escort protein 1) [Homo sapiens]
GI:224028271 GenBank AAI56458.1 653 Choroideremia (Rab escort protein 1), partial [synthetic construct]
GI:9966761 GenBank ACM81756.1 661 Sequence 7254 from patent US 6812339
GI:9966761 GenBank JAA07847.1 653 choroideremia (Rab escort protein 1) [Pan troglodytes]
GI:9966761 GenBank JAA07848.1 653 choroideremia (Rab escort protein 1) [Pan troglodytes]
GI:9966761 GenBank JAA07849.1 653 choroideremia (Rab escort protein 1) [Pan troglodytes]
GI:224028271 RefSeq NP_000381.1 653 rab proteins geranylgeranyltransferase component A 1 isoform a [Homo sapiens]
GI:9966761 RefSeq XP_003824489.1 653 PREDICTED: rab proteins geranylgeranyltransferase component A 1 [Pan paniscus]
GI:224028271 SwissProt P24386.3 653 RecName: Full=Rab proteins geranylgeranyltransferase component A 1; AltName: Full=Choroideremia protein; AltName: Full=Rab escort protein 1; Short=REP-1; AltName: Full=TCD protein [Homo sapiens]