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    FEZF1 FEZ family zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 389549, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FEZF1provided by HGNC
    Official Full Name
    FEZ family zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:22788
    See related
    Ensembl:ENSG00000128610 MIM:613301; AllianceGenome:HGNC:22788
    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
    FEZ; HH22; ZNF312B
    Summary
    This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward testis (RPKM 1.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See FEZF1 in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (122301303..122310723, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (123617261..123627513, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121941357..121944804, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724527 Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene ribosomal protein L31 pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:121924115-121924720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121951480-121951992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121951993-121952505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:121956930-121957784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:121955253-121955783 Neighboring gene VISTA enhancer hs1809 Neighboring gene FEZF1 antisense RNA 1 Neighboring gene calcium dependent secretion activator 2 Neighboring gene NANOG hESC enhancer GRCh37_chr7:122088873-122089630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:122167222-122167722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:122167723-122168223 Neighboring gene uncharacterized LOC105375481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:122319235-122319791 Neighboring gene ribosomal protein S26 pseudogene 31

    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. LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway. Zhang T, et al. Adv Clin Exp Med, 2021 Aug. PMID 34286520
    2. Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene. Song IS, et al. Cancer Res, 2009 Apr 1. PMID 19318583
    3. Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer. Song IS, et al. Int J Cancer, 2011 Nov 1. PMID 21170990
    4. Mutations in FEZF1 cause Kallmann syndrome. Kotan LD, et al. Am J Hum Genet, 2014 Sep 4. PMID 25192046, Free PMC Article
    5. Long noncoding RNA FEZF1-AS1 indicates a poor prognosis of gastric cancer and promotes tumorigenesis via activation of Wnt signaling pathway. Wu X, et al. Biomed Pharmacother, 2017 Dec. PMID 29239821

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway.
      Title: LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway.
    2. Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma.
      Title: Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma.
    3. Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer.
      Title: Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer.
    4. Mechanism of lncRNA FEZF1-AS1 in promoting the occurrence and development of oral squamous cell carcinoma through targeting miR-196a.
      Title: Mechanism of lncRNA FEZF1-AS1 in promoting the occurrence and development of oral squamous cell carcinoma through targeting miR-196a.
    5. provides clinical evidence that FEZF1-AS1 may be a possible biomarker of poor prognosis in Cervical Cancer.
      Title: Long non-coding RNA FEZF1-AS1 is up-regulated and associated with poor prognosis in patients with cervical cancer.
    6. Our findings suggested that dysregulation of FEZF1-AS1 contributed to the progression of lung adenocarcinoma (LAD), which might be a potential target for LAD therapy.
      Title: lncRNA FEZF1-AS1 Is Associated With Prognosis in Lung Adenocarcinoma and Promotes Cell Proliferation, Migration, and Invasion.
    7. FEZF1-AS1 regulated activation of JAK-STAT3 signaling pathway by modulating STAT3 phosphorylation. Knockdown of FEZF1-AS1 significantly impaired the phosphorylation of STAT3. Study demonstrated that FEZF1-AS1 exerted an oncogenic role in ovarian cancer via modulating JAK-STAT3 pathway.
      Title: Long Noncoding RNA FEZF1-AS1 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer by Activation of JAK-STAT3 Pathway.
    8. FEZF1 was significantly increased in glioma tissues. Over-expressed FIZF1 was associated with reduced survival.
      Title: Over-Expressed FEZF1 Predicts a Poor Prognosis in Glioma and Promotes Glioma Cell Malignant Biological Properties by Regulating Akt-ERK Pathway.
    9. loss of FEZF1 impairs the pluripotency exit of hESCs during neural specification, which partially explains the neural induction defect caused by FEZF1 deletion.
      Title: Function of FEZF1 during early neural differentiation of human embryonic stem cells.
    10. High expression of long noncoding RNA FEZF1 was significantly associated with later stage and higher grade of gastric cancer.
      Title: Long noncoding RNA FEZF1-AS1 indicates a poor prognosis of gastric cancer and promotes tumorigenesis via activation of Wnt signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell dedifferentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in forebrain anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interneuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol 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
    fez family zinc finger protein 1
    Names
    zinc finger protein 312B

    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.

    Genomic

    1. NG_041775.2 RefSeqGene

      Range
      10973..14420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024613.4 → NP_001019784.2  fez family zinc finger protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001019784.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC015983, AK300742, AY726588, HY206093
      Consensus CDS
      CCDS34741.2
      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98
      Related
      ENSP00000411145.2, ENST00000442488.7
      Conserved Domains (3) summary
      COG5048
      Location:287 → 421
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:262 → 282
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 420
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001160264.2 → NP_001153736.1  fez family zinc finger protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001153736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AY726588, BC127715, DC386457, HY206093
      Consensus CDS
      CCDS55157.1
      UniProtKB/Swiss-Prot
      A0PJY2
      Related
      ENSP00000392727.2, ENST00000427185.2
      Conserved Domains (4) summary
      COG5048
      Location:237 → 371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:212 → 232
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:352 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:255 → 277
      zf-H2C2_2; Zinc-finger double 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      122301303..122310723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516202.3 → XP_011514504.1  fez family zinc finger protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011514504.1

      UniProtKB/Swiss-Prot
      A0PJY2
      Conserved Domains (4) summary
      COG5048
      Location:237 → 371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:212 → 232
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:352 → 370
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:255 → 277
      zf-H2C2_2; Zinc-finger double domain

    2. XM_005250337.4 → XP_005250394.1  fez family zinc finger protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005250394.1

      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98
      Conserved Domains (3) summary
      COG5048
      Location:287 → 421
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:262 → 282
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 420
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      123617261..123627513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358188.1 → XP_054214163.1  fez family zinc finger protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0PJY2, A0PJY3, A4D0W3, B4DUP9, B7ZM98

    2. XM_054358189.1 → XP_054214164.1  fez family zinc finger protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0PJY2.1 GenPept UniProtKB/Swiss-Prot:A0PJY2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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