OAZ1

ornithine decarboxylase antizyme 1

Basic information

Region (hg38): 19:2269509-2273492

Previous symbols: [ "OAZ" ]

Links

ENSG00000104904

∙ NCBI:4946 ∙ OMIM:601579 ∙ HGNC:8095 ∙ Uniprot:P54368 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OAZ1 gene.

not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OAZ1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in OAZ1

This is a list of pathogenic ClinVar variants found in the OAZ1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-2273083-A-T			Likely benign (Oct 01, 2023)	2648969

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OAZ1	protein_coding	protein_coding	ENST00000602676	6	4003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.178	0.810	124111	0	10	124121	0.0000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.875	160	132	1.21	0.00000767	1462
Missense in Polyphen		41	42.201	0.97154		482
Synonymous	-3.50	95	60.4	1.57	0.00000416	443
Loss of Function	2.19	3	10.7	0.280	8.09e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000135	0.000111
Finnish	0.0000486	0.0000464
European (Non-Finnish)	0.0000638	0.0000535
Middle Eastern	0.000135	0.000111
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome (PubMed:17900240, PubMed:26305948, PubMed:26443277). Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC (PubMed:26305948). Stabilizes AZIN2 by interfering with its ubiquitination (PubMed:17900240). Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (PubMed:12097147). {ECO:0000269|PubMed:12097147, ECO:0000269|PubMed:17900240, ECO:0000269|PubMed:26305948, ECO:0000269|PubMed:26443277}.;
Pathway: Nucleotide Metabolism;Regulation of ornithine decarboxylase (ODC);Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism;Aurora A signaling (Consensus)

Recessive Scores

pRec: 0.176

Haploinsufficiency Scores

pHI: 0.258
hipred: N
hipred_score: 0.369
ghis: 0.558

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.914

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Oaz1
Phenotype

Gene ontology

Biological process: regulation of cellular amino acid metabolic process;polyamine biosynthetic process;negative regulation of catalytic activity;positive regulation of protein catabolic process;positive regulation of intracellular protein transport;negative regulation of polyamine transmembrane transport
Cellular component: nucleus;cytoplasm;cytosol
Molecular function: protein binding;ornithine decarboxylase inhibitor activity