checksum
4DA3E32C99BF1AAE
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FUNCTION Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity).SUBUNIT Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5). Interacts with GLI1; the interaction enhances transcription activation. Interacts with GLI2. Interacts with GLI3; the interaction enhances transcription activation (By similarity).INTERACTION Localizes in the cytoplasm in presence of MDFIC overexpression.TISSUE SPECIFICITY CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other tumors examined.DOMAIN The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the GLI C2H2-type zinc-finger protein family.
databaseName
UniProt
dbId
68156
description
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recommendedName: Zinc finger protein ZIC 1 alternativeName: Zinc finger protein 201 alternativeName: Zinc finger protein of the cerebellum 1
displayName
UniProt:Q15915 ZIC1
identifier
Q15915
isSequenceChanged
false
keyword
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Activator
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Craniosynostosis
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Cytoplasm
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Developmental protein
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Differentiation
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Disease variant
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DNA-binding
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Intellectual disability
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Metal-binding
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Neurogenesis
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Nucleus
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Proteomics identification
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Reference proteome
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Repeat
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Transcription
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Transcription regulation
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Zinc
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Zinc-finger
moleculeType
Protein
otherIdentifier
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11731331_at
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11731332_at
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206373_PM_at
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206373_at
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236896_PM_at
-
236896_at
-
241440_PM_at
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241440_at
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2646819
-
2646824
-
2646825
-
2646826
-
2646829
-
2646833
-
2646834
-
2646835
-
2646836
-
2646837
-
2646838
-
2646839
-
2646840
-
2646847
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2646850
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2646851
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36308_at
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47852_r_at
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7545
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80089_at
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8083233
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A_23_P367618
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A_32_P86067
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A_33_P3384362
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D76435_at
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GE530932
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GE577453
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GO:0000976
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GO:0000977
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GO:0000978
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GO:0000981
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GO:0001228
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GO:0003677
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GO:0003700
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GO:0005515
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GO:0005634
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GO:0005654
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GO:0005737
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GO:0006355
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GO:0006357
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GO:0007389
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GO:0007399
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GO:0007417
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GO:0007420
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GO:0007628
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GO:0008270
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GO:0008589
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GO:0010467
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GO:0021510
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GO:0021766
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GO:0021772
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GO:0030154
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GO:0030900
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GO:0042307
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GO:0042472
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GO:0045893
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GO:0045944
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GO:0046872
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GO:0048856
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GO:0098727
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GO:1990837
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HMNXSV003026746
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HMNXSV003048509
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HMNXSV003051371
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Hs.146067.0.A1_3p_at
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Hs.7177.0.A1_3p_at
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ILMN_1745684
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ILMN_1774005
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PH_hs_0003068
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PH_hs_0008698
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TC03002582.hg
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g4507970_3p_at
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p22163
schemaClass
ReferenceGeneProduct
sequenceLength
447
stId
uniprot:Q15915