RBCC Red Blood Cell Collection

CNBP_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CNBP , RNF163, ZNF9
Protein names and data: CNBP_HUMAN , Cellular nucleic acid-binding protein; CNBP , Zinc finger protein 9 Lenght: 177 a.a.
Mass: 19463 Da
fasta formatted sequence
Function: Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.
Disease: ( OMIM: 116955 602668 ) 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.
Cellular location: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity).
Tissue specificity: Present in all tissues examined.

Database cross-references

UniProt: P62633
Ensembl: ENST00000422453
Ensembl: ENST00000441626
Ensembl: ENST00000446936
Ensembl: ENST00000451728
Ensembl: ENST00000502976
Ensembl: ENST00000504813
MIM: 116955
MIM: 602668
neXtProt: NX_P62633
Antibodypedia: P62633 (may not find the protein thus also not any antibody)
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