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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9373
Gene name Gene Name - the full gene name approved by the HGNC.	Phospholipase A2 activating protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLAA
Synonyms (NCBI Gene) Gene synonyms aliases	DOA1, NDMSBA, PLA2P, PLAP
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p21.2

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167457	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1426488816	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1587143858	C>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1587185107	->CTA	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all(90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT700756	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT700755	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT700754	hsa-miR-4698	HITS-CLIP	23313552
MIRT700753	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT700752	hsa-miR-1281	HITS-CLIP	23313552
MIRT700751	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT700750	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT700749	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT700748	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT700747	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT700746	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT700745	hsa-miR-5095	HITS-CLIP	23313552
MIRT700744	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT700743	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT700756	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT700755	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT700754	hsa-miR-4698	HITS-CLIP	23313552
MIRT700753	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT700752	hsa-miR-1281	HITS-CLIP	23313552
MIRT700751	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT700750	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT700749	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT700748	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT700747	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT700746	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT700745	hsa-miR-5095	HITS-CLIP	23313552
MIRT700744	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT700743	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT1238864	hsa-miR-1265	CLIP-seq
MIRT1238865	hsa-miR-154	CLIP-seq
MIRT1238866	hsa-miR-2392	CLIP-seq
MIRT1238867	hsa-miR-302f	CLIP-seq
MIRT1238868	hsa-miR-3163	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT1238870	hsa-miR-377	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238872	hsa-miR-489	CLIP-seq
MIRT1238873	hsa-miR-548c-3p	CLIP-seq
MIRT1238874	hsa-miR-556-3p	CLIP-seq
MIRT1238875	hsa-miR-561	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238864	hsa-miR-1265	CLIP-seq
MIRT1238866	hsa-miR-2392	CLIP-seq
MIRT1238870	hsa-miR-377	CLIP-seq
MIRT1922925	hsa-miR-4677-3p	CLIP-seq
MIRT1922926	hsa-miR-4679	CLIP-seq
MIRT2070267	hsa-miR-361-5p	CLIP-seq
MIRT2070268	hsa-miR-3653	CLIP-seq
MIRT2070269	hsa-miR-3658	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2070270	hsa-miR-4438	CLIP-seq
MIRT2070271	hsa-miR-4519	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT2070272	hsa-miR-4704-3p	CLIP-seq
MIRT2070273	hsa-miR-4742-5p	CLIP-seq
MIRT2070274	hsa-miR-4753-3p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT2070275	hsa-miR-944	CLIP-seq
MIRT1238868	hsa-miR-3163	CLIP-seq
MIRT2297530	hsa-miR-3622a-3p	CLIP-seq
MIRT2297531	hsa-miR-3622b-3p	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2297532	hsa-miR-380	CLIP-seq
MIRT2297533	hsa-miR-3924	CLIP-seq
MIRT2297534	hsa-miR-4495	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2594914	hsa-miR-1279	CLIP-seq
MIRT2594915	hsa-miR-3685	CLIP-seq
MIRT2594916	hsa-miR-384	CLIP-seq
MIRT2594917	hsa-miR-4272	CLIP-seq
MIRT2594918	hsa-miR-4471	CLIP-seq
MIRT2594919	hsa-miR-452	CLIP-seq
MIRT2594920	hsa-miR-4528	CLIP-seq
MIRT2594921	hsa-miR-4676-3p	CLIP-seq
MIRT2594922	hsa-miR-4709-3p	CLIP-seq
MIRT2594923	hsa-miR-4715-3p	CLIP-seq
MIRT2594924	hsa-miR-548m	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Unknown	18291623

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18775313, 22190034, 25416956, 27753622, 32296183, 35271311, 37776851
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28007986
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	27753622, 28007986
GO:0005737	Component	Cytoplasm	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	TAS	9931468
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	TAS	9931468
GO:0007399	Process	Nervous system development	IEA
GO:0010992	Process	Ubiquitin recycling	IBA
GO:0016005	Function	Phospholipase A2 activator activity	IEA
GO:0016005	Function	Phospholipase A2 activator activity	IMP	28007986
GO:0016005	Function	Phospholipase A2 activator activity	TAS	9931468
GO:0016236	Process	Macroautophagy	IMP	27753622
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	IEA
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	ISS
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0070062	Component	Extracellular exosome	IDA	17076679
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	28007986
GO:1900045	Process	Negative regulation of protein K63-linked ubiquitination	IEA
GO:1900045	Process	Negative regulation of protein K63-linked ubiquitination	ISS
GO:1903423	Process	Positive regulation of synaptic vesicle recycling	IEA
GO:1903423	Process	Positive regulation of synaptic vesicle recycling	ISS
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1903861	Process	Positive regulation of dendrite extension	ISS
GO:2001224	Process	Positive regulation of neuron migration	IEA
GO:2001224	Process	Positive regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
603873	9043	ENSG00000137055

Protein

UniProt ID

Q9Y263

Protein name

Phospholipase A-2-activating protein (PLA2P) (PLAP)

Protein function

Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a ro

PDB

2K89 , 2K8A , 2K8B , 2K8C , 3EBB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	55 → 98	WD domain, G-beta repeat	Repeat
PF00400	WD40	103 → 138	WD domain, G-beta repeat	Repeat
PF00400	WD40	141 → 179	WD domain, G-beta repeat	Repeat
PF00400	WD40	181 → 218	WD domain, G-beta repeat	Repeat
PF00400	WD40	221 → 259	WD domain, G-beta repeat	Repeat
PF00400	WD40	261 → 298	WD domain, G-beta repeat	Repeat
PF09070	PFU	345 → 459	PFU (PLAA family ubiquitin binding)	Domain
PF08324	PUL	535 → 789	PUL domain	Domain

Sequence

MTSGATRYRLSCSLRGHELDVRGLVCCAYPPGAFVSVSRDRTTRLWAPDSPNRSFTEMHC
MSGHSNFVSCVCIIPSSDIYPHGLIATGGNDHNICIFSLDSPMPLYILKGHKNTVCSLSS
GKFGTLLSGSWDTTAKVWLNDKCMMTLQGHTAAVWAVKILPEQGLMLTGSADKTVKLWKA
GRCERTFSGHEDCVRGLAILSETEFLSCANDASIRRWQITGECLEVYYGHTNYIYSISVF
PNCRDFVTTAEDRSLRIWKHGECAQTIRLPAQSIWCCCVLDNGDIVVGASDGIIRVFTES
EDRTASAEEIKAFEKELSHATIDSKTGDLGDINAEQLPGREHLNEPGTREGQTRLIRDGE
KVEAYQWSVSEGRWIKIGDVVGSSGANQQTSGKVLYEGKEFDYVFSIDVNEGGPSYKLPY
NTSDDPWLTAYNFLQKNDLNPMFLDQVAKFIIDNTKGQMLGLGNPSFSDPFTGGGRYVPG
SSGSSNTLPTADPFTGAGRYVPGSASMGTTMAGVDPFTGNSAYRSAASKTMNIYFPKKEA
VTFDQANPTQILGKLKELNGTAPEEKKLTEDDLILLEKILSLICNSSSEKPTVQQLQILW
KAINCPEDIVFPALDILRLSIKHPSVNENFCNEKEGAQFSSHLINLLNPKGKPANQLLAL
RTFCNCFVGQAGQKLMMSQRESLMSHAIELKSGSNKNIHIALATLALNYSVCFHKDHNIE
GKAQCLSLISTILEVVQDLEATFRLLVALGTLISDDSNAVQLAKSLGVDSQIKKYSSVSE
PAKVSECCRFILNLL

Sequence length

795

Interactions

View interactions

	KEGG
	Protein processing in endoplasmic reticulum

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	rs1114167457, rs747956857, rs1554662408, rs1587143858, rs1587185107, rs1587205406	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	1420999
Autistic Disorder	Associate	30755392
Cerebral Palsy	Associate	40243517
Developmental Disabilities	Associate	30755392
Endodermal Sinus Tumor	Associate	31375771
Immune System Diseases	Associate	30755392
Inflammation	Associate	18291623
Neoplasms	Associate	30755392
Rhabdomyosarcoma Alveolar	Associate	36232302
Schizophrenia	Associate	20185149

PLAA (phospholipase A2 activating protein)