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

    Gene ID: 64412, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.9), bone marrow (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    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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