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Q8NEA6

- GLIS3_HUMAN

UniProt

Q8NEA6 - GLIS3_HUMAN

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Protein

Zinc finger protein GLIS3

Gene

GLIS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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. metal ion binding Source: UniProtKB-KW
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8NEA6.
CleanExiHS_GLIS3.
ExpressionAtlasiQ8NEA6. baseline and differential.
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.
GeneTreeiENSGT00760000118771.
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

        10         20         30         40         50
MMVQRLGLIS PPASQVSTAC NQISPSLQRA MNAANLNIPP SDTRSLISRE
60 70 80 90 100
SLASTTLSLT ESQSASSMKQ EWSQGYRALP SLSNHGSQNG LDLGDLLSLP
110 120 130 140 150
PGTSMSSNSV SNSLPSYLFG TESSHSPYPS PRHSSTRSHS ARSKKRALSL
160 170 180 190 200
SPLSDGIGID FNTIIRTSPT SLVAYINGSR ASPANLSPQP EVYGHFLGVR
210 220 230 240 250
GSCIPQPRPV PGSQKGVLVA PGGLALPAYG EDGALEHERM QQLEHGGLQP
260 270 280 290 300
GLVNHMVVQH GLPGPDSQSA GLFKTERLEE FPGSTVDLPP APPLPPLPPP
310 320 330 340 350
PGPPPPYHAH AHLHHPELGP HAQQLALPQA TLDDDGEMDG IGGKHCCRWI
360 370 380 390 400
DCSALYDQQE ELVRHIEKVH IDQRKGEDFT CFWAGCPRRY KPFNARYKLL
410 420 430 440 450
IHMRVHSGEK PNKCTFEGCE KAFSRLENLK IHLRSHTGEK PYLCQHPGCQ
460 470 480 490 500
KAFSNSSDRA KHQRTHLDTK PYACQIPGCT KRYTDPSSLR KHVKAHSSKE
510 520 530 540 550
QQARKKLRSS TELHPDLLTD CLTVQSLQPA TSPRDAAAEG TVGRSPGPGP
560 570 580 590 600
DLYSAPIFSS NYSSRSGTAA GAVPPPHPVS HPSPGHNVQG SPHNPSSQLP
610 620 630 640 650
PLTAVDAGAE RFAPSAPSPH HISPRRVPAP SSILQRTQPP YTQQPSGSHL
660 670 680 690 700
KSYQPETNSS FQPNGIHVHG FYGQLQKFCP PHYPDSQRIV PPVSSCSVVP
710 720 730 740 750
SFEDCLVPTS MGQASFDVFH RAFSTHSGIT VYDLPSSSSS LFGESLRSGA
760 770
EDATFLQIST VDRCPSQLSS VYTEG
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.
GeneTreei ENSGT00760000118771.
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

Bgeei Q8NEA6.
CleanExi HS_GLIS3.
ExpressionAtlasi Q8NEA6. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 105 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