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    FEZ1 fasciculation and elongation protein zeta 1 [ Homo sapiens (human) ]

    Gene ID: 9638, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FEZ1provided by HGNC
    Official Full Name
    fasciculation and elongation protein zeta 1provided by HGNC
    Primary source
    HGNC:HGNC:3659
    See related
    Ensembl:ENSG00000149557 MIM:604825; AllianceGenome:HGNC:3659
    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
    UNC-76
    Summary
    This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 74.3), urinary bladder (RPKM 9.7) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FEZ1 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125442881..125496265, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125471573..125524945, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125312777..125366161, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PBX/knotted 1 homeobox 2 Neighboring gene PKNOX2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 321, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125181994-125182578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125211245-125211994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125219321-125219863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125220519-125221182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125221183-125221844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125239164-125240045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125241808-125242687 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125296399-125296900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125298605-125299508 Neighboring gene Sharpr-MPRA regulatory region 8813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125314964-125315827 Neighboring gene Sharpr-MPRA regulatory region 13231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:125364213-125364716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365219-125365722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365723-125366224 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907 Neighboring gene Sharpr-MPRA regulatory region 4861 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125439037-125439538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5698 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125462019-125462613 Neighboring gene EI24 autophagy associated transmembrane protein Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit A

    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. FEZ1 Plays Dual Roles in Early HIV-1 Infection by Independently Regulating Capsid Transport and Host Interferon-Stimulated Gene Expression. Malikov V, et al. J Virol, 2023 Jun 29. PMID 37219433, Free PMC Article
    2. Association analysis of FEZ1 variants with schizophrenia in Japanese cohorts. Yamada K, et al. Biol Psychiatry, 2004 Nov 1. PMID 15522253
    3. Failure to confirm the association between the FEZ1 gene and schizophrenia in a Japanese population. Koga M, et al. Neurosci Lett, 2007 May 7. PMID 17374448
    4. Over-expression of GFP-FEZ1 causes generation of multi-lobulated nuclei mediated by microtubules in HEK293 cells. Lanza DC, et al. Exp Cell Res, 2008 Jun 10. PMID 18439996
    5. Human FEZ1 has characteristics of a natively unfolded protein and dimerizes in solution. Lanza DC, et al. Proteins, 2009 Jan. PMID 18615714

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FEZ1 Plays Dual Roles in Early HIV-1 Infection by Independently Regulating Capsid Transport and Host Interferon-Stimulated Gene Expression.
      Title: FEZ1 Plays Dual Roles in Early HIV-1 Infection by Independently Regulating Capsid Transport and Host Interferon-Stimulated Gene Expression.
    2. FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression.
      Title: FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression.
    3. Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.
      Title: Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.
    4. FEZ1 Is Recruited to a Conserved Cofactor Site on Capsid to Promote HIV-1 Trafficking.
      Title: FEZ1 Is Recruited to a Conserved Cofactor Site on Capsid to Promote HIV-1 Trafficking.
    5. Diagnosis of numerous cancers has been closely linked to the expression of certain long non-coding RNAs. This study aimed to evaluate levels of plasma FEZ family zinc finger 1 antisense RNA 1 (FEZF1-AS1) relative to non-small-cell lung carcinoma (NSCLC) diagnosis.
      Title: Plasma lncRNA FEZF1-AS1 as a potential biomarker for diagnosis of non-small-cell lung carcinoma.
    6. FEZ1 promotes HIV-1 infection in non-neuronal cells via direct binding to the capsid and kinesin-1 to move the virus into the cell nucleus.
      Title: HIV-1 capsids bind and exploit the kinesin-1 adaptor FEZ1 for inward movement to the nucleus.
    7. SCOC forms a stable homogeneous complex with the coiled coil domain of FEZ1. SCOC dimerization and the SCOC surface residue R117 are important for this interaction.
      Title: Crystal structure of the human short coiled coil protein and insights into SCOC-FEZ1 complex formation.
    8. Studies indicate that FEZ1 (fasciculation and elongation protein zeta 1), SCOCO (short coiled-coil protein) and kinesins (kinesin heavy chain) are involved in biological transport process.
      Title: Structural analysis of intermolecular interactions in the kinesin adaptor complex fasciculation and elongation protein zeta 1/ short coiled-coil protein (FEZ1/SCOCO).
    9. Short Disrupted-in-Schizophrenia (DISC)1 splice variants show reduced or no binding to NDEL1 and phosphodiesterase (PDE)4B proteins but fully interact with FEZ1 and GSK3beta.
      Title: Interactions of human truncated DISC1 proteins: implications for schizophrenia.
    10. FEZ1 operates as a kinesin adaptor for the transport of Stx, with cargo loading and unloading being regulated by protein kinases.
      Title: Phosphorylation-regulated axonal dependent transport of syntaxin 1 is mediated by a Kinesin-1 adapter.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    RNAi-mediated FEZ1 depletion inhibits early infection, with virus particles exhibiting bi-directional motility but no net movement to the nucleus PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus PubMed
    gag HIV-1 CA binds to FEZ1 to facilitate the core complex for inward movement to the nucleus PubMed

    Go to the HIV-1, Human Interaction Database

    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 gamma-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon guidance TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of mitochondrion localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of anterograde axonal transport of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fasciculation and elongation protein zeta-1
    Names
    zygin I
    zygin-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_005103.5 → NP_005094.1  fasciculation and elongation protein zeta-1 isoform 1

      See identical proteins and their annotated locations for NP_005094.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the full-length isoform (1), which has a longer C-terminal end compared to isoform 2.
      Source sequence(s)
      AP000708, BC009545, BM663785, DA697171
      Consensus CDS
      CCDS31716.1
      UniProtKB/Swiss-Prot
      O00679, O00728, Q6IBI7, Q99689
      Related
      ENSP00000278919.3, ENST00000278919.8
      Conserved Domains (1) summary
      pfam07763
      Location:58 → 297
      FEZ; FEZ-like protein

    2. NM_022549.4 → NP_072043.1  fasciculation and elongation protein zeta-1 isoform 2

      See identical proteins and their annotated locations for NP_072043.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes a protein isoform (2) that is truncated at the C-terminal end compared to isoform 1.
      Source sequence(s)
      AP000708, CN310685, DA697171, U60062
      Consensus CDS
      CCDS44758.1
      UniProtKB/Swiss-Prot
      Q99689
      Related
      ENSP00000393425.2, ENST00000366139.3
      Conserved Domains (1) summary
      pfam07763
      Location:58 → 92
      FEZ; FEZ-like protein

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125442881..125496265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271735.3 → XP_005271792.1  fasciculation and elongation protein zeta-1 isoform X1

      See identical proteins and their annotated locations for XP_005271792.1

      UniProtKB/Swiss-Prot
      O00679, O00728, Q6IBI7, Q99689
      Conserved Domains (1) summary
      pfam07763
      Location:58 → 297
      FEZ; FEZ-like protein

    2. XM_005271734.3 → XP_005271791.1  fasciculation and elongation protein zeta-1 isoform X1

      See identical proteins and their annotated locations for XP_005271791.1

      UniProtKB/Swiss-Prot
      O00679, O00728, Q6IBI7, Q99689
      Conserved Domains (1) summary
      pfam07763
      Location:58 → 297
      FEZ; FEZ-like protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125471573..125524945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370612.1 → XP_054226587.1  fasciculation and elongation protein zeta-1 isoform X1

      UniProtKB/Swiss-Prot
      O00679, O00728, Q6IBI7, Q99689

    2. XM_054370611.1 → XP_054226586.1  fasciculation and elongation protein zeta-1 isoform X1

      UniProtKB/Swiss-Prot
      O00679, O00728, Q6IBI7, Q99689
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99689.1 GenPept UniProtKB/Swiss-Prot:Q99689

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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