NOA1

protein-coding

nitric oxide associated 1

Gene summary

The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]

Previous symbols:

C4orf14

MANE transcript

NM_032313.4

Inheritance

—

ClinVar variants

U:112B:19

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr4:56,963,350-56,977,606

External References & Databases

Ensembl (ENSG00000084092)

Transcript & Mutation Effects

hg38 • Region Span ~14.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NOA1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 116

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032313.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	8 clinvar	1 clinvar	10
missense			108 clinvar	9 clinvar	1 clinvar	118
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	112	17	2	131

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032313.4	RefSeq	NP_115689.1	7	MANE Select
ENST00000264230.5	Ensembl	ENSP00000264230.4	7	MANE Select
ENST00000904429.1	Ensembl	ENSP00000574488.1	6	Standard
ENST00000904429.2	Ensembl	ENSP00000574488.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process
regulation of cell death
mitochondrial translation
regulation of cellular respiration

Molecular Function

RNA binding
protein binding
GTP binding

Cellular Component

mitochondrion
extrinsic component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264230
Coding exons: 7
Length: 15454
Individuals with no LoFs: 125696
Homozygous LoFs: 0
Heterozygous LoFs: 52
Defined: 125748
p: 0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.112	383	389	0.984	0.0000187	4438
Missense (PolyPhen)		121	125.52	0.96402		1512
Synonymous	-0.00928	165	165	1.00	0.00000802	1471
Loss of Function	2.63	13	28.0	0.464	0.00000138	305

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00047	0.00025	rare
Latino/Admixed American	0.00030	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00029	0.00028	rare
South Asian	0.000065	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP. {ECO:0000269|PubMed:19103604}.;

Recessive Scores

pRec: 0.0757

Intolerance Scores

RVIS EVS: 0.46
RVIS percentile EVS: 78.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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