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Gene: PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3) Homo sapiens

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Symbol:

PAFAH1B3

Name:

platelet activating factor acetylhydrolase 1b catalytic subunit 3

RGD ID:

732942

HGNC Page

HGNC:8576

Description:

Enables protein heterodimerization activity and protein homodimerization activity. Predicted to be involved in lipid metabolic process and nervous system development. Predicted to act upstream of or within spermatogenesis. Located in membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ44990; PAF acetylhydrolase 29 kDa subunit; PAF-AH 29 kDa subunit; PAF-AH subunit gamma; PAF-AH1b alpha 1 subunit; PAFAH subunit gamma; PAFAHG; platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa); platelet-activating factor acetylhydrolase IB subunit alpha1; platelet-activating factor acetylhydrolase IB subunit gamma; platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	42,297,033 - 42,302,800 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	42,297,033 - 42,303,546 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	42,801,185 - 42,806,952 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	47,493,025 - 47,498,563 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	47,493,024 - 47,498,563	NCBI
Celera	19	39,601,981 - 39,607,748 (-)	NCBI		Celera
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	39,231,325 - 39,237,093 (-)	NCBI		HuRef
CHM1_1	19	42,802,836 - 42,808,603 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	45,116,406 - 45,122,173 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	autism spectrum disorder		IAGP	RGD:42723419	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
PAFAH1B3	Human	autosomal dominant intellectual developmental disorder 45		IAGP	RGD:401948433	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45	ClinVar	PMID:25741868
PAFAH1B3	Human	Carpenter syndrome 2		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: Carpenter syndrome 2	ClinVar	PMID:28492532
PAFAH1B3	Human	congenital hypoplastic anemia		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: Congenital hypoplastic anemia	ClinVar	PMID:28492532
PAFAH1B3	Human	craniosynostosis		IAGP	RGD:126909808	8554872	ClinVar Annotator: match by term: Syndromic craniosynostosis	ClinVar
PAFAH1B3	Human	craniosynostosis 1		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: TWIST1-related craniosynostosis	ClinVar	PMID:28492532
PAFAH1B3	Human	Diamond-Blackfan anemia		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: Aase syndrome	ClinVar	PMID:28492532
PAFAH1B3	Human	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN		IAGP	RGD:329350656	8554872	ClinVar Annotator: match by term: Dias-Logan syndrome	ClinVar	PMID:25741868
PAFAH1B3	Human	maple syrup urine disease		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: Maple syrup urine disease	ClinVar	PMID:28492532
PAFAH1B3	Human	schizophrenia		IAGP	RGD:14351801	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	1,1-dichloroethene	increases expression	ISO	RGD:732943	6480464	vinylidene chloride results in increased expression of PAFAH1B3 mRNA	CTD	PMID:26682919
PAFAH1B3	Human	1,2-dimethylhydrazine	decreases expression	ISO	RGD:732943	6480464	1,2-Dimethylhydrazine results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22206623
PAFAH1B3	Human	17alpha-ethynylestradiol	decreases expression	ISO	RGD:620333	6480464	Ethinyl Estradiol results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:15834898
PAFAH1B3	Human	17beta-estradiol	increases expression	ISO	RGD:732943	6480464	Estradiol results in increased expression of PAFAH1B3 mRNA	CTD	PMID:15289156\|PMID:39298647
PAFAH1B3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:620333	6480464	Tetrachlorodibenzodioxin affects the expression of PAFAH1B3 mRNA	CTD	PMID:22298810
PAFAH1B3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:620333	6480464	Tetrachlorodibenzodioxin results in increased expression of PAFAH1B3 mRNA	CTD	PMID:32109520\|PMID:34747641
PAFAH1B3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of PAFAH1B3 mRNA	CTD	PMID:22574217
PAFAH1B3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:732943	6480464	Tetrachlorodibenzodioxin affects the expression of PAFAH1B3 mRNA	CTD	PMID:21570461
PAFAH1B3	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	RGD:732943	6480464	2,2',4,4',5-brominated diphenyl ether affects the expression of PAFAH1B3 mRNA	CTD	PMID:38648751
PAFAH1B3	Human	4-hydroxyphenyl retinamide	increases expression	ISO	RGD:732943	6480464	Fenretinide results in increased expression of PAFAH1B3 mRNA	CTD	PMID:28973697
PAFAH1B3	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:620333	6480464	Propylthiouracil results in increased expression of PAFAH1B3 mRNA	CTD	PMID:24780913\|PMID:25825206
PAFAH1B3	Human	acetamide	decreases expression	ISO	RGD:620333	6480464	acetamide results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:31881176
PAFAH1B3	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of PAFAH1B3 protein	CTD	PMID:38460933
PAFAH1B3	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33167477
PAFAH1B3	Human	alpha-Zearalanol	multiple interactions	ISO	RGD:620333	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:35163327
PAFAH1B3	Human	amitrole	increases expression	ISO	RGD:620333	6480464	Amitrole results in increased expression of PAFAH1B3 mRNA	CTD	PMID:38685447
PAFAH1B3	Human	ammonium chloride	affects expression	ISO	RGD:620333	6480464	Ammonium Chloride affects the expression of PAFAH1B3 mRNA	CTD	PMID:16483693
PAFAH1B3	Human	antimycin A	decreases expression	EXP		6480464	Antimycin A results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33512557
PAFAH1B3	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PAFAH1B3	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PAFAH1B3	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of PAFAH1B3 mRNA	CTD	PMID:20458559
PAFAH1B3	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22378314
PAFAH1B3	Human	benzo[a]pyrene	increases expression	ISO	RGD:732943	6480464	Benzo(a)pyrene results in increased expression of PAFAH1B3 mRNA	CTD	PMID:20504355
PAFAH1B3	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of PAFAH1B3 mRNA	CTD	PMID:32234424
PAFAH1B3	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of PAFAH1B3 promoter	CTD	PMID:27901495
PAFAH1B3	Human	benzo[a]pyrene	decreases expression	ISO	RGD:732943	6480464	Benzo(a)pyrene results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22228805
PAFAH1B3	Human	bisphenol A	affects expression	ISO	RGD:620333	6480464	bisphenol A affects the expression of PAFAH1B3 mRNA	CTD	PMID:25181051
PAFAH1B3	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of PAFAH1B3 protein	CTD	PMID:37567409
PAFAH1B3	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of PAFAH1B3 mRNA	CTD	PMID:30903817
PAFAH1B3	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of PAFAH1B3 protein	CTD	PMID:24527689
PAFAH1B3	Human	captan	decreases expression	ISO	RGD:732943	6480464	Captan results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:31558096
PAFAH1B3	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of PAFAH1B3 mRNA	CTD	PMID:25979313
PAFAH1B3	Human	chlorpyrifos	increases expression	ISO	RGD:732943	6480464	Chlorpyrifos results in increased expression of PAFAH1B3 mRNA	CTD	PMID:37019170
PAFAH1B3	Human	cisplatin	increases response to substance	EXP		6480464	PAFAH1B3 protein results in increased susceptibility to Cisplatin	CTD	PMID:16734730
PAFAH1B3	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:19320972\|PMID:19376846
PAFAH1B3	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:19549813
PAFAH1B3	Human	Cuprizon	increases expression	ISO	RGD:620333	6480464	Cuprizone results in increased expression of PAFAH1B3 mRNA	CTD	PMID:26577399
PAFAH1B3	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:20106945\|PMID:27989131
PAFAH1B3	Human	decabromodiphenyl ether	increases expression	ISO	RGD:620333	6480464	decabromobiphenyl ether results in increased expression of PAFAH1B3 mRNA	CTD	PMID:23640034
PAFAH1B3	Human	deguelin	decreases expression	EXP		6480464	deguelin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33512557
PAFAH1B3	Human	dexamethasone	decreases expression	EXP		6480464	Dexamethasone results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:25047013
PAFAH1B3	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of PAFAH1B3 mRNA	CTD	PMID:20458559
PAFAH1B3	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of PAFAH1B3 gene	CTD	PMID:22964155
PAFAH1B3	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of PAFAH1B3 mRNA	CTD	PMID:37042841
PAFAH1B3	Human	dibutyl phthalate	decreases expression	ISO	RGD:732943	6480464	Dibutyl Phthalate results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:17361019\|PMID:21266533
PAFAH1B3	Human	dichloroacetic acid	increases expression	ISO	RGD:732943	6480464	Dichloroacetic Acid results in increased expression of PAFAH1B3 mRNA	CTD	PMID:28962523
PAFAH1B3	Human	diethylstilbestrol	increases expression	ISO	RGD:732943	6480464	Diethylstilbestrol results in increased expression of PAFAH1B3 mRNA	CTD	PMID:15289156
PAFAH1B3	Human	dioxygen	increases expression	ISO	RGD:732943	6480464	Oxygen deficiency results in increased expression of PAFAH1B3 mRNA	CTD	PMID:20880076
PAFAH1B3	Human	doxorubicin	affects expression	EXP		6480464	Doxorubicin affects the expression of PAFAH1B3 mRNA	CTD	PMID:29803840
PAFAH1B3	Human	elemental selenium	increases expression	EXP		6480464	Selenium results in increased expression of PAFAH1B3 mRNA	CTD	PMID:19244175
PAFAH1B3	Human	endosulfan	increases expression	ISO	RGD:620333	6480464	Endosulfan results in increased expression of PAFAH1B3 mRNA	CTD	PMID:29391264
PAFAH1B3	Human	ethanol	multiple interactions	ISO	RGD:732943	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PAFAH1B3 mRNA	CTD	PMID:30517762
PAFAH1B3	Human	ethanol	affects expression	ISO	RGD:732943	6480464	Ethanol affects the expression of PAFAH1B3 mRNA	CTD	PMID:30319688
PAFAH1B3	Human	fenpyroximate	decreases expression	EXP		6480464	fenpyroximate results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33512557
PAFAH1B3	Human	fipronil	decreases expression	ISO	RGD:620333	6480464	fipronil results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:23962444
PAFAH1B3	Human	flavonoids	increases expression	ISO	RGD:620333	6480464	Flavonoids results in increased expression of PAFAH1B3 mRNA	CTD	PMID:18035473
PAFAH1B3	Human	genistein	increases expression	ISO	RGD:732943	6480464	Genistein results in increased expression of PAFAH1B3 mRNA	CTD	PMID:15289156
PAFAH1B3	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of PAFAH1B3 mRNA	CTD	PMID:17183730
PAFAH1B3	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of PAFAH1B3 protein	CTD	PMID:32959892
PAFAH1B3	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PAFAH1B3	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PAFAH1B3	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PAFAH1B3	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of PAFAH1B3 mRNA	CTD	PMID:23179753\|PMID:27188386
PAFAH1B3	Human	nitrates	multiple interactions	ISO	RGD:732943	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of PAFAH1B3 more ...	CTD	PMID:35964746
PAFAH1B3	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of PAFAH1B3 protein	CTD	PMID:38460933
PAFAH1B3	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of PAFAH1B3 mRNA	CTD	PMID:38832940
PAFAH1B3	Human	ozone	multiple interactions	ISO	RGD:732943	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased more ...	CTD	PMID:34911549
PAFAH1B3	Human	paracetamol	affects expression	ISO	RGD:732943	6480464	Acetaminophen affects the expression of PAFAH1B3 mRNA	CTD	PMID:17562736
PAFAH1B3	Human	paracetamol	decreases expression	ISO	RGD:620333	6480464	Acetaminophen results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33387578
PAFAH1B3	Human	perfluorononanoic acid	decreases expression	EXP		6480464	perfluoro-n-nonanoic acid results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:25812627
PAFAH1B3	Human	perfluorooctane-1-sulfonic acid	decreases expression	EXP		6480464	perfluorooctane sulfonic acid results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:25812627
PAFAH1B3	Human	perfluorooctanoic acid	multiple interactions	ISO	RGD:620333	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:35163327
PAFAH1B3	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:25812627
PAFAH1B3	Human	picoxystrobin	decreases expression	EXP		6480464	picoxystrobin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33512557
PAFAH1B3	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in more ...	CTD	PMID:19710929
PAFAH1B3	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in increased expression of PAFAH1B3 more ...	CTD	PMID:37664457
PAFAH1B3	Human	selenium atom	increases expression	EXP		6480464	Selenium results in increased expression of PAFAH1B3 mRNA	CTD	PMID:19244175
PAFAH1B3	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:38568856
PAFAH1B3	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:33939924\|PMID:39836092
PAFAH1B3	Human	sulforaphane	decreases expression	EXP		6480464	sulforaphane results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:31838189
PAFAH1B3	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:31533062
PAFAH1B3	Human	tebufenpyrad	decreases expression	EXP		6480464	4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:33512557
PAFAH1B3	Human	temozolomide	decreases expression	EXP		6480464	Temozolomide results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:31758290
PAFAH1B3	Human	tetrachloromethane	multiple interactions	ISO	RGD:732943	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PAFAH1B3 mRNA	CTD	PMID:30517762
PAFAH1B3	Human	tetrachloromethane	increases expression	ISO	RGD:732943	6480464	Carbon Tetrachloride results in increased expression of PAFAH1B3 mRNA	CTD	PMID:31919559
PAFAH1B3	Human	thioacetamide	increases expression	ISO	RGD:620333	6480464	Thioacetamide results in increased expression of PAFAH1B3 mRNA	CTD	PMID:23411599
PAFAH1B3	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:38568856
PAFAH1B3	Human	titanium dioxide	decreases methylation	ISO	RGD:732943	6480464	titanium dioxide results in decreased methylation of PAFAH1B3 gene	CTD	PMID:35295148
PAFAH1B3	Human	titanium dioxide	increases methylation	ISO	RGD:732943	6480464	titanium dioxide results in increased methylation of PAFAH1B3 gene	CTD	PMID:35295148
PAFAH1B3	Human	toluene	decreases expression	ISO	RGD:620333	6480464	Toluene results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22967744
PAFAH1B3	Human	trichloroethene	increases methylation	ISO	RGD:620333	6480464	Trichloroethylene results in increased methylation of PAFAH1B3 gene	CTD	PMID:27618143
PAFAH1B3	Human	tungsten	increases expression	ISO	RGD:732943	6480464	Tungsten results in increased expression of PAFAH1B3 mRNA	CTD	PMID:30912803
PAFAH1B3	Human	tunicamycin	decreases expression	EXP		6480464	Tunicamycin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22378314
PAFAH1B3	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:28818685
PAFAH1B3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PAFAH1B3 gene	CTD	PMID:29154799
PAFAH1B3	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of PAFAH1B3 mRNA	CTD	PMID:23179753
PAFAH1B3	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of PAFAH1B3 mRNA	CTD	PMID:17183730
PAFAH1B3	Human	vancomycin	decreases expression	ISO	RGD:732943	6480464	Vancomycin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:18930951
PAFAH1B3	Human	vinclozolin	decreases expression	ISO	RGD:620333	6480464	vinclozolin results in decreased expression of PAFAH1B3 mRNA	CTD	PMID:22615374\|PMID:23034163
PAFAH1B3	Human	vitamin E	increases expression	EXP		6480464	Vitamin E results in increased expression of PAFAH1B3 mRNA	CTD	PMID:19244175
PAFAH1B3	Human	zearalenone	decreases expression	ISO	RGD:732943	6480464	Zearalenone results in decreased expression of PAFAH1B3 protein	CTD	PMID:36252740

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	lipid catabolic process	involved_in	IEA	UniProtKB-KW:KW-0442	150520179		UniProt	GO_REF:0000043
PAFAH1B3	Human	lipid metabolic process	involved_in	IEA	UniProtKB-KW:KW-0443	150520179		UniProt	GO_REF:0000043
PAFAH1B3	Human	lipid metabolic process	involved_in	TAS		150520179	PMID:7669037	PINC	PMID:7669037
PAFAH1B3	Human	nervous system development	involved_in	TAS		150520179	PMID:7669037	PINC	PMID:7669037
PAFAH1B3	Human	spermatogenesis	acts_upstream_of_or_within	IEA	UniProtKB:Q61205\|ensembl:ENSMUSP00000005583	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase complex	part_of	ISS	UniProtKB:O35263\|UniProtKB:Q29460	150520179		UniProt	GO_REF:0000024
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase complex	part_of	IEA	UniProtKB:O35263\|ensembl:ENSRNOP00000027774	150520179		Ensembl	GO_REF:0000107
PAFAH1B3	Human	cytoplasm	is_active_in	IBA	MGI:108414\|MGI:108415\|PANTHER:PTN008528722\|UniProtKB:P68402	150520179		GO_Central	GO_REF:0000033
PAFAH1B3	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PAFAH1B3	Human	cytoplasm	located_in	IEA	UniProtKB:Q61205\|ensembl:ENSMUSP00000005583	150520179		Ensembl	GO_REF:0000107
PAFAH1B3	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
PAFAH1B3	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-8848484
PAFAH1B3	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase activity	enables	ISS	UniProtKB:O35263\|UniProtKB:Q29460	150520179		UniProt	GO_REF:0000024
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase activity	enables	IEA	UniProtKB:O35263\|ensembl:ENSRNOP00000027774	150520179		Ensembl	GO_REF:0000107
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase activity	enables	IEA	RHEA:17777	150520179		RHEA	GO_REF:0000116
PAFAH1B3	Human	1-alkyl-2-acetylglycerophosphocholine esterase activity	enables	IEA	EC:3.1.1.47	150520179		UniProt	GO_REF:0000003
PAFAH1B3	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
PAFAH1B3	Human	identical protein binding	enables	IPI	UniProtKB:Q15102	150520179	PMID:16189514, PMID:21516116, PMID:25416956, PMID:32296183	IntAct	PMID:16189514\|PMID:21516116\|PMID:25416956\|PMID:32296183
PAFAH1B3	Human	platelet-activating factor acetyltransferase activity	enables	IBA	PANTHER:PTN008528722\|RGD:620332	150520179		GO_Central	GO_REF:0000033
PAFAH1B3	Human	platelet-activating factor acetyltransferase activity	contributes_to	IEA	UniProtKB:O35263\|ensembl:ENSRNOP00000027774	150520179		Ensembl	GO_REF:0000107
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:P43034\|UniProtKB:P68402	150520179	PMID:33961781	IntAct	PMID:33961781
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:Q9H190	150520179	PMID:31515488	IntAct	PMID:31515488
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:Q8TBB1	150520179	PMID:29892012	IntAct	PMID:29892012
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:P68402\|UniProtKB:Q8TBB1\|UniProtKB:Q9H190	150520179	PMID:16189514	IntAct	PMID:16189514
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:A8MW99\|UniProtKB:P68402\|UniProtKB:Q8TBB1\|UniProtKB:Q9GZT8\|UniProtKB:Q9H190\|UniProtKB:Q9NRD5	150520179	PMID:32296183	IntAct	PMID:32296183
PAFAH1B3	Human	protein binding	enables	IPI	UniProtKB:P43034	150520179	PMID:28514442	IntAct	PMID:28514442
PAFAH1B3	Human	protein heterodimerization activity	enables	IDA		150520179	PMID:10542206	UniProt	PMID:10542206
PAFAH1B3	Human	protein homodimerization activity	enables	IDA		150520179	PMID:10542206	UniProt	PMID:10542206
PAFAH1B3	Human	protein-containing complex binding		ISO	RGD:620332	9068941	heterodimerization	RGD	PMID:9660828\|REF_RGD_ID:4107046
PAFAH1B3	Human	protein-containing complex binding	enables	IEA	UniProtKB:O35263\|ensembl:ENSRNOP00000027774	150520179		Ensembl	GO_REF:0000107

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	altered Reelin signaling pathway		ISO	RGD:732943	4107040		RGD
PAFAH1B3	Human	Reelin signaling pathway		ISO	RGD:732943	4107040		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PAFAH1B3	Human	Autistic behavior		IAGP	RGD:42723419	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
PAFAH1B3	Human	Congenital hypoplastic anemia		IAGP	RGD:156436254	8554872	ClinVar Annotator: match by term: Congenital hypoplastic anemia	ClinVar	PMID:28492532
PAFAH1B3	Human	Schizophrenia		IAGP	RGD:14351801	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	The Pafah1b complex interacts with the reelin receptor VLDLR.	Zhang G, etal., PLoS One. 2007 Feb 28;2(2):e252.

PMID:7669037	PMID:9144386	PMID:9693049	PMID:10542206	PMID:10727864	PMID:11285245	PMID:12477932	PMID:14733918	PMID:15057824	PMID:15489334	PMID:16169070	PMID:16189514
PMID:16236267	PMID:19622634	PMID:19738201	PMID:19946888	PMID:20360068	PMID:21044950	PMID:21516116	PMID:21653829	PMID:21844189	PMID:21873635	PMID:22461910	PMID:22623428
PMID:22863883	PMID:23376485	PMID:24711643	PMID:24954006	PMID:25416956	PMID:25921289	PMID:25945974	PMID:26186194	PMID:26344197	PMID:26496610	PMID:27107014	PMID:28514442
PMID:28986522	PMID:29128334	PMID:29180619	PMID:29791485	PMID:29892012	PMID:30463901	PMID:30884312	PMID:31515488	PMID:31950832	PMID:31980649	PMID:32296183	PMID:32393512
PMID:33729478	PMID:33961781	PMID:35013556	PMID:35256949	PMID:35944360	PMID:35987950	PMID:36215168	PMID:37054706	PMID:37096518	PMID:37102492	PMID:37223481	PMID:37499664
PMID:38649699	PMID:39147351

PAFAH1B3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	42,297,033 - 42,302,800 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	42,297,033 - 42,303,546 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	42,801,185 - 42,806,952 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	47,493,025 - 47,498,563 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	47,493,024 - 47,498,563	NCBI
Celera	19	39,601,981 - 39,607,748 (-)	NCBI		Celera
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	39,231,325 - 39,237,093 (-)	NCBI		HuRef
CHM1_1	19	42,802,836 - 42,808,603 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	45,116,406 - 45,122,173 (-)	NCBI		T2T-CHM13v2.0

Pafah1b3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	24,994,473 - 24,997,377 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	24,994,474 - 24,997,411 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	25,295,048 - 25,297,986 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	25,295,049 - 25,297,986 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	26,080,068 - 26,082,974 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	25,003,809 - 25,006,715 (-)	NCBI		MGSCv36	mm8
Celera	7	19,910,093 - 19,912,999 (-)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	13.73	NCBI

Pafah1b3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	90,009,085 - 90,011,611 (-)	NCBI		GRCr8
mRatBN7.2	1	80,881,263 - 80,883,789 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	80,881,309 - 80,883,893 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	86,273,482 - 86,276,008 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	94,824,609 - 94,827,135 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	88,029,259 - 88,031,785 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	82,163,733 - 82,166,259 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	82,163,595 - 82,166,363 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	83,427,895 - 83,430,421 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	80,570,160 - 80,572,686 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	80,648,270 - 80,650,797 (-)	NCBI
Celera	1	75,324,171 - 75,326,697 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Pafah1b3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955555	609,925 - 612,701 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955555	609,925 - 612,701 (+)	NCBI	ChiLan1.0	ChiLan1.0

PAFAH1B3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	48,401,972 - 48,407,301 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	50,270,609 - 50,275,893 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	39,184,734 - 39,190,522 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	133,455,270 - 133,455,822 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

PAFAH1B3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	112,078,131 - 112,080,874 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	112,063,074 - 112,080,873 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	111,504,270 - 111,507,037 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	112,690,772 - 112,693,507 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	112,676,028 - 112,693,506 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	112,244,948 - 112,247,717 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	111,880,891 - 111,883,654 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	112,807,432 - 112,810,199 (+)	NCBI		UU_Cfam_GSD_1.0

Pafah1b3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	15,849,621 - 15,868,155 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936706	212,096 - 215,497 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936706	212,635 - 215,498 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PAFAH1B3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	49,619,241 - 49,638,171 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	49,635,625 - 49,638,172 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	45,556,126 - 45,558,674 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PAFAH1B3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	36,501,726 - 36,508,027 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	36,501,314 - 36,507,846 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	14,747,530 - 14,753,859 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pafah1b3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624907	454,407 - 459,441 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624907	454,434 - 457,551 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PAFAH1B3
21 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	copy number gain	See cases [RCV000050636]	Chr19:37319377..42738688 [GRCh38] Chr19:37810279..43242840 [GRCh37] Chr19:42502119..47934680 [NCBI36] Chr19:19q13.12-13.2	pathogenic
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	copy number loss	See cases [RCV000053975]	Chr19:41930894..43141456 [GRCh38] Chr19:42514712..43645608 [GRCh37] Chr19:47126886..48337448 [NCBI36] Chr19:19q13.2-13.31	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
NM_001386298.1(CIC):c.6584G>A (p.Arg2195His)	single nucleotide variant	Dias-Logan syndrome [RCV003221766]	Chr19:42293653 [GRCh38] Chr19:42797805 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.469G>A (p.Glu157Lys)	single nucleotide variant	not specified [RCV004313689]	Chr19:42297305 [GRCh38] Chr19:42801457 [GRCh37] Chr19:19q13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Schizophrenia [RCV000754211]	Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31	likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.2(chr19:42803967-42812285)x1	copy number loss	not provided [RCV000849835]	Chr19:42803967..42812285 [GRCh37] Chr19:19q13.2	uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NC_000019.9:g.(?_39904727)_(42931301_?)dup	duplication	Diamond-Blackfan anemia [RCV003122291]\|MEGF8-related Carpenter syndrome [RCV003105286]\|Maple syrup urine disease [RCV003105287]\|TWIST1-related craniosynostosis [RCV003105285]	Chr19:39904727..42931301 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.285+6C>T	single nucleotide variant	not provided [RCV000898343]	Chr19:42300165 [GRCh38] Chr19:42804317 [GRCh37] Chr19:19q13.2	likely benign
NC_000019.10:g.42032860_42297536del	deletion	Syndromic craniosynostosis [RCV001374689]	Chr19:42032860..42297536 [GRCh38] Chr19:19q13.2	pathogenic
NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His)	single nucleotide variant	Autism spectrum disorder [RCV001291251]	Chr19:42297203 [GRCh38] Chr19:42801355 [GRCh37] Chr19:19q13.2	association
NM_002573.4(PAFAH1B3):c.232C>G (p.Gln78Glu)	single nucleotide variant	not specified [RCV004092638]	Chr19:42300224 [GRCh38] Chr19:42804376 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.523G>A (p.Asp175Asn)	single nucleotide variant	not specified [RCV004218739]	Chr19:42297251 [GRCh38] Chr19:42801403 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.389A>G (p.Gln130Arg)	single nucleotide variant	not specified [RCV004115481]	Chr19:42299989 [GRCh38] Chr19:42804141 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.277C>T (p.Arg93Trp)	single nucleotide variant	not specified [RCV004225885]	Chr19:42300179 [GRCh38] Chr19:42804331 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.175C>T (p.Arg59Cys)	single nucleotide variant	not specified [RCV004075503]	Chr19:42300281 [GRCh38] Chr19:42804433 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.55G>A (p.Gly19Ser)	single nucleotide variant	not specified [RCV004204696]	Chr19:42302255 [GRCh38] Chr19:42806407 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.166G>A (p.Glu56Lys)	single nucleotide variant	not specified [RCV004143742]	Chr19:42301952 [GRCh38] Chr19:42806104 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.619G>C (p.Ala207Pro)	single nucleotide variant	not specified [RCV004150872]	Chr19:42297155 [GRCh38] Chr19:42801307 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.616C>T (p.Arg206Trp)	single nucleotide variant	not specified [RCV004287315]	Chr19:42297158 [GRCh38] Chr19:42801310 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.448G>A (p.Glu150Lys)	single nucleotide variant	not specified [RCV004354013]	Chr19:42297326 [GRCh38] Chr19:42801478 [GRCh37] Chr19:19q13.2	uncertain significance
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 45 [RCV003447910]	Chr19:42292718 [GRCh38] Chr19:42796870 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_002573.4(PAFAH1B3):c.373A>T (p.Asn125Tyr)	single nucleotide variant	not specified [RCV004497845]	Chr19:42300005 [GRCh38] Chr19:42804157 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.30G>C (p.Lys10Asn)	single nucleotide variant	not specified [RCV004497843]	Chr19:42302280 [GRCh38] Chr19:42806432 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.335A>G (p.Gln112Arg)	single nucleotide variant	not specified [RCV004497844]	Chr19:42300043 [GRCh38] Chr19:42804195 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.242T>C (p.Leu81Pro)	single nucleotide variant	not specified [RCV004497842]	Chr19:42300214 [GRCh38] Chr19:42804366 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.617G>A (p.Arg206Gln)	single nucleotide variant	not specified [RCV004497846]	Chr19:42297157 [GRCh38] Chr19:42801309 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.446G>A (p.Arg149Gln)	single nucleotide variant	not specified [RCV004664013]	Chr19:42297328 [GRCh38] Chr19:42801480 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.479G>A (p.Arg160Gln)	single nucleotide variant	not specified [RCV004650705]	Chr19:42297295 [GRCh38] Chr19:42801447 [GRCh37] Chr19:19q13.2	uncertain significance
NM_002573.4(PAFAH1B3):c.458G>A (p.Arg153Gln)	single nucleotide variant	not specified [RCV004839044]	Chr19:42297316 [GRCh38] Chr19:42801468 [GRCh37] Chr19:19q13.2	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1682
Count of miRNA genes:	677
Interacting mature miRNAs:	771
Transcripts:	ENST00000262890, ENST00000538771, ENST00000594989, ENST00000595530, ENST00000596265, ENST00000597333, ENST00000599778, ENST00000601865
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

D19S674E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,801,278 - 42,801,419	UniSTS	GRCh37
Build 36	19	47,493,118 - 47,493,259	RGD	NCBI36
Celera	19	39,602,074 - 39,602,215	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	39,231,418 - 39,231,559	UniSTS

D19S691E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,806,317 - 42,806,418	UniSTS	GRCh37
Build 36	19	47,498,157 - 47,498,258	RGD	NCBI36
Celera	19	39,607,113 - 39,607,214	RGD
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	39,236,458 - 39,236,559	UniSTS

RH71329

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,801,313 - 42,801,470	UniSTS	GRCh37
Build 36	19	47,493,153 - 47,493,310	RGD	NCBI36
Celera	19	39,602,109 - 39,602,266	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	39,231,453 - 39,231,610	UniSTS
GeneMap99-GB4 RH Map	19	244.06	UniSTS
NCBI RH Map	19	464.3	UniSTS

NIB1825

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,801,200 - 42,801,468	UniSTS	GRCh37
Build 36	19	47,493,040 - 47,493,308	RGD	NCBI36
Celera	19	39,601,996 - 39,602,264	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	39,231,340 - 39,231,608	UniSTS
GeneMap99-GB4 RH Map	19	242.6	UniSTS
Whitehead-RH Map	19	318.1	UniSTS

STS-AA011180

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,801,203 - 42,801,396	UniSTS	GRCh37
Build 36	19	47,493,043 - 47,493,236	RGD	NCBI36
Celera	19	39,601,999 - 39,602,192	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	39,231,343 - 39,231,536	UniSTS
GeneMap99-GB4 RH Map	19	242.79	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2249	4971	1726	2349	5	624	1950	465	2269	7299	6465	52	3734	1	851	1743	1616	175	1


RefSeq Transcripts	NM_001145939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001145940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA432316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE048307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB216829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR407626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D63391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ900969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000262890 ⟹ ENSP00000262890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,297,035 - 42,302,624 (-)	Ensembl

Ensembl Acc Id:

ENST00000538771 ⟹ ENSP00000444935

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,297,033 - 42,302,777 (-)	Ensembl

Ensembl Acc Id:

ENST00000594989 ⟹ ENSP00000471933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,297,036 - 42,302,292 (-)	Ensembl

Ensembl Acc Id:

ENST00000595530 ⟹ ENSP00000473065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,297,280 - 42,302,770 (-)	Ensembl

Ensembl Acc Id:

ENST00000596265 ⟹ ENSP00000470753

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,297,316 - 42,302,728 (-)	Ensembl

Ensembl Acc Id:

ENST00000597333

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,299,917 - 42,302,496 (-)	Ensembl

Ensembl Acc Id:

ENST00000599778 ⟹ ENSP00000469352

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,300,171 - 42,303,546 (-)	Ensembl

Ensembl Acc Id:

ENST00000601865 ⟹ ENSP00000472950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	42,300,089 - 42,302,777 (-)	Ensembl

RefSeq Acc Id:

NM_001145939 ⟹ NP_001139411

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,035 - 42,302,624 (-)	NCBI
GRCh37	19	42,801,185 - 42,806,952 (-)	RGD
Celera	19	39,601,981 - 39,607,748 (-)	RGD
HuRef	19	39,231,325 - 39,237,093 (-)	RGD
CHM1_1	19	42,802,836 - 42,808,580 (-)	NCBI
T2T-CHM13v2.0	19	45,116,408 - 45,121,997 (-)	NCBI

Sequence:

show sequence

CTCCCTCCCCCCACCCCGTGCCGGGTGCGCGGCCTGGGAGTCAGCGGCCCGAGCGGGAAGCGCCGGGCGAGCCCACTGTGCGGCCGTCGTGGGGGAAGCGAAGGTTCCTGATTCCACCTACCTCCTAA
GTGAAGGCTTCCGTCCCTGGAGAGGAGGCGGCGCCCTGTATCGGCCTTCGTCCTCCGCGGGAGCTGCGGCGCCAAGATGAGTGGAGAGGAGAACCCAGCCAGCAAGCCCACGCCGGTGCAGGACGTAC
AGGGCGACGGGCGCTGGATGTCCCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCGGGGACTCCTTGGTCCAGCTCATGCACCAGTGCGAGATCTGGCGCGAG
CTCTTCTCTCCTCTGCATGCACTTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGGGAGCTGGAACACATCCGGCCCAAGATTGTGGTGGTCTGGGTGGGCAC
CAACAACCACGGACACACAGCAGAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGTGAATGAGCGACAGCCCCAGGCCCGGGTTGTGGTGCTGGGCCTGCTTCCGCGAGGCCAACATCCCA
ACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCAT
GACATGTATGATTACCTGCATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACC
CTAAGCATCCTGCTGCCTTCCCACAACATTAAACTCTCCTTCCTCAG

hide sequence

RefSeq Acc Id:

NM_001145940 ⟹ NP_001139412

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,033 - 42,302,800 (-)	NCBI
GRCh37	19	42,801,185 - 42,806,952 (-)	RGD
Celera	19	39,601,981 - 39,607,748 (-)	RGD
HuRef	19	39,231,325 - 39,237,093 (-)	RGD
CHM1_1	19	42,802,836 - 42,808,603 (-)	NCBI
T2T-CHM13v2.0	19	45,116,406 - 45,122,173 (-)	NCBI

Sequence:

show sequence

GTAGGTGGTCCCTTCCGCACATTTCACTCTGTACAGCAAATGGTTTCTTCCCATTTGCTAGACA
GAGGGCTAGATTTTCCCCGCCCACTCTCGACTCTTCAGGAGCTGCGGCGCCAAGATGAGTGGAGAGGAGAACCCAGCCAGCAAGCCCACGCCGGTGCAGGACGTACAGGGCGACGGGCGCTGGATGTC
CCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCGGGGACTCCTTGGTCCAGCTCATGCACCAGTGCGAGATCTGGCGCGAGCTCTTCTCTCCTCTGCATGCAC
TTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGGGAGCTGGAACACATCCGGCCCAAGATTGTGGTGGTCTGGGTGGGCACCAACAACCACGGACACACAGCA
GAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGTGAATGAGCGACAGCCCCAGGCCCGGGTTGTGGTGCTGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCG
ACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATC
TGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTTCCC
ACAACATTAAACTCTCCTTCCTCAGTGAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_002573 ⟹ NP_002564

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,035 - 42,302,624 (-)	NCBI
GRCh37	19	42,801,185 - 42,806,952 (-)	RGD
Build 36	19	47,493,025 - 47,498,563 (-)	NCBI Archive
Celera	19	39,601,981 - 39,607,748 (-)	RGD
HuRef	19	39,231,325 - 39,237,093 (-)	RGD
CHM1_1	19	42,802,836 - 42,808,447 (-)	NCBI
T2T-CHM13v2.0	19	45,116,408 - 45,121,997 (-)	NCBI

Sequence:

show sequence

CTCCCTCCCCCCACCCCGTGCCGGGTGCGCGGCCTGGGAGTCAGCGGCCCGAGCGGGAAGCGCC
GGGCGAGCCCACTGTGCGGCCGTCGTGGGGGAAGCGAAGGTTCCTGATTCCACCTACCTCCTAAGTGAAGGCTTCCGTCCCTGGAGAGGAGGCGGCGCCCTGTATCGGCCTTCGTCCTCCGCGGGTGT
GCTAGCGTTGGGACGGTCCTTTGTTGCCGCGAGGGGTAGGAGTGGGCGTGGCGGAGCCAGCTCCGTTCGGAACACTCCCGGGCCGACCCGACTCGCTCATCCTGCAGGAGCTGCGGCGCCAAGATGAG
TGGAGAGGAGAACCCAGCCAGCAAGCCCACGCCGGTGCAGGACGTACAGGGCGACGGGCGCTGGATGTCCCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCG
GGGACTCCTTGGTCCAGCTCATGCACCAGTGCGAGATCTGGCGCGAGCTCTTCTCTCCTCTGCATGCACTTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGG
GAGCTGGAACACATCCGGCCCAAGATTGTGGTGGTCTGGGTGGGCACCAACAACCACGGACACACAGCAGAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGTGAATGAGCGACAGCCCCA
GGCCCGGGTTGTGGTGCTGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCACCCTCGGGCCCACTTCCTAG
ATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTG
CTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTTCCCACAACATTAAACTCTCCTTCCTCAG

hide sequence

RefSeq Acc Id:

XM_017026846 ⟹ XP_016882335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,033 - 42,302,624 (-)	NCBI

Sequence:

show sequence

GTGAAGGCTTCCGTCCCTGGAGAGGAGGCGGCGCCCTGTATCGGCCTTCGTCCTCCGCGGGTGTGCTAGCGTTGGGACGGTCCTTTGTTGCCGCGAGGGGTAGGAGTGGGCGTGGCGGAGCCAGCTCC
GTTCGGAACACTCCCGGGCCGACCCGACTCGCTCATCCTGCAGGAGCTGCGGCGCCAAGATGAGTGGAGAGGAGAACCCAGCCAGCAAGCCCACGCCGGTGCAGGACGTACAGGGCGACGGGCGCTGG
ATGTCCCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCGGGGACTCCTTGGTCCAGCTCATGCACCAGTGCGAGATCTGGCGCGAGCTCTTCTCTCCTCTGCA
TGCACTTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGGGAGCTGGAACACATCCGGCCCAAGATTGTGGTGGTCTGGGTGGGCACCAACAACCACGGACACA
CAGCAGAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCT
GGCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGC
TCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTTCCCACAACATTAAACTCTCCTTCCTCAGTG

hide sequence

RefSeq Acc Id:

XM_017026847 ⟹ XP_016882336

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,033 - 42,302,624 (-)	NCBI

Sequence:

show sequence

CTGTACAGCAAATGGTTTCTTCCCATTTGCTAGACAGAGGGCTAGATTTTCCCCGCCCACTCTCGACTCTTCAGGTAGTTCGCCCCTCCCCGTGACCGGTGGGTGGTTTCTCCCTCCTCCCCGCCTCG
GGAGCTGGATGGTCTCGCCTCTCCCTCCCCCCACCCCGTGCCGGGTGCGCGGCCTGGGAGTCAGCGGCCCGAGCGGGAAGCGCCGGGCGAGCCCACTGTGCGGCCGTCGTGGGGGAAGCGAAGGTTCC
TGATTCCACCTACCTCCTAAGTGAAGGCTTCCGTCCCTGGAGAGGAGGCGGCGCCCTGTATCGGCCTTCGTCCTCCGCGGGAGCTGCGGCGCCAAGATGAGTGGAGAGGAGAACCCAGCCAGCAAGCC
CACGCCGGTGCAGGACGTACAGGGCGACGGGCGCTGGATGTCCCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCGGGGACTCCTTGGTCCAGCTCATGCACC
AGTGCGAGATCTGGCGCGAGCTCTTCTCTCCTCTGCATGCACTTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGGGAGCTGGAACACATCCGGCCCAAGATT
GTGGTGGTCTGGGTGGGCACCAACAACCACGGACACACAGCAGAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAA
CCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGC
ATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTT
CCCACAACATTAAACTCTCCTTCCTCAGTG

hide sequence

RefSeq Acc Id:

XM_017026848 ⟹ XP_016882337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,297,033 - 42,302,800 (-)	NCBI

Sequence:

show sequence

GTAGGTGGTCCCTTCCGCACATTTCACTCTGTACAGCAAATGGTTTCTTCCCATTTGCTAGACA
GAGGGCTAGATTTTCCCCGCCCACTCTCGACTCTTCAGGAGCTGCGGCGCCAAGATGAGTGGAGAGGAGAACCCAGCCAGCAAGCCCACGCCGGTGCAGGACGTACAGGGCGACGGGCGCTGGATGTC
CCTGCACCATCGGTTCGTGGCTGACAGCAAAGATAAGGAACCCGAAGTCGTCTTCATCGGGGACTCCTTGGTCCAGCTCATGCACCAGTGCGAGATCTGGCGCGAGCTCTTCTCTCCTCTGCATGCAC
TTAACTTTGGCATTGGTGGTGACGGCACACAGCATGTACTGTGGCGGCTGGAGAATGGGGAGCTGGAACACATCCGGCCCAAGATTGTGGTGGTCTGGGTGGGCACCAACAACCACGGACACACAGCA
GAGCAGGTGACTGGTGGCATCAAGGCCATTGTGCAACTGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCA
CCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGC
ACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTTCCCACAACATTAAACTCTCCTTCCTCAGTG

hide sequence

RefSeq Acc Id:

XM_054321129 ⟹ XP_054177104

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	45,116,406 - 45,121,997 (-)	NCBI

RefSeq Acc Id:

XM_054321130 ⟹ XP_054177105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	45,116,406 - 45,121,997 (-)	NCBI

RefSeq Acc Id:

XM_054321131 ⟹ XP_054177106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	45,116,406 - 45,122,173 (-)	NCBI


Protein RefSeqs	NP_001139411	(Get FASTA)	NCBI Sequence Viewer
	NP_001139412	(Get FASTA)	NCBI Sequence Viewer
	NP_002564	(Get FASTA)	NCBI Sequence Viewer
	XP_016882335	(Get FASTA)	NCBI Sequence Viewer
	XP_016882336	(Get FASTA)	NCBI Sequence Viewer
	XP_016882337	(Get FASTA)	NCBI Sequence Viewer
	XP_054177104	(Get FASTA)	NCBI Sequence Viewer
	XP_054177105	(Get FASTA)	NCBI Sequence Viewer
	XP_054177106	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD11989	(Get FASTA)	NCBI Sequence Viewer
	AAH03016	(Get FASTA)	NCBI Sequence Viewer
	AAH07863	(Get FASTA)	NCBI Sequence Viewer
	ADO22486	(Get FASTA)	NCBI Sequence Viewer
	BAA09706	(Get FASTA)	NCBI Sequence Viewer
	CAG28554	(Get FASTA)	NCBI Sequence Viewer
	EAW57122	(Get FASTA)	NCBI Sequence Viewer
	EAW57123	(Get FASTA)	NCBI Sequence Viewer
	EAW57124	(Get FASTA)	NCBI Sequence Viewer
	EAW57125	(Get FASTA)	NCBI Sequence Viewer
	EAW57126	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000262890
	ENSP00000262890.2
	ENSP00000444935
	ENSP00000444935.1
	ENSP00000471933
GenBank Protein	Q15102	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_002564 ⟸ NM_002573

- UniProtKB:

Q53X88 (UniProtKB/Swiss-Prot), Q15102 (UniProtKB/Swiss-Prot), A0A024R0L6 (UniProtKB/TrEMBL), M0R1K3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLVNERQ
PQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP

hide sequence

RefSeq Acc Id:

NP_001139412 ⟸ NM_001145940

- UniProtKB:

Q53X88 (UniProtKB/Swiss-Prot), Q15102 (UniProtKB/Swiss-Prot), A0A024R0L6 (UniProtKB/TrEMBL), M0R1K3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLVNERQ
PQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP

hide sequence

RefSeq Acc Id:

NP_001139411 ⟸ NM_001145939

- UniProtKB:

Q53X88 (UniProtKB/Swiss-Prot), Q15102 (UniProtKB/Swiss-Prot), A0A024R0L6 (UniProtKB/TrEMBL), M0R1K3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLVNERQ
PQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP

hide sequence

RefSeq Acc Id:	XP_016882337 ⟸ XM_017026848
- Peptide Label:	isoform X1
- UniProtKB:	M0R1K3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLGLLPR GQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP hide sequence

RefSeq Acc Id:	XP_016882336 ⟸ XM_017026847
- Peptide Label:	isoform X1
- UniProtKB:	M0R1K3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLGLLPR GQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP hide sequence

Protein Domains

SGNH hydrolase-type esterase

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15102-F1-model_v2	AlphaFold	Q15102	1-231	view protein structure

RGD ID:

7240183

Promoter ID:

EPDNEW_H25834

Type:

initiation region

Name:

PAFAH1B3_2

Description:

platelet activating factor acetylhydrolase 1b catalytic subunit3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25836

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,302,334 - 42,302,394	EPDNEW

RGD ID:

7240179

Promoter ID:

EPDNEW_H25836

Type:

initiation region

Name:

PAFAH1B3_1

Description:

platelet activating factor acetylhydrolase 1b catalytic subunit3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25834

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,302,607 - 42,302,667	EPDNEW

RGD ID:

6795870

Promoter ID:

HG_KWN:30082

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

NM_001145939, NM_001145940, NM_002573

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	47,498,316 - 47,498,816 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	PAFAH1B3	COSMIC
Ensembl Genes	ENSG00000079462	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000262890	ENTREZGENE
	ENST00000262890.8	UniProtKB/Swiss-Prot
	ENST00000538771	ENTREZGENE
	ENST00000538771.5	UniProtKB/Swiss-Prot
	ENST00000594989	ENTREZGENE
Gene3D-CATH	3.40.50.1110	UniProtKB/Swiss-Prot
GTEx	ENSG00000079462	GTEx
HGNC ID	HGNC:8576	ENTREZGENE
Human Proteome Map	PAFAH1B3	Human Proteome Map
InterPro	SGNH_hydro	UniProtKB/Swiss-Prot
	SGNH_hydro_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:5050	UniProtKB/Swiss-Prot
NCBI Gene	5050	ENTREZGENE
OMIM	603074	OMIM
PANTHER	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE	UniProtKB/Swiss-Prot
	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB SUBUNIT ALPHA1	UniProtKB/Swiss-Prot
Pfam	Lipase_GDSL_2	UniProtKB/Swiss-Prot
PharmGKB	PA32907	PharmGKB
Superfamily-SCOP	SGNH hydrolase	UniProtKB/Swiss-Prot
UniProt	A0A024R0L6	ENTREZGENE, UniProtKB/TrEMBL
	M0QXS6_HUMAN	UniProtKB/TrEMBL
	M0QZT2_HUMAN	UniProtKB/TrEMBL
	M0R1K3	ENTREZGENE, UniProtKB/TrEMBL
	M0R323_HUMAN	UniProtKB/TrEMBL
	M0R389_HUMAN	UniProtKB/TrEMBL
	PA1B3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q53X88	ENTREZGENE
UniProt Secondary	Q53X88	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	PAFAH1B3	platelet activating factor acetylhydrolase 1b catalytic subunit 3	PAFAH1B3	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	Symbol and/or name change	5135510	APPROVED
2011-07-27	PAFAH1B3	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	PAFAH1B3	platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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