OLA1

protein-coding

Obg like ATPase 1

Gene summary

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]

Previous symbols:

GTPBP9

MANE transcript

NM_013341.5

Inheritance

—

ClinVar variants

U:51

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr2:174,072,447-174,248,599

External References & Databases

Ensembl (ENSG00000138430)

Transcript & Mutation Effects

hg38 • Region Span ~176.2 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 OLA1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 46

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_013341.5. 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			49 clinvar			49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	51	0	0	51

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_013341.5	RefSeq	NP_037473.3	10	MANE Select
ENST00000284719.8	Ensembl	ENSP00000284719.3	10	MANE Select
NM_001011708.3	RefSeq	NP_001011708.1	7	Standard
NM_001328688.2	RefSeq	NP_001315617.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Platelet degranulation
Response to elevated platelet cytosolic Ca2+
Platelet activation, signaling and aggregation
Hemostasis

Biological Process

platelet degranulation
ATP metabolic process

Molecular Function

protein binding
ATP binding
GTP binding
ATPase activity
ribosome binding

Cellular Component

extracellular region
nucleolus
cytoplasm
centrosome
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000284719
Coding exons: 10
Length: 176252
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125739
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.75	131	201	0.652	0.00000946	2632
Missense (PolyPhen)		37	75.411	0.49064		1041
Synonymous	-0.674	74	67.0	1.10	0.00000329	698
Loss of Function	2.98	6	20.6	0.292	0.00000103	268

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000064	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000057	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000065	0.000062	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP. {ECO:0000255|HAMAP- Rule:MF_03167}.;

Recessive Scores

pRec: 0.253

Intolerance Scores

LoFtool: 0.448
RVIS EVS: -0.23
RVIS percentile EVS: 37.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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