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Q15915

- ZIC1_HUMAN

UniProt

Q15915 - ZIC1_HUMAN

Protein

Zinc finger protein ZIC 1

Gene

ZIC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 2 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri225 – 26036C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri269 – 29628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri302 – 32625C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri332 – 35625C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri362 – 38423C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. brain development Source: UniProtKB
    3. cell differentiation Source: UniProtKB-KW
    4. inner ear morphogenesis Source: UniProtKB
    5. pattern specification process Source: UniProtKB
    6. positive regulation of protein import into nucleus Source: UniProtKB
    7. positive regulation of transcription, DNA-templated Source: UniProtKB
    8. regulation of smoothened signaling pathway Source: UniProtKB
    9. spinal cord development Source: Ensembl
    10. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    SignaLinkiQ15915.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein ZIC 1
    Alternative name(s):
    Zinc finger protein 201
    Zinc finger protein of the cerebellum 1
    Gene namesi
    Name:ZIC1
    Synonyms:ZIC, ZNF201
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:12872. ZIC1.

    Subcellular locationi

    Nucleus. Cytoplasm By similarity
    Note: Localizes in the cytoplasm in presence of MDFIC overexpression.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti269212. Isolated Dandy-Walker malformation with hydrocephalus.
    269215. Isolated Dandy-Walker malformation without hydrocephalus.
    PharmGKBiPA37461.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 447447Zinc finger protein ZIC 1PRO_0000047244Add
    BLAST

    Proteomic databases

    PaxDbiQ15915.
    PRIDEiQ15915.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Gene expression databases

    BgeeiQ15915.
    CleanExiHS_ZIC1.
    GenevestigatoriQ15915.

    Organism-specific databases

    HPAiHPA004098.

    Interactioni

    Subunit structurei

    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.By similarity

    Protein-protein interaction databases

    BioGridi113377. 3 interactions.
    STRINGi9606.ENSP00000282928.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15915.
    SMRiQ15915. Positions 219-386.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi72 – 765Poly-Ala
    Compositional biasi79 – 824Poly-His
    Compositional biasi110 – 1167Poly-Ala
    Compositional biasi386 – 44055Ser-richAdd
    BLAST

    Domaini

    The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.By similarity

    Sequence similaritiesi

    Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri225 – 26036C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri269 – 29628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri302 – 32625C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri332 – 35625C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri362 – 38423C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000232057.
    HOVERGENiHBG007135.
    InParanoidiQ15915.
    KOiK09224.
    OMAiNMNMAAH.
    PhylomeDBiQ15915.
    TreeFamiTF351425.

    Family and domain databases

    Gene3Di3.30.160.60. 4 hits.
    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF00096. zf-C2H2. 1 hit.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 5 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15915-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLLDAGPQYP AIGVTTFGAS RHHSAGDVAE RDVGLGINPF ADGMGAFKLN    50
    PSSHELASAG QTAFTSQAPG YAAAAALGHH HHPGHVGSYS SAAFNSTRDF 100
    LFRNRGFGDA AAAASAQHSL FAASAGGFGG PHGHTDAAGH LLFPGLHEQA 150
    AGHASPNVVN GQMRLGFSGD MYPRPEQYGQ VTSPRSEHYA APQLHGYGPM 200
    NVNMAAHHGA GAFFRYMRQP IKQELICKWI EPEQLANPKK SCNKTFSTMH 250
    ELVTHVTVEH VGGPEQSNHI CFWEECPREG KPFKAKYKLV NHIRVHTGEK 300
    PFPCPFPGCG KVFARSENLK IHKRTHTGEK PFKCEFEGCD RRFANSSDRK 350
    KHMHVHTSDK PYLCKMCDKS YTHPSSLRKH MKVHESSSQG SQPSPAASSG 400
    YESSTPPTIV SPSTDNPTTS SLSPSSSAVH HTAGHSALSS NFNEWYV 447
    Length:447
    Mass (Da):48,309
    Last modified:October 14, 2008 - v2
    Checksum:i4DA3E32C99BF1AAE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti377 – 3771L → V in BAA11179. (PubMed:8542595)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D76435 mRNA. Translation: BAA11179.1.
    CH471052 Genomic DNA. Translation: EAW78915.1.
    BC104848 mRNA. Translation: AAI04849.1.
    BC104850 mRNA. Translation: AAI04851.1.
    CCDSiCCDS3136.1.
    RefSeqiNP_003403.2. NM_003412.3.
    UniGeneiHs.598590.
    Hs.647962.

    Genome annotation databases

    EnsembliENST00000282928; ENSP00000282928; ENSG00000152977.
    GeneIDi7545.
    KEGGihsa:7545.
    UCSCiuc003ewe.3. human.

    Polymorphism databases

    DMDMi209572702.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D76435 mRNA. Translation: BAA11179.1 .
    CH471052 Genomic DNA. Translation: EAW78915.1 .
    BC104848 mRNA. Translation: AAI04849.1 .
    BC104850 mRNA. Translation: AAI04851.1 .
    CCDSi CCDS3136.1.
    RefSeqi NP_003403.2. NM_003412.3.
    UniGenei Hs.598590.
    Hs.647962.

    3D structure databases

    ProteinModelPortali Q15915.
    SMRi Q15915. Positions 219-386.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113377. 3 interactions.
    STRINGi 9606.ENSP00000282928.

    Polymorphism databases

    DMDMi 209572702.

    Proteomic databases

    PaxDbi Q15915.
    PRIDEi Q15915.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282928 ; ENSP00000282928 ; ENSG00000152977 .
    GeneIDi 7545.
    KEGGi hsa:7545.
    UCSCi uc003ewe.3. human.

    Organism-specific databases

    CTDi 7545.
    GeneCardsi GC03P147111.
    HGNCi HGNC:12872. ZIC1.
    HPAi HPA004098.
    MIMi 600470. gene.
    neXtProti NX_Q15915.
    Orphaneti 269212. Isolated Dandy-Walker malformation with hydrocephalus.
    269215. Isolated Dandy-Walker malformation without hydrocephalus.
    PharmGKBi PA37461.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000232057.
    HOVERGENi HBG007135.
    InParanoidi Q15915.
    KOi K09224.
    OMAi NMNMAAH.
    PhylomeDBi Q15915.
    TreeFami TF351425.

    Enzyme and pathway databases

    SignaLinki Q15915.

    Miscellaneous databases

    GeneWikii ZIC1.
    GenomeRNAii 7545.
    NextBioi 29521.
    PROi Q15915.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q15915.
    CleanExi HS_ZIC1.
    Genevestigatori Q15915.

    Family and domain databases

    Gene3Di 3.30.160.60. 4 hits.
    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF00096. zf-C2H2. 1 hit.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 5 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Predominant expression of human zic in cerebellar granule cell lineage and medulloblastoma."
      Yokota N., Aruga J., Takai S., Yamada K., Hamazaki M., Iwase T., Sugimura H., Mikoshiba K.
      Cancer Res. 56:377-383(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Cerebellum.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Liver.

    Entry informationi

    Entry nameiZIC1_HUMAN
    AccessioniPrimary (citable) accession number: Q15915
    Secondary accession number(s): Q2M3N1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 127 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3