CHM
entrez
1121
canonical
uniprot
P24386
canonical
ensembl
ENSG00000188419
resolver
ensp
ENSP00000350386
resolver
ensp
ENSP00000484306
resolver
genesymbol
CHM
resolver
genesymbol_syn
REP1
resolver
genesymbol_syn
TCD
resolver
hgnc
HGNC:1940
resolver
uniprot
A1L4D2
resolver
uniprot
A8K545
resolver
uniprot
B4DRL9
resolver
uniprot
O43732
resolver
uniprot_entry
A8K545_HUMAN
resolver
uniprot_entry
B4DRL9_HUMAN
resolver
uniprot_entry
RAE1_HUMAN
resolver
uniprot_sec
A1L4D2
resolver
uniprot_sec
O43732
resolver
amino_acid_sequence
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE
uniprot
proteins
disease_involvement
DISEASE: Choroideremia (CHM) [MIM:303100]: An 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. {ECO:0000269|PubMed:19427510, ECO:0000269|PubMed:21905166, ECO:0000269|PubMed:7951216}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:18532927, ECO:0000269|PubMed:7957092}.
uniprot
proteins
mass_dalton
73476
uniprot
proteins
mutagenesis
MUTAGEN 282; /note="F->L: Abolishes prenylation of RAB1A and association with RGGT."; /evidence="ECO:0000269|PubMed:18532927"; MUTAGEN 290; /note="V->F: Impairs prenylation of RAB1A and abolishes association with RGGT."; /evidence="ECO:0000269|PubMed:18532927
uniprot
proteins
protein_family
Rab GDI family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1549574
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1598901
uniprot
proteins
pubmed
18532927
uniprot
proteins
pubmed
1904992
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19427510
uniprot
proteins
pubmed
21905166
uniprot
proteins
pubmed
2215697
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26824392
uniprot
proteins
pubmed
29125462
uniprot
proteins
pubmed
7951216
uniprot
proteins
pubmed
7957092
uniprot
proteins
pubmed
7981670
uniprot
proteins
sequence_length
653
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:7957092}.
uniprot
proteins