InnateDB Protein
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IDBP-751611.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ZNF423
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Protein Name
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Synonyms
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Ebfaz; JBTS19; NPHP14; OAZ; Roaz; Zfp104; ZFP423;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000455426
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InnateDB Gene
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IDBG-30289 (ZNF423)
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Protein Structure
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Function |
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation. {ECO:0000269PubMed:10660046}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:10660046}.
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Disease Associations |
Nephronophthisis 14 (NPHP14) [MIM:614844]: An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 19 (JBTS19) [MIM:614844]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. {ECO:0000269PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum. {ECO:0000269PubMed:10660046}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
Q2M1K9
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PhosphoSite |
PhosphoSite-Q2M1K9
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TrEMBL |
F5H7S1
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UniProt Splice Variant |
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Entrez Gene |
23090
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UniGene |
Hs.617541
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RefSeq |
XP_005255913
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HUGO |
HGNC:16762
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OMIM |
604557
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CCDS |
CCDS32445
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HPRD |
05189
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IMGT |
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EMBL |
AB018303
AC007339
AC007603
AC007607
AC007861
AC027348
AF221712
AK027479
BC112315
BC112317
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GenPept |
AAF28354
AAI12316
AAI12318
BAA34480
BAG51329
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