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Q8NEA6

- GLIS3_HUMAN

UniProt

Q8NEA6 - GLIS3_HUMAN

Protein

Zinc finger protein GLIS3

Gene

GLIS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 5 (08 Feb 2011)
      Previous versions | rss
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    Functioni

    Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri345 – 37026C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri379 – 40628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri412 – 43625C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri442 – 46625C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri472 – 49625C2H2-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: Ensembl

    GO - Biological processi

    1. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    2. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    3. transcription from RNA polymerase II promoter Source: UniProtKB

    Keywords - Molecular functioni

    Activator, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein GLIS3
    Alternative name(s):
    GLI-similar 3
    Zinc finger protein 515
    Gene namesi
    Name:GLIS3
    Synonyms:ZNF515
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:28510. GLIS3.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. Golgi apparatus Source: HPA
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Congenital hypothyroidism

    Organism-specific databases

    MIMi610199. phenotype.
    Orphaneti79118. Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys.
    PharmGKBiPA134878768.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 775775Zinc finger protein GLIS3PRO_0000047211Add
    BLAST

    Proteomic databases

    MaxQBiQ8NEA6.
    PaxDbiQ8NEA6.
    PRIDEiQ8NEA6.

    PTM databases

    PhosphoSiteiQ8NEA6.

    Expressioni

    Tissue specificityi

    In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary.1 Publication

    Gene expression databases

    ArrayExpressiQ8NEA6.
    BgeeiQ8NEA6.
    CleanExiHS_GLIS3.
    GenevestigatoriQ8NEA6.

    Organism-specific databases

    HPAiHPA056426.

    Interactioni

    Protein-protein interaction databases

    BioGridi127988. 2 interactions.
    IntActiQ8NEA6. 2 interactions.
    STRINGi9606.ENSP00000371398.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEA6.
    SMRiQ8NEA6. Positions 347-530.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi491 – 50717Bipartite nuclear localization signalSequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi41 – 154114Ser-richAdd
    BLAST
    Compositional biasi289 – 30618Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri345 – 37026C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri379 – 40628C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri412 – 43625C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri442 – 46625C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri472 – 49625C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000231136.
    HOVERGENiHBG107950.
    InParanoidiQ8NEA6.
    KOiK09232.
    OMAiGSHTLKP.
    OrthoDBiEOG7TF78B.
    PhylomeDBiQ8NEA6.
    TreeFamiTF350216.

    Family and domain databases

    Gene3Di3.30.160.60. 5 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. 4 hits.
    PS50157. ZINC_FINGER_C2H2_2. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEA6-1) [UniParc]FASTAAdd to Basket

    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

    MMVQRLGLIS PPASQVSTAC NQISPSLQRA MNAANLNIPP SDTRSLISRE    50
    SLASTTLSLT ESQSASSMKQ EWSQGYRALP SLSNHGSQNG LDLGDLLSLP 100
    PGTSMSSNSV SNSLPSYLFG TESSHSPYPS PRHSSTRSHS ARSKKRALSL 150
    SPLSDGIGID FNTIIRTSPT SLVAYINGSR ASPANLSPQP EVYGHFLGVR 200
    GSCIPQPRPV PGSQKGVLVA PGGLALPAYG EDGALEHERM QQLEHGGLQP 250
    GLVNHMVVQH GLPGPDSQSA GLFKTERLEE FPGSTVDLPP APPLPPLPPP 300
    PGPPPPYHAH AHLHHPELGP HAQQLALPQA TLDDDGEMDG IGGKHCCRWI 350
    DCSALYDQQE ELVRHIEKVH IDQRKGEDFT CFWAGCPRRY KPFNARYKLL 400
    IHMRVHSGEK PNKCTFEGCE KAFSRLENLK IHLRSHTGEK PYLCQHPGCQ 450
    KAFSNSSDRA KHQRTHLDTK PYACQIPGCT KRYTDPSSLR KHVKAHSSKE 500
    QQARKKLRSS TELHPDLLTD CLTVQSLQPA TSPRDAAAEG TVGRSPGPGP 550
    DLYSAPIFSS NYSSRSGTAA GAVPPPHPVS HPSPGHNVQG SPHNPSSQLP 600
    PLTAVDAGAE RFAPSAPSPH HISPRRVPAP SSILQRTQPP YTQQPSGSHL 650
    KSYQPETNSS FQPNGIHVHG FYGQLQKFCP PHYPDSQRIV PPVSSCSVVP 700
    SFEDCLVPTS MGQASFDVFH RAFSTHSGIT VYDLPSSSSS LFGESLRSGA 750
    EDATFLQIST VDRCPSQLSS VYTEG 775
    Length:775
    Mass (Da):83,636
    Last modified:February 8, 2011 - v5
    Checksum:i1C8519AFCDF6C813
    GO
    Isoform 2 (identifier: Q8NEA6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MNGRSCSMSL...NNLVVTSSPM

    Show »
    Length:930
    Mass (Da):99,605
    Checksum:iB31E78045EB5C953
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti347 – 3471C → Y in AAH33899. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti269 – 2691S → P.1 Publication
    Corresponds to variant rs806052 [ dbSNP | Ensembl ].
    VAR_047148
    Natural varianti301 – 3011P → Q.1 Publication
    Corresponds to variant rs6415788 [ dbSNP | Ensembl ].
    VAR_031062
    Natural varianti578 – 5781P → L.
    Corresponds to variant rs10973986 [ dbSNP | Ensembl ].
    VAR_047149

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2. CuratedVSP_038299

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL158012, AL133283, AL137071 Genomic DNA. Translation: CAH70655.1.
    AL133283, AL137071, AL158012 Genomic DNA. Translation: CAH72449.1.
    AL137071, AL133283, AL158012 Genomic DNA. Translation: CAI39818.1.
    BC033899 mRNA. Translation: AAH33899.2.
    DQ438877 mRNA. Translation: ABE66434.1.
    CCDSiCCDS43784.1. [Q8NEA6-2]
    CCDS6451.1. [Q8NEA6-1]
    RefSeqiNP_001035878.1. NM_001042413.1. [Q8NEA6-2]
    NP_689842.3. NM_152629.3. [Q8NEA6-1]
    XP_005251443.1. XM_005251386.2. [Q8NEA6-1]
    UniGeneiHs.162125.

    Genome annotation databases

    EnsembliENST00000324333; ENSP00000325494; ENSG00000107249. [Q8NEA6-1]
    ENST00000381971; ENSP00000371398; ENSG00000107249. [Q8NEA6-2]
    GeneIDi169792.
    KEGGihsa:169792.
    UCSCiuc003zhw.1. human. [Q8NEA6-1]
    uc003zhx.1. human. [Q8NEA6-2]

    Polymorphism databases

    DMDMi322510143.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL158012 , AL133283 , AL137071 Genomic DNA. Translation: CAH70655.1 .
    AL133283 , AL137071 , AL158012 Genomic DNA. Translation: CAH72449.1 .
    AL137071 , AL133283 , AL158012 Genomic DNA. Translation: CAI39818.1 .
    BC033899 mRNA. Translation: AAH33899.2 .
    DQ438877 mRNA. Translation: ABE66434.1 .
    CCDSi CCDS43784.1. [Q8NEA6-2 ]
    CCDS6451.1. [Q8NEA6-1 ]
    RefSeqi NP_001035878.1. NM_001042413.1. [Q8NEA6-2 ]
    NP_689842.3. NM_152629.3. [Q8NEA6-1 ]
    XP_005251443.1. XM_005251386.2. [Q8NEA6-1 ]
    UniGenei Hs.162125.

    3D structure databases

    ProteinModelPortali Q8NEA6.
    SMRi Q8NEA6. Positions 347-530.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127988. 2 interactions.
    IntActi Q8NEA6. 2 interactions.
    STRINGi 9606.ENSP00000371398.

    PTM databases

    PhosphoSitei Q8NEA6.

    Polymorphism databases

    DMDMi 322510143.

    Proteomic databases

    MaxQBi Q8NEA6.
    PaxDbi Q8NEA6.
    PRIDEi Q8NEA6.

    Protocols and materials databases

    DNASUi 169792.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324333 ; ENSP00000325494 ; ENSG00000107249 . [Q8NEA6-1 ]
    ENST00000381971 ; ENSP00000371398 ; ENSG00000107249 . [Q8NEA6-2 ]
    GeneIDi 169792.
    KEGGi hsa:169792.
    UCSCi uc003zhw.1. human. [Q8NEA6-1 ]
    uc003zhx.1. human. [Q8NEA6-2 ]

    Organism-specific databases

    CTDi 169792.
    GeneCardsi GC09M003816.
    HGNCi HGNC:28510. GLIS3.
    HPAi HPA056426.
    MIMi 610192. gene.
    610199. phenotype.
    neXtProti NX_Q8NEA6.
    Orphaneti 79118. Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys.
    PharmGKBi PA134878768.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000231136.
    HOVERGENi HBG107950.
    InParanoidi Q8NEA6.
    KOi K09232.
    OMAi GSHTLKP.
    OrthoDBi EOG7TF78B.
    PhylomeDBi Q8NEA6.
    TreeFami TF350216.

    Miscellaneous databases

    GenomeRNAii 169792.
    NextBioi 88833.
    PROi Q8NEA6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NEA6.
    Bgeei Q8NEA6.
    CleanExi HS_GLIS3.
    Genevestigatori Q8NEA6.

    Family and domain databases

    Gene3Di 3.30.160.60. 5 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. 4 hits.
    PS50157. ZINC_FINGER_C2H2_2. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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), VARIANTS PRO-269 AND GLN-301.
      Tissue: Testis.
    3. "Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism."
      Senee V., Chelala C., Duchatelet S., Feng D., Blanc H., Cossec J.-C., Charon C., Nicolino M., Boileau P., Cavener D.R., Bougneres P., Taha D., Julier C.
      Nat. Genet. 38:682-687(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN NDH.
    4. "GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions."
      Kim Y.-S., Nakanishi G., Lewandoski M., Jetten A.M.
      Nucleic Acids Res. 31:5513-5525(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. Cited for: INVOLVEMENT IN NDH.

    Entry informationi

    Entry nameiGLIS3_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEA6
    Secondary accession number(s): B1AL19, Q1PHK5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: February 8, 2011
    Last modified: October 1, 2014
    This is version 104 of the entry and version 5 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 9
      Human chromosome 9: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3