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P62633 of Proteins CCHC-type domain repeats
Uniprot ID:P62633
Protein name: Cellular nucleic acid-binding protein
Gene : CNBP RNF163 ZNF9
Protein Family:
Squence Length : 177
Sequnce
>P62633 178 MSSNECFKCGRSGHWARECPTGGGRGRGMRSRGRGGFTSDRGFQFVSSSLPDICYRCGESGHLAKDCDLQEDACYNCGRGGHIAKDCKEPKREREQCCYNCGKPGHLARDCDHADEQKCYSCGEFGHIQKDCTKVKCYRCGETGHVAINCSKTSEVNCYRCGESGHLARECTIEATA
CCHC-type domains repeats
ZN_FING 4 21 CCHC-type 1 ZN_FING 52 69 CCHC-type 2 ZN_FING 72 89 CCHC-type 3 ZN_FING 96 113 CCHC-type 4 ZN_FING 117 134 CCHC-type 5 ZN_FING 135 152 CCHC-type 6 ZN_FING 156 173 CCHC-type 7
Domin repeated regions
4 - 21 NECFKCGRSGHWARECPT 52 - 69 DICYRCGESGHLAKDCDL 72 - 89 DACYNCGRGGHIAKDCKE 96 - 113 QCCYNCGKPGHLARDCDH 117 - 134 QKCYSCGEFGHIQKDCTK 135 - 152 VKCYRCGETGHVAINCSK 156 - 173 VNCYRCGESGHLARECTI
Function
"Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression"
Mutation
25 25 R->K: Significantly reduces methylation when associated with K-27 27 27 R->K: Significantly reduces methylation when associated with K-25
Disease
"DISEASE: Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases Note=The disease is caused by mutations affecting the gene represented in this entry The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene"