Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10650
Gene name	PRELI domain containing 3A
Gene symbol	PRELID3A
Synonyms (NCBI Gene)	C18orf43HFL-EDDG1SLMO1
Chromosome	18
Chromosome location	18p11.21

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26071602
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IBA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0015914	Process	Phospholipid transport	IBA
GO:0015914	Process	Phospholipid transport	IDA	26071602
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:1990050	Function	Phosphatidic acid transfer activity	IBA
GO:1990050	Function	Phosphatidic acid transfer activity	IDA	26071602

MIM	HGNC	e!Ensembl
616545	24639	ENSG00000141391

Q96N28

Protein name

PRELI domain containing protein 3A (Protein slowmo homolog 1)

Protein function

In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin

PDB

4XZV , 8AG0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04707	PRELI	15 → 170	PRELI-like family	Family

Sequence

MKIWSSEHVFGHPWDTVIQAAMRKYPNPMNPSVLGVDVLQRRVDGRGRLHSLRLLSTEWG
LPSLVRAILGTSRTLTYIREHSVVDPVEKKMELCSTNITLTNLVSVNERLVYTPHPENPE
MTVLTQEAIITVKGISLGSYLESLMANTISSNAKKGWAAIEWIIEHSESAVS

Sequence length

172

Interactions

View interactions

	Reactome
			TP53 Regulates Transcription of Genes Involved in Cytochrome C Release

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
UVEAL MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRELID3A (PRELI domain containing 3A)