Rab proteins geranylgeranyltransferase component A 1 Recombinant Protein | CHM recombinant protein

Recombinant Human Rab proteins geranylgeranyltransferase component A 1

Cat. Num. AAA958917

• Gene Names: CHM; TCD; GGTA; REP-1; DXS540; HSD-32
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Rab proteins geranylgeranyltransferase component A 1; Recombinant Human Rab proteins geranylgeranyltransferase component A 1; Choroideremia protein; Rab escort protein 1; REP-1; TCD protein; CHM recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-653aa; Full Length
• Sequence: MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE

• Species: Homo sapiens (Human)
• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for CHM recombinant protein

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.

Product Categories/Family for CHM recombinant protein

Neuroscience

References

"Cloning and characterization of the human choroideremia gene." van Bokhoven H., van den Hurk J.A., Bogerd L., Philippe C., Gilgenkrantz S., de Jong P., Ropers H.-H., Cremers F.P. Hum. Mol. Genet. 3:1041-1046(1994)

NCBI and Uniprot Product Information

• NCBI GI #: 9966761
• NCBI GeneID: 1121
• NCBI Accession #: NP_000381.1
• NCBI GenBank Nucleotide #: NM_000390.2
• UniProt Accession #: P24386; O43732; A1L4D2
• Molecular Weight: 77.5 kDa
• NCBI Official Full Name: rab proteins geranylgeranyltransferase component A 1 isoform a
• NCBI Official Synonym Full Names: choroideremia (Rab escort protein 1)
• NCBI Official Symbol: CHM
• NCBI Official Synonym Symbols: TCD; GGTA; REP-1; DXS540; HSD-32
• NCBI Protein Information: rab proteins geranylgeranyltransferase component A 1
• UniProt Protein Name: Rab proteins geranylgeranyltransferase component A 1
• Protein Family: Rab proteins geranylgeranyltransferase component
• UniProt Gene Name: CHM
• UniProt Synonym Gene Names: REP1; TCD; REP-1
• UniProt Entry Name: RAE1_HUMAN

NCBI Description

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]

Uniprot Description

CHM: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, 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. Also 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. Defects in CHM are the cause of choroideremia (CHM). 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. Belongs to the Rab GDI family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase

Chromosomal Location of Human Ortholog: Xq21.2

Cellular Component: cytosol; Rab-protein geranylgeranyltransferase complex

Molecular Function: GTPase activator activity; oxidoreductase activity; Rab GTPase binding; Rab-protein geranylgeranyltransferase activity

Biological Process: blood vessel development; positive regulation of GTPase activity; protein geranylgeranylation; protein targeting to membrane; response to stimulus; visual perception

Disease: Choroideremia