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

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression.
Title: FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression.
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.
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.
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.
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.
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.
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).
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.
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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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	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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33748 (e-PCR)
- UniSTS:6730

G43640 (e-PCR)
- UniSTS:95068

D11S4449 (e-PCR)
- UniSTS:154729

D10S16 (e-PCR)
- UniSTS:155756

SHGC-32309 (e-PCR)
- UniSTS:17325

D11S3963E (e-PCR)
- UniSTS:153775

RH70489 (e-PCR)
- UniSTS:71643

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 axon	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation 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 cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation 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 membrane	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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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)

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
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

125442881..125496265 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

125471573..125524945 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

O00679, O00728, Q6IBI7, Q99689
XM_054370611.1 → XP_054226586.1 fasciculation and elongation protein zeta-1 isoform X1

UniProtKB/Swiss-Prot

O00679, O00728, Q6IBI7, Q99689