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GZF1 GDNF inducible zinc finger protein 1 [ Homo sapiens (human) ]

Gene ID: 64412, updated on 2-Nov-2024

Summary

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Official Symbol
GZF1provided by HGNC
Official Full Name
GDNF inducible zinc finger protein 1provided by HGNC
Primary source
HGNC:HGNC:15808
See related
Ensembl:ENSG00000125812 MIM:613842; AllianceGenome:HGNC:15808
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JLSM; ZBTB23; ZNF336
Summary
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 10.9), bone marrow (RPKM 10.5) and 25 other tissues See more
Orthologs
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Genomic context

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See GZF1 in Genome Data Viewer
Location:
20p11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23361127..23373062)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23420667..23432602)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23342819..23353699)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NXT1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr20:23330429-23331301 and GRCh37_chr20:23331302-23332173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12728 Neighboring gene long intergenic non-protein coding RNA 1431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17637 Neighboring gene nuclear transport factor 2 like export factor 1 Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene NSF attachment protein beta Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23372358-23372897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23406421-23407128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23423063-23423642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12732 Neighboring gene cystatin like 1 Neighboring gene cystatin 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. Zeng L, et al. Clin Genet, 2021 Feb. PMID 33009817
  2. Analysis of glial cell line-derived neurotrophic factor-inducible zinc finger protein 1 expression in human diseased kidney. Saito S, et al. Hum Pathol, 2011 Jun. PMID 21292309
  3. GDNF-inducible zinc finger protein 1 is a sequence-specific transcriptional repressor that binds to the HOXA10 gene regulatory region. Morinaga T, et al. Nucleic Acids Res, 2005. PMID 16049025, Free PMC Article
  4. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. Patel N, et al. Am J Hum Genet, 2017 May 4. PMID 28475863, Free PMC Article
  5. Nucleolin modulates the subcellular localization of GDNF-inducible zinc finger protein 1 and its roles in transcription and cell proliferation. Dambara A, et al. Exp Cell Res, 2007 Oct 15. PMID 17674968

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.
    Title: Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.
  2. We report an autosomal-recessive Larsen syndrome that is most likely caused by GZF1 mutations.
    Title: GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
  3. These findings suggest that GZF1 represents a new marker for renal proximal tubules.
    Title: Analysis of glial cell line-derived neurotrophic factor-inducible zinc finger protein 1 expression in human diseased kidney.
  4. The repressive activity of GZF1 is modulated by the level at which nucleolin is expressed.
    Title: Nucleolin modulates the subcellular localization of GDNF-inducible zinc finger protein 1 and its roles in transcription and cell proliferation.
  5. induction of GZF1 expression via the is required for renal branching morphogenesis
    Title: Identification of a novel glial cell line-derived neurotrophic factor-inducible gene required for renal branching morphogenesis.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Joint laxity, short stature, and myopia
MedGen: C4540020 OMIM: 617662 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
GDNF-inducible zinc finger protein 1
Names
zinc finger and BTB domain-containing protein 23
zinc finger protein 336

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001317012.2 → NP_001303941.1  GDNF-inducible zinc finger protein 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA062926, AK025447, AK056477, AK289814, AL096677, BM975844, DA229844
    Consensus CDS
    CCDS13151.1
    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

  2. NM_001317019.1 → NP_001303948.1  GDNF-inducible zinc finger protein 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and a distinct 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK056477, AL096677, BC154409, BM975844
    UniProtKB/Swiss-Prot
    Q9H116
    Conserved Domains (6) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:517 → 677
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 540
    zf-C2H2_8; C2H2-type zinc ribbon

  3. NM_022482.5 → NP_071927.1  GDNF-inducible zinc finger protein 1 isoform a

    See identical proteins and their annotated locations for NP_071927.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AA062926, AK025447, AK056159, AK056477, AL096677, BM975844
    Consensus CDS
    CCDS13151.1
    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Related
    ENSP00000338290.5, ENST00000338121.10
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    23361127..23373062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440376.1 → XP_047296332.1  GDNF-inducible zinc finger protein 1 isoform X2

  2. XM_011529321.4 → XP_011527623.1  GDNF-inducible zinc finger protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011527623.1

    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

  3. XM_011529322.3 → XP_011527624.1  GDNF-inducible zinc finger protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011527624.1

    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Related
    ENSP00000366250.2, ENST00000377051.2
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

  4. XM_017028018.3 → XP_016883507.1  GDNF-inducible zinc finger protein 1 isoform X2

    Conserved Domains (6) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:517 → 677
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 540
    zf-C2H2_8; C2H2-type zinc ribbon

  5. XM_017028019.3 → XP_016883508.1  GDNF-inducible zinc finger protein 1 isoform X3

    Conserved Domains (5) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 543
    zf-C2H2_8; C2H2-type zinc ribbon

  6. XM_024451968.2 → XP_024307736.1  GDNF-inducible zinc finger protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

  7. XM_047440375.1 → XP_047296331.1  GDNF-inducible zinc finger protein 1 isoform X2

  8. XM_024451969.2 → XP_024307737.1  GDNF-inducible zinc finger protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K199, B2RBC3, B3KPL4, B4DF58, D3DW39, Q54A22, Q96N08, Q9BQK9, Q9H116, Q9H117, Q9H6W6
    Conserved Domains (3) summary
    COG5048
    Location:405 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 133
    BTB; BTB/POZ domain

  9. XM_017028017.3 → XP_016883506.1  GDNF-inducible zinc finger protein 1 isoform X2

    Conserved Domains (6) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:517 → 677
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 540
    zf-C2H2_8; C2H2-type zinc ribbon

  10. XM_005260800.4 → XP_005260857.1  GDNF-inducible zinc finger protein 1 isoform X2

    Conserved Domains (6) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:517 → 677
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 540
    zf-C2H2_8; C2H2-type zinc ribbon

  11. XM_005260802.5 → XP_005260859.1  GDNF-inducible zinc finger protein 1 isoform X3

    Conserved Domains (5) summary
    smart00225
    Location:32 → 133
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00017
    Location:409 → 429
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:21 → 125
    BTB; BTB/POZ domain
    pfam13465
    Location:449 → 474
    zf-H2C2_2; Zinc-finger double domain
    pfam15909
    Location:437 → 543
    zf-C2H2_8; C2H2-type zinc ribbon

  12. XM_047440378.1 → XP_047296334.1  GDNF-inducible zinc finger protein 1 isoform X4

  13. XM_047440377.1 → XP_047296333.1  GDNF-inducible zinc finger protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23420667..23432602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323854.1 → XP_054179829.1  GDNF-inducible zinc finger protein 1 isoform X2

  2. XM_054323848.1 → XP_054179823.1  GDNF-inducible zinc finger protein 1 isoform X1

  3. XM_054323858.1 → XP_054179833.1  GDNF-inducible zinc finger protein 1 isoform X3

  4. XM_054323850.1 → XP_054179825.1  GDNF-inducible zinc finger protein 1 isoform X1

  5. XM_054323855.1 → XP_054179830.1  GDNF-inducible zinc finger protein 1 isoform X2

  6. XM_054323851.1 → XP_054179826.1  GDNF-inducible zinc finger protein 1 isoform X2

  7. XM_054323856.1 → XP_054179831.1  GDNF-inducible zinc finger protein 1 isoform X3

  8. XM_054323859.1 → XP_054179834.1  GDNF-inducible zinc finger protein 1 isoform X4

  9. XM_054323853.1 → XP_054179828.1  GDNF-inducible zinc finger protein 1 isoform X2

  10. XM_054323852.1 → XP_054179827.1  GDNF-inducible zinc finger protein 1 isoform X2

  11. XM_054323849.1 → XP_054179824.1  GDNF-inducible zinc finger protein 1 isoform X1

  12. XM_054323847.1 → XP_054179822.1  GDNF-inducible zinc finger protein 1 isoform X1

  13. XM_054323857.1 → XP_054179832.1  GDNF-inducible zinc finger protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H116.1 GenPept UniProtKB/Swiss-Prot:Q9H116

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