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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
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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)

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

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