PTAR1

protein-coding

protein prenyltransferase alpha subunit repeat containing 1, the group of Prenyltransferase alpha subunit repeat containing

Gene summary

Predicted to enable protein prenyltransferase activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001099666.2

Inheritance

—

ClinVar variants

U:58B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr9:69,709,522-69,760,011

External References & Databases

Ensembl (ENSG00000188647)

Transcript & Mutation Effects

hg38 • Region Span ~50.5 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 PTAR1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 54

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001099666.2. 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						0
missense			53 clinvar	1 clinvar		54
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	58	1	0	59

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001099666.2	RefSeq	NP_001093136.1	8	MANE Select
ENST00000340434.5	Ensembl	ENSP00000344299.4	8	MANE Select
NM_001366935.1	RefSeq	NP_001353864.1	5	Standard
NM_001366936.1	RefSeq	NP_001353865.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein prenylation

Molecular Function

protein prenyltransferase activity

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340434
Coding exons: 8
Length: 50438
Individuals with no LoFs: 124510
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 124526
p: 0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.44	148	206	0.717	0.0000104	2620
Missense (PolyPhen)		26	53.743	0.48378		670
Synonymous	0.450	70	75.0	0.934	0.00000368	771
Loss of Function	3.49	3	19.7	0.152	0.00000101	230

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00040	0.00039	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.638
RVIS EVS: -0.03
RVIS percentile EVS: 51.66

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.0903

Gene Damage Prediction

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