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Q8NEA6 (GLIS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein GLIS3
Alternative name(s):
GLI-similar 3
Zinc finger protein 515
Gene names
Name:GLIS3
Synonyms:ZNF515
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length775 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Nucleus By similarity.

Tissue specificity

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. Ref.4

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.5

Sequence similarities

Belongs to the GLI C2H2-type zinc-finger protein family.

Contains 5 C2H2-type zinc fingers.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NEA6-1)

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.
Isoform 2 (identifier: Q8NEA6-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 775775Zinc finger protein GLIS3
PRO_0000047211

Regions

Zinc finger345 – 37026C2H2-type 1
Zinc finger379 – 40628C2H2-type 2; atypical
Zinc finger412 – 43625C2H2-type 3
Zinc finger442 – 46625C2H2-type 4
Zinc finger472 – 49625C2H2-type 5
Motif491 – 50717Bipartite nuclear localization signal Potential
Compositional bias41 – 154114Ser-rich
Compositional bias289 – 30618Pro-rich

Natural variations

Alternative sequence11M → MNGRSCSMSLHRTSGTPQGP RMVSGHHIPAIRAHSGTPGP SPCGSTSSPTMASLANNLHL KMPSGGGMAPQNNVAESRIH LPALSPRRQMLTNGKPRFQV TQAGGMSGSHTLKPKQQEFG SPFPPNPGKGALGFGPQCKS IGKGSCNNLVVTSSPM in isoform 2.
VSP_038299
Natural variant2691S → P. Ref.2
Corresponds to variant rs806052 [ dbSNP | Ensembl ].
VAR_047148
Natural variant3011P → Q. Ref.2
Corresponds to variant rs6415788 [ dbSNP | Ensembl ].
VAR_031062
Natural variant5781P → L.
Corresponds to variant rs10973986 [ dbSNP | Ensembl ].
VAR_047149

Experimental info

Sequence conflict3471C → Y in AAH33899. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 8, 2011. Version 5.
Checksum: 1C8519AFCDF6C813

FASTA77583,636
        10         20         30         40         50         60 
MMVQRLGLIS PPASQVSTAC NQISPSLQRA MNAANLNIPP SDTRSLISRE SLASTTLSLT 

        70         80         90        100        110        120 
ESQSASSMKQ EWSQGYRALP SLSNHGSQNG LDLGDLLSLP PGTSMSSNSV SNSLPSYLFG 

       130        140        150        160        170        180 
TESSHSPYPS PRHSSTRSHS ARSKKRALSL SPLSDGIGID FNTIIRTSPT SLVAYINGSR 

       190        200        210        220        230        240 
ASPANLSPQP EVYGHFLGVR GSCIPQPRPV PGSQKGVLVA PGGLALPAYG EDGALEHERM 

       250        260        270        280        290        300 
QQLEHGGLQP GLVNHMVVQH GLPGPDSQSA GLFKTERLEE FPGSTVDLPP APPLPPLPPP 

       310        320        330        340        350        360 
PGPPPPYHAH AHLHHPELGP HAQQLALPQA TLDDDGEMDG IGGKHCCRWI DCSALYDQQE 

       370        380        390        400        410        420 
ELVRHIEKVH IDQRKGEDFT CFWAGCPRRY KPFNARYKLL IHMRVHSGEK PNKCTFEGCE 

       430        440        450        460        470        480 
KAFSRLENLK IHLRSHTGEK PYLCQHPGCQ KAFSNSSDRA KHQRTHLDTK PYACQIPGCT 

       490        500        510        520        530        540 
KRYTDPSSLR KHVKAHSSKE QQARKKLRSS TELHPDLLTD CLTVQSLQPA TSPRDAAAEG 

       550        560        570        580        590        600 
TVGRSPGPGP DLYSAPIFSS NYSSRSGTAA GAVPPPHPVS HPSPGHNVQG SPHNPSSQLP 

       610        620        630        640        650        660 
PLTAVDAGAE RFAPSAPSPH HISPRRVPAP SSILQRTQPP YTQQPSGSHL KSYQPETNSS 

       670        680        690        700        710        720 
FQPNGIHVHG FYGQLQKFCP PHYPDSQRIV PPVSSCSVVP SFEDCLVPTS MGQASFDVFH 

       730        740        750        760        770 
RAFSTHSGIT VYDLPSSSSS LFGESLRSGA EDATFLQIST VDRCPSQLSS VYTEG 

« Hide

Isoform 2 [UniParc].

Checksum: B31E78045EB5C953
Show »

FASTA93099,605

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Novel GLIS3 mutations demonstrate an extended multisystem phenotype."
Dimitri P., Warner J.T., Minton J.A., Patch A.M., Ellard S., Hattersley A.T., Barr S., Hawkes D., Wales J.K., Gregory J.W.
Eur. J. Endocrinol. 164:437-443(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NDH.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS43784.1. [Q8NEA6-2]
CCDS6451.1. [Q8NEA6-1]
RefSeqNP_001035878.1. NM_001042413.1. [Q8NEA6-2]
NP_689842.3. NM_152629.3. [Q8NEA6-1]
XP_005251443.1. XM_005251386.2. [Q8NEA6-1]
UniGeneHs.162125.

3D structure databases

ProteinModelPortalQ8NEA6.
SMRQ8NEA6. Positions 347-530.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127988. 2 interactions.
IntActQ8NEA6. 2 interactions.
STRING9606.ENSP00000371398.

PTM databases

PhosphoSiteQ8NEA6.

Polymorphism databases

DMDM322510143.

Proteomic databases

MaxQBQ8NEA6.
PaxDbQ8NEA6.
PRIDEQ8NEA6.

Protocols and materials databases

DNASU169792.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324333; ENSP00000325494; ENSG00000107249. [Q8NEA6-1]
ENST00000381971; ENSP00000371398; ENSG00000107249. [Q8NEA6-2]
GeneID169792.
KEGGhsa:169792.
UCSCuc003zhw.1. human. [Q8NEA6-1]
uc003zhx.1. human. [Q8NEA6-2]

Organism-specific databases

CTD169792.
GeneCardsGC09M003816.
HGNCHGNC:28510. GLIS3.
HPAHPA056426.
MIM610192. gene.
610199. phenotype.
neXtProtNX_Q8NEA6.
Orphanet79118. Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys.
PharmGKBPA134878768.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000231136.
HOVERGENHBG107950.
InParanoidQ8NEA6.
KOK09232.
OMAGSHTLKP.
OrthoDBEOG7TF78B.
PhylomeDBQ8NEA6.
TreeFamTF350216.

Gene expression databases

ArrayExpressQ8NEA6.
BgeeQ8NEA6.
CleanExHS_GLIS3.
GenevestigatorQ8NEA6.

Family and domain databases

Gene3D3.30.160.60. 5 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi169792.
NextBio88833.
PROQ8NEA6.
SOURCESearch...

Entry information

Entry nameGLIS3_HUMAN
AccessionPrimary (citable) accession number: Q8NEA6
Secondary accession number(s): B1AL19, Q1PHK5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: February 8, 2011
Last modified: July 9, 2014
This is version 103 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM