YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta [Homo sapiens (human)] - Gene

Summary

Official Symbol: YWHAZprovided by HGNC
Official Full Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zetaprovided by HGNC
Primary source: HGNC:HGNC:12855
See related: Ensembl:ENSG00000164924 MIM:601288; AllianceGenome:HGNC:12855
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: HEL4; YWHAD; KCIP-1; HEL-S-3; POPCHAS; HEL-S-93; 14-3-3-zeta
Summary: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]
Expression: Ubiquitous expression in esophagus (RPKM 248.0), brain (RPKM 160.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (100916523..100953382, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (102042222..102079082, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (101928751..101965610, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Deregulated 14-3-3zeta and methionine adenosyltransferase alpha1 interplay promotes liver cancer tumorigenesis in mice and humans.
Title: Deregulated 14-3-3ζ and methionine adenosyltransferase α1 interplay promotes liver cancer tumorigenesis in mice and humans.
Structural Features and Physiological Associations of Human 14-3-3zeta Pseudogenes.
Title: Structural Features and Physiological Associations of Human 14-3-3ζ Pseudogenes.
14-3-3 interaction with phosphodiesterase 8A sustains PKA signaling and downregulates the MAPK pathway.
Title: 14-3-3 interaction with phosphodiesterase 8A sustains PKA signaling and downregulates the MAPK pathway.
TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target.
Title: TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target.
CSF 14-3-3 zeta(zeta) isoform is associated with tau pathology and cognitive decline in Alzheimer's disease.
Title: CSF 14-3-3 zeta(ζ) isoform is associated with tau pathology and cognitive decline in Alzheimer's disease.
High-throughput functional screen identifies YWHAZ as a key regulator of pancreatic cancer metastasis.
Title: High-throughput functional screen identifies YWHAZ as a key regulator of pancreatic cancer metastasis.
Molecular basis and dual ligand regulation of tetrameric estrogen receptor alpha/14-3-3zeta protein complex.
Title: Molecular basis and dual ligand regulation of tetrameric estrogen receptor α/14-3-3ζ protein complex.
Discovery of 14-3-3 zeta as a potential biomarker for cardiac hypertrophy.
Title: Discovery of 14-3-3 zeta as a potential biomarker for cardiac hypertrophy.
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Expression of PD-L1 and YWHAZ in Patients with Diffuse Large B Cell Lymphoma: A Possible Association with the Prognosis of Lymphoma.
Title: Expression of PD-L1 and YWHAZ in Patients with Diffuse Large B Cell Lymphoma: A Possible Association with the Prognosis of Lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (195)

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
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta (YWHAZ) in Jurkat cells	PubMed
Vpr	vpr	BiFC assays demonstrate that 14-3-3 zeta directly interacts with HIV-1 Vpr in the nulceus of HeLa cells	PubMed
	vpr	HIV-1 Vpr inhibits insulin-induced association of 14-3-3 and Foxo3a in HeLa cells	PubMed
	vpr	Interaction of HIV-1 Vpr with human 14-3-3 protein is presumed based on homology to yeast DNA damage checkpoint protein rad25 which enhances HIV-1 Vpr-induced G2 arrest in vitro, most likely through the inhibition of Cdc25	PubMed
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with 14-3-3-zeta (YWHAZ) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

NoName (e-PCR)
- UniSTS:483410

SHGC-35187 (e-PCR)
- UniSTS:2969

PMC126239P3 (e-PCR)
- UniSTS:270535

PMC150726P7 (e-PCR)
- UniSTS:271079

YWHAZ_1120.2 (e-PCR)
- UniSTS:281082

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphoserine residue binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in Golgi reassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of Golgi localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to nucleus	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 protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	EXP Inferred from Experiment more info	PubMed
involved_in regulation of synapse maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic target recognition	IEA Inferred from Electronic Annotation more info
involved_in tube formation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: 14-3-3 protein zeta/delta

Names: 14-3-3 delta; 14-3-3 protein/cytosolic phospholipase A2; 14-3-3 zeta; epididymis luminal protein 4; epididymis secretory protein Li 3; epididymis secretory protein Li 93; phospholipase A2; protein kinase C inhibitor protein-1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide; tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide

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_001135699.2 → NP_001129171.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_001129171.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. All six transcripts encode the same protein.

Source sequence(s)

AA830489, AC018781, AC027373, BC072426, BM783874

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000398599.1, ENST00000457309.2

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein
NM_001135700.2 → NP_001129172.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_001129172.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. All six transcripts encode the same protein.

Source sequence(s)

AC027373, BC072426, BM783874, CR996247

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000379286.3, ENST00000395956.7

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein
NM_001135701.2 → NP_001129173.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_001129173.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 2. All six transcripts encode the same protein.

Source sequence(s)

AC027373, BC072426, BM783874, CN276627, CR996247

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000395114.2, ENST00000419477.6

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein
NM_001135702.2 → NP_001129174.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_001129174.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 2. All six transcripts encode the same protein.

Source sequence(s)

AC027373, BC072426, BM783874, BQ605329, DB472116

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000379281.3, ENST00000395951.7

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein
NM_003406.4 → NP_003397.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_003397.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. All six transcripts encode the same protein.

Source sequence(s)

AC027373, BC072426, BM783874, DC298291

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000309503.3, ENST00000353245.7

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein
NM_145690.3 → NP_663723.1 14-3-3 protein zeta/delta

See identical proteins and their annotated locations for NP_663723.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript. All six transcripts encode the same protein.

Source sequence(s)

AC027373, BC072426, BM783874

Consensus CDS

CCDS6290.1

UniProtKB/Swiss-Prot

A8K1N0, B7Z465, P29213, P29312, P63104, Q32P43, Q5XJ08, Q6GPI2, Q6IN74, Q6NUR9, Q6P3U9, Q86V33

UniProtKB/TrEMBL

D0PNI1, E7EX29

Related

ENSP00000379288.2, ENST00000395958.6

Conserved Domains (1) summary

cd10022
Location:2 → 230

14-3-3_beta_zeta; 14-3-3 beta and zeta isoforms of 14-3-3 protein