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O60481

- ZIC3_HUMAN

UniProt

O60481 - ZIC3_HUMAN

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Protein
Zinc finger protein ZIC 3
Gene
ZIC3, ZNF203
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; atypical
Add
BLAST
Zinc fingeri295 – 32228C2H2-type 2; atypical
Add
BLAST
Zinc fingeri328 – 35225C2H2-type 3
Add
BLAST
Zinc fingeri358 – 38225C2H2-type 4
Add
BLAST
Zinc fingeri388 – 41023C2H2-type 5
Add
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 from RNA polymerase II promoter Source: UniProtKB
  11. positive regulation of transcription, DNA-templated Source: UniProtKB
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

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.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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. 3 Publications
VAR_025633
Natural varianti255 – 2551W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 2 Publications
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. 3 Publications
VAR_025634
Natural varianti323 – 3231T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
VAR_007753
Natural varianti405 – 4051K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171P → A in CHTD1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 3 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 3
PRO_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.2 Publications

Protein-protein interaction databases

BioGridi113379. 1 interaction.
STRINGi9606.ENSP00000287538.

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiO60481.

Family & Domainsi

Region

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi46 – 5510Poly-Ala
Compositional biasi87 – 9711Poly-His
Add
BLAST

Domaini

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

Sequence similaritiesi

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. 3 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. 3 Publications
VAR_025633
Natural varianti255 – 2551W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 2 Publications
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. 3 Publications
VAR_025634
Natural varianti323 – 3231T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
VAR_007753
Natural varianti405 – 4051K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 Publications
VAR_025635

Alternative sequence

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 138 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

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