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GLIS3 GLIS family zinc finger 3 [ Homo sapiens (human) ]

Gene ID: 169792, updated on 7-Dec-2018

Summary

Official Symbol
GLIS3provided by HGNC
Official Full Name
GLIS family zinc finger 3provided by HGNC
Primary source
HGNC:HGNC:28510
See related
Ensembl:ENSG00000107249 MIM:610192
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NDH; ZNF515
Summary
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
Expression
Biased expression in thyroid (RPKM 8.8), gall bladder (RPKM 2.6) and 13 other tissues See more
Orthologs

Genomic context

See GLIS3 in Genome Data Viewer
Location:
9p24.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (3824127..4310694, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (3824128..4300036, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RFX3 antisense RNA 1 Neighboring gene uncharacterized LOC105375962 Neighboring gene GLIS3 antisense RNA 1 Neighboring gene uncharacterized LOC105375964 Neighboring gene GLIS3 intron CAGE-defined low expression enhancer Neighboring gene uncharacterized LOC107986989 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene solute carrier family 1 member 1 Neighboring gene spermatogenesis associated 6 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus, neonatal, with congenital hypothyroidism
MedGen: C1857775 OMIM: 610199 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
NHGRI GWA Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
NHGRI GWA Catalog
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38999, FLJ90578, MGC33662

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
zinc finger protein GLIS3
Names
GLI-similar 3
OK/KNS-cl.4
zinc finger protein 515

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011782.1 RefSeqGene

    Range
    5001..480908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042413.2NP_001035878.1  zinc finger protein GLIS3 isoform a

    See identical proteins and their annotated locations for NP_001035878.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA933816, AK075059, AL133283, AL137071, AL162419, BC033899, DQ438886
    Consensus CDS
    CCDS43784.1
    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    Q1PHJ8
    Related
    ENSP00000371398.3, ENST00000381971.7
    Conserved Domains (2) summary
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:583610
    zf-H2C2_2; Zinc-finger double domain
  2. NM_152629.3NP_689842.3  zinc finger protein GLIS3 isoform b

    See identical proteins and their annotated locations for NP_689842.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AA933816, AL133283, AL137071, BC033899
    Consensus CDS
    CCDS6451.1
    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z689
    Related
    ENSP00000325494.10, ENST00000324333.14
    Conserved Domains (2) summary
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:428455
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    3824127..4310694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517763.2XP_011516065.1  zinc finger protein GLIS3 isoform X1

    See identical proteins and their annotated locations for XP_011516065.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    Conserved Domains (2) summary
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:583610
    zf-H2C2_2; Zinc-finger double domain
  2. XM_005251388.4XP_005251445.1  zinc finger protein GLIS3 isoform X4

    See identical proteins and their annotated locations for XP_005251445.1

    Conserved Domains (2) summary
    sd00017
    Location:347369
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:361388
    zf-H2C2_2; Zinc-finger double domain
  3. XM_005251386.4XP_005251443.1  zinc finger protein GLIS3 isoform X3

    See identical proteins and their annotated locations for XP_005251443.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z689
    Conserved Domains (2) summary
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:428455
    zf-H2C2_2; Zinc-finger double domain
  4. XM_005251387.4XP_005251444.1  zinc finger protein GLIS3 isoform X4

    See identical proteins and their annotated locations for XP_005251444.1

    Conserved Domains (2) summary
    sd00017
    Location:347369
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:361388
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011517767.3XP_011516069.1  zinc finger protein GLIS3 isoform X4

    See identical proteins and their annotated locations for XP_011516069.1

    Conserved Domains (2) summary
    sd00017
    Location:347369
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:361388
    zf-H2C2_2; Zinc-finger double domain
  6. XM_011517764.2XP_011516066.1  zinc finger protein GLIS3 isoform X1

    See identical proteins and their annotated locations for XP_011516066.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    Conserved Domains (2) summary
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:583610
    zf-H2C2_2; Zinc-finger double domain
  7. XM_011517766.2XP_011516068.1  zinc finger protein GLIS3 isoform X3

    See identical proteins and their annotated locations for XP_011516068.1

    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z689
    Conserved Domains (2) summary
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:428455
    zf-H2C2_2; Zinc-finger double domain
  8. XM_017014361.1XP_016869850.1  zinc finger protein GLIS3 isoform X3

    UniProtKB/Swiss-Prot
    Q8NEA6
    UniProtKB/TrEMBL
    A0A0S2Z689
    Conserved Domains (2) summary
    sd00017
    Location:414436
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:428455
    zf-H2C2_2; Zinc-finger double domain
  9. XM_011517765.2XP_011516067.1  zinc finger protein GLIS3 isoform X2

    Conserved Domains (2) summary
    sd00017
    Location:569591
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:583610
    zf-H2C2_2; Zinc-finger double domain
  10. XM_005251389.5XP_005251446.1  zinc finger protein GLIS3 isoform X6

    Conserved Domains (1) summary
    sd00017
    Location:506525
    ZF_C2H2; C2H2 Zn finger [structural motif]
  11. XM_006716731.3XP_006716794.1  zinc finger protein GLIS3 isoform X7

    Conserved Domains (1) summary
    sd00017
    Location:506525
    ZF_C2H2; C2H2 Zn finger [structural motif]
  12. XM_011517769.2XP_011516071.1  zinc finger protein GLIS3 isoform X5

    Conserved Domains (1) summary
    sd00017
    Location:506525
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. XR_929206.2 RNA Sequence

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