OLA1

Chr 2

Obg like ATPase 1

Also known as: DOC45, GBP45, GTBP9, GTPBP9, PTD004

NCBI Gene: 29789 ENSG00000138430 UniProt: Q9NTK5 OMIM: 611175

This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.58

Clinical Summary— OLA1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

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ClinVar Variants

47 VUS of 62 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.58LOEUF

pLI 0.058

Z-score 2.98

OE 0.29 (0.16–0.58)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.75Z-score

OE missense 0.65 (0.56–0.75)

131 obs / 201.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.29 (0.16–0.58)

0≤0.351.4

Missense OE?0.65 (0.56–0.75)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 6 / 20.6Missense obs/exp: 131 / 201.0Syn Z: -0.67

This gene — mechanism propensity

0.6842th %ile

GOF

0.5562th %ile

LOF

0.3356th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

VUS47

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	47	47
Likely Benign	0	0
Benign	0	0
Total	47	47

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

28 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap OLA1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →