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O60481

- ZIC3_HUMAN

UniProt

O60481 - ZIC3_HUMAN

Protein

Zinc finger protein ZIC 3

Gene

ZIC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri251 – 28636C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri295 – 32228C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri328 – 35225C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri358 – 38225C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri388 – 41023C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. cell differentiation Source: UniProtKB-KW
    3. determination of digestive tract left/right asymmetry Source: BHF-UCL
    4. determination of left/right asymmetry in nervous system Source: Ensembl
    5. determination of left/right symmetry Source: BHF-UCL
    6. determination of liver left/right asymmetry Source: BHF-UCL
    7. determination of pancreatic left/right asymmetry Source: BHF-UCL
    8. heart looping Source: BHF-UCL
    9. lung development Source: BHF-UCL
    10. positive regulation of transcription, DNA-templated Source: UniProtKB
    11. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    12. 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

    ReactomeiREACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.
    SignaLinkiO60481.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein ZIC 3
    Alternative name(s):
    Zinc finger protein 203
    Zinc finger protein of the cerebellum 3
    Gene namesi
    Name:ZIC3
    Synonyms:ZNF203
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:12874. ZIC3.

    Subcellular locationi

    Nucleus. Cytoplasm By similarity
    Note: Localizes in the cytoplasm in presence of MDFIC overexpression By similarity. Translocation to the nucleus requires KPNA1 or KPNA6.By similarity

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti253 – 2531C → S in HTX1; increases strongly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025633
    Natural varianti255 – 2551W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 1 Publication
    VAR_042416
    Natural varianti286 – 2861H → R in HTX1; inreases weakly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025634
    Natural varianti323 – 3231T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_007753
    Natural varianti405 – 4051K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025635
    VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]: A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461A → AAA in VACTERLX. 1 Publication
    VAR_066626
    Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti217 – 2171P → A in CHTD1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
    VAR_025632

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi268 – 2681C → S: Increases weakly its cytoplasmic localization. 1 Publication
    Mutagenesisi281 – 2811H → R: Increases its cytoplasmic localization. 1 Publication
    Mutagenesisi304 – 3041R → M: Increases its cytoplasmic localization. 1 Publication
    Mutagenesisi307 – 3071K → M: Increases its cytoplasmic localization. 1 Publication
    Mutagenesisi310 – 3101K → M: Increases its cytoplasmic localization. 1 Publication
    Mutagenesisi312 – 3121K → M: Increases its cytoplasmic localization. 1 Publication
    Mutagenesisi314 – 3141K → M: Does not increase its cytoplasmic localization. 1 Publication
    Mutagenesisi320 – 3201R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-337; A-341; A-346; A-349 and A-350. 1 Publication
    Mutagenesisi326 – 3261K → M: Does not increase its cytoplasmic localization. 1 Publication
    Mutagenesisi337 – 3371K → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-341; A-346; A-349 and A-350. 1 Publication
    Mutagenesisi341 – 3411R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-346; A-349 and A-350. 1 Publication
    Mutagenesisi346 – 3461K → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-349 and A-350. 1 Publication
    Mutagenesisi349 – 3491K → A: Increases its cytoplasmic localization. Does not interacts with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-346 and A-350. 1 Publication
    Mutagenesisi350 – 3501R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-346 and A-349. 1 Publication
    Mutagenesisi356 – 3561K → A: Does not increase its cytoplasmic localization. 1 Publication

    Keywords - Diseasei

    Disease mutation, Heterotaxy

    Organism-specific databases

    MIMi306955. phenotype.
    314390. phenotype.
    Orphaneti3426. Double outlet right ventricle.
    216718. Isolated congenitally uncorrected transposition of the great arteries.
    157769. Situs ambiguus.
    PharmGKBiPA37463.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 467467Zinc finger protein ZIC 3PRO_0000047250Add
    BLAST

    Proteomic databases

    PaxDbiO60481.
    PRIDEiO60481.

    Expressioni

    Gene expression databases

    BgeeiO60481.
    CleanExiHS_ZIC3.
    GenevestigatoriO60481.

    Organism-specific databases

    HPAiHPA052936.

    Interactioni

    Subunit structurei

    Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity By similarity. Interacts with KPNA1 and KPNA6. Interacts (via C2H2-type domains 3, 4 and 5) with GLI3; the interaction enhances its transcriptional activity.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi113379. 1 interaction.
    STRINGi9606.ENSP00000287538.

    Structurei

    Secondary structure

    1
    467
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi261 – 2644
    Beta strandi272 – 2743
    Helixi275 – 28410
    Turni285 – 2873
    Helixi312 – 32312
    Beta strandi327 – 3293
    Turni333 – 3353
    Beta strandi338 – 3403
    Helixi342 – 3498
    Turni350 – 3523
    Beta strandi369 – 3713
    Helixi372 – 3776
    Turni380 – 3834

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2EJ4NMR-A245-326[»]
    2RPCNMR-A245-386[»]
    ProteinModelPortaliO60481.
    SMRiO60481. Positions 245-412.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO60481.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni297 – 32226Nuclear localization signalAdd
    BLAST
    Regioni330 – 35223Nuclear localization signalAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi46 – 5510Poly-Ala
    Compositional biasi87 – 9711Poly-HisAdd
    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 fingeri251 – 28636C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri295 – 32228C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri328 – 35225C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri358 – 38225C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri388 – 41023C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000232057.
    HOVERGENiHBG007135.
    InParanoidiO60481.
    KOiK09224.
    OMAiKKTCDRT.
    OrthoDBiEOG76472R.
    PhylomeDBiO60481.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60481-1) [UniParc]FASTAAdd to Basket

    Also known as: ZIC3-A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTMLLDGGPQ FPGLGVGSFG APRHHEMPNR EPAGMGLNPF GDSTHAAAAA    50
    AAAAAFKLSP AAAHDLSSGQ SSAFTPQGSG YANALGHHHH HHHHHHHTSQ 100
    VPSYGGAASA AFNSTREFLF RQRSSGLSEA ASGGGQHGLF AGSASSLHAP 150
    AGIPEPPSYL LFPGLHEQGA GHPSPTGHVD NNQVHLGLRG ELFGRADPYR 200
    PVASPRTDPY AAGAQFPNYS PMNMNMGVNV AAHHGPGAFF RYMRQPIKQE 250
    LSCKWIDEAQ LSRPKKSCDR TFSTMHELVT HVTMEHVGGP EQNNHVCYWE 300
    ECPREGKSFK AKYKLVNHIR VHTGEKPFPC PFPGCGKIFA RSENLKIHKR 350
    THTGEKPFKC EFEGCDRRFA NSSDRKKHMH VHTSDKPYIC KVCDKSYTHP 400
    SSLRKHMKVH ESQGSDSSPA ASSGYESSTP PAIASANSKD TTKTPSAVQT 450
    STSHNPGLPP NFNEWYV 467
    Length:467
    Mass (Da):50,569
    Last modified:August 1, 1998 - v1
    Checksum:i3150CF13C0679568
    GO
    Isoform 2 (identifier: O60481-2) [UniParc]FASTAAdd to Basket

    Also known as: ZIC3-B

    The sequence of this isoform differs from the canonical sequence as follows:
         409-467: VHESQGSDSS...LPPNFNEWYV → CCPAWYPGQS...AEPTVQEMIY

    Show »
    Length:457
    Mass (Da):50,045
    Checksum:i28FFD09D87CC2AF5
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti46 – 461A → AAA in VACTERLX. 1 Publication
    VAR_066626
    Natural varianti217 – 2171P → A in CHTD1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
    VAR_025632
    Natural varianti253 – 2531C → S in HTX1; increases strongly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025633
    Natural varianti255 – 2551W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 1 Publication
    VAR_042416
    Natural varianti286 – 2861H → R in HTX1; inreases weakly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025634
    Natural varianti323 – 3231T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_007753
    Natural varianti405 – 4051K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 1 Publication
    VAR_025635

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei409 – 46759VHESQ…NEWYV → CCPAWYPGQSLIPDEELDTD VGMQQPALHNTTYPKCRVNA EPTVQEMIY in isoform 2. CuratedVSP_044010Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF028706 mRNA. Translation: AAC05594.1.
    EU532020 mRNA. Translation: ACB30403.1.
    AL035443 Genomic DNA. Translation: CAB41648.1.
    AL035443 Genomic DNA. Translation: CAI42303.1.
    BC113393 mRNA. Translation: AAI13394.1.
    BC113395 mRNA. Translation: AAI13396.1.
    CCDSiCCDS14663.1. [O60481-1]
    RefSeqiNP_003404.1. NM_003413.3. [O60481-1]
    UniGeneiHs.111227.

    Genome annotation databases

    EnsembliENST00000287538; ENSP00000287538; ENSG00000156925. [O60481-1]
    ENST00000370606; ENSP00000359638; ENSG00000156925. [O60481-2]
    GeneIDi7547.
    KEGGihsa:7547.
    UCSCiuc004fak.3. human. [O60481-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF028706 mRNA. Translation: AAC05594.1 .
    EU532020 mRNA. Translation: ACB30403.1 .
    AL035443 Genomic DNA. Translation: CAB41648.1 .
    AL035443 Genomic DNA. Translation: CAI42303.1 .
    BC113393 mRNA. Translation: AAI13394.1 .
    BC113395 mRNA. Translation: AAI13396.1 .
    CCDSi CCDS14663.1. [O60481-1 ]
    RefSeqi NP_003404.1. NM_003413.3. [O60481-1 ]
    UniGenei Hs.111227.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2EJ4 NMR - A 245-326 [» ]
    2RPC NMR - A 245-386 [» ]
    ProteinModelPortali O60481.
    SMRi O60481. Positions 245-412.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113379. 1 interaction.
    STRINGi 9606.ENSP00000287538.

    Proteomic databases

    PaxDbi O60481.
    PRIDEi O60481.

    Protocols and materials databases

    DNASUi 7547.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000287538 ; ENSP00000287538 ; ENSG00000156925 . [O60481-1 ]
    ENST00000370606 ; ENSP00000359638 ; ENSG00000156925 . [O60481-2 ]
    GeneIDi 7547.
    KEGGi hsa:7547.
    UCSCi uc004fak.3. human. [O60481-1 ]

    Organism-specific databases

    CTDi 7547.
    GeneCardsi GC0XP136648.
    HGNCi HGNC:12874. ZIC3.
    HPAi HPA052936.
    MIMi 300265. gene.
    306955. phenotype.
    314390. phenotype.
    neXtProti NX_O60481.
    Orphaneti 3426. Double outlet right ventricle.
    216718. Isolated congenitally uncorrected transposition of the great arteries.
    157769. Situs ambiguus.
    PharmGKBi PA37463.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000232057.
    HOVERGENi HBG007135.
    InParanoidi O60481.
    KOi K09224.
    OMAi KKTCDRT.
    OrthoDBi EOG76472R.
    PhylomeDBi O60481.
    TreeFami TF351425.

    Enzyme and pathway databases

    Reactomei REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.
    SignaLinki O60481.

    Miscellaneous databases

    EvolutionaryTracei O60481.
    GeneWikii ZIC3.
    GenomeRNAii 7547.
    NextBioi 29529.
    PROi O60481.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60481.
    CleanExi HS_ZIC3.
    Genevestigatori O60481.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HTX1 ARG-286 AND MET-323.
    2. "Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment."
      Salichs E., Ledda A., Mularoni L., Alba M.M., de la Luna S.
      PLoS Genet. 5:E1000397-E1000397(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: Brain.
    5. "Characterization of the interactions of human ZIC3 mutants with GLI3."
      Zhu L., Zhou G., Poole S., Belmont J.W.
      Hum. Mutat. 29:99-105(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH GLI3, DNA-BINDING, CHARACTERIZATION OF VARIANTS HTX1 SER-253; ARG-286; MET-323 AND GLU-405, CHARACTERIZATION OF VARIANT CHTD1 ALA-217.
    6. "Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease."
      Bedard J.E., Haaning A.M., Ware S.M.
      PLoS ONE 6:E23755-E23755(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2).
    7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain."
      Hatayama M., Tomizawa T., Sakai-Kato K., Bouvagnet P., Kose S., Imamoto N., Yokoyama S., Utsunomiya-Tate N., Mikoshiba K., Kigawa T., Aruga J.
      Hum. Mol. Genet. 17:3459-3473(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 246-329 IN COMPLEX WITH ZINC IONS, INTERACTION WITH KPNA1 AND KPNA6, CHARACTERIZATION OF VARIANTS HTX1 SER-253; GLY-255 AND ARG-286, MUTAGENESIS OF CYS-268; HIS-281; ARG-304; LYS-307; LYS-310; LYS-312; LYS-314; ARG-320; LYS-326; LYS-337; ARG-341; LYS-346; LYS-349; ARG-350 AND LYS-356.
    9. "Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects."
      Ware S.M., Peng J., Zhu L., Fernbach S., Colicos S., Casey B., Towbin J., Belmont J.W.
      Am. J. Hum. Genet. 74:93-105(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHTD1 ALA-217, VARIANTS HTX1 SER-253 AND GLU-405.
    10. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-217.
    11. "Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain."
      Chhin B., Hatayama M., Bozon D., Ogawa M., Schoen P., Tohmonda T., Sassolas F., Aruga J., Valard A.-G., Chen S.-C., Bouvagnet P.
      Hum. Mutat. 28:563-570(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTX1 GLY-255, CHARACTERIZATION OF VARIANT HTX1 GLY-255.
    12. "Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?"
      Wessels M.W., Kuchinka B., Heydanus R., Smit B.J., Dooijes D., de Krijger R.R., Lequin M.H., de Jong E.M., Husen M., Willems P.J., Casey B.
      J. Med. Genet. 47:351-355(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VACTERLX ALA-ALA-46 INS.

    Entry informationi

    Entry nameiZIC3_HUMAN
    AccessioniPrimary (citable) accession number: O60481
    Secondary accession number(s): B2CNW4, Q14DE5, Q5JY75
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 139 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3