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P49585 Proteins with OtherRepeats Repeats

Uniprot ID: P49585	Protein name : Choline-phosphate cytidylyltransferase A	Gene : PCYT1A CTPCT PCYT1
Protein Families : Cytidylyltransferase family	Squence Length : 367

Sequence	>P49585 368 MDAQCSAKVNARKRRKEAPGPNGATEEDGVPSKVQRCAVGLRQPAPFSDEIEVDFSKPYVRVTMEEASRGTPCERPVRVYADGIFDLFHSGHARALMQAKNLFPNTYLIVGVCSDELTHNFKGFTVMNENERYDAVQHCRYVDEVVRNAPWTLTPEFLAEHRIDFVAHDDIPYSSAGSDDVYKHIKEAGMFAPTQRTEGISTSDIITRIVRDYDVYARRNLQRGYTAKELNVSFINEKKYHLQERVDKVKKKVKDVEEKSKEFVQKVEEKSIDLIQKWEEKSREFIGSFLEMFGPEGALKHMLKEGKGRMLQAISPKQSPSSSPTRERSPSPSFRWPFSGKTSPPCSPANLSRHKAAAYDISEDEED
Repeat regions	REPEAT 319 324 1 REPEAT 329 333 2 approximate REPEAT 343 348 3
Sequence region of repeats	319- 324 SSSPTR 329- 333 SPSFR - D 343- 348 PCSPAN
Function	Controls phosphatidylcholine synthesis
Binding Site	BINDING 122 122 CTP. BINDING 122 122 Substrate. BINDING 151 151 Substrate. BINDING 173 173 CTP
Nucleotide Binding	NP_BIND 84 92 CTP. NP_BIND 168 169 CTP. NP_BIND 196 200 CTP
Mutation	37 37 C->S: Abolishes formation of the interchain disulfide that can be observed when the enzyme is treated with copper phenanthrolene (in vitro)
Disease	"DISEASE: Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]: A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction Note=The disease is caused by mutations affecting the gene represented in this entry"