EuRBPDB

Description

Ensembl ID: ENSG00000239900 (Gene tree)
Gene ID: 158
Gene Symbol: ADSL
Alias: N
Full Name: adenylosuccinate lyase
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 43,964 bases
Position: chr22:40,346,500-40,390,463
Accession: 291
RBP type: non-canonical RBP
Summary: The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
21443014	[Differential protein analysis on the root response of rice with high phosphorous uptake efficiency to low phosphorous stress].	Ying Yong Sheng Tai Xue Bao	2010 Dec	Guo YC	-

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000637669	ADSL-222	1927	-	ENSP00000489728	480 (aa)	-	A0A1B0GTJ7
ENST00000636433	ADSL-219	1444	-	-	- (aa)	-	-
ENST00000637666	ADSL-221	1135	-	ENSP00000489696	377 (aa)	-	A0A1B0GTG9
ENST00000342312	ADSL-202	1808	XM_011529980	ENSP00000341429	425 (aa)	XP_011528282	P30566
ENST00000623287	ADSL-209	856	-	ENSP00000485437	149 (aa)	-	A0A096LP72
ENST00000636265	ADSL-218	1239	-	ENSP00000490909	403 (aa)	-	A0A1B0GWF8
ENST00000623387	ADSL-210	620	-	-	- (aa)	-	-
ENST00000636124	ADSL-217	280	-	-	- (aa)	-	-
ENST00000624474	ADSL-214	678	-	ENSP00000485286	164 (aa)	-	A0A096LNY4
ENST00000636714	ADSL-220	1734	XM_011529979	ENSP00000490946	480 (aa)	XP_011528281	A0A1B0GWJ0
ENST00000624027	ADSL-213	732	-	ENSP00000485202	81 (aa)	-	A0A096LNT0
ENST00000625194	ADSL-216	1079	XM_017028638	ENSP00000485289	360 (aa)	XP_016884127	A0A096LNY6
ENST00000466863	ADSL-204	686	-	-	- (aa)	-	-
ENST00000623063	ADSL-208	4359	XM_011529977	ENSP00000485525	484 (aa)	XP_011528279	P30566
ENST00000480775	ADSL-206	713	-	ENSP00000485462	78 (aa)	-	A0A096LP92
ENST00000623978	ADSL-212	712	-	ENSP00000485477	133 (aa)	-	A0A096LPA2
ENST00000624503	ADSL-215	754	-	ENSP00000485073	127 (aa)	-	B4DEP1
ENST00000623632	ADSL-211	847	-	ENSP00000485288	262 (aa)	-	A0A096LNY5
ENST00000423176	ADSL-203	728	-	ENSP00000485443	102 (aa)	-	A0A096LP76
ENST00000216194	ADSL-201	1620	XM_017028637	ENSP00000216194	498 (aa)	XP_016884126	A0A0A6YY92
ENST00000498234	ADSL-207	323	-	ENSP00000476535	57 (aa)	-	V9GY96
ENST00000638161	ADSL-223	668	-	-	- (aa)	-	-
ENST00000477111	ADSL-205	826	-	-	- (aa)	-	-

Gene Model

Pathways

Pathway ID	Pathway Name	Source
hsa00230	Purine metabolism	KEGG
hsa00250	Alanine, aspartate and glutamate metabolism	KEGG
hsa01100	Metabolic pathways	KEGG

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000239900	rs17001868	22	40382227	A	Mammographic density (dense area)	25342443	[0.12-0.24] unit decrease	0.18	EFO_0006503\|EFO_0005941
ENSG00000239900	rs17001868	22	40382227	?	Breast size	29855537			EFO_0004884

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000239900	ADSL	98	67.939	YLR359W	ADE13	98	64.255	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0001666	response to hypoxia	-	IEA	Process
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	21873635.	IBA	Function
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	16973378.	IDA	Function
GO:0005829	cytosol	-	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0006164	purine nucleotide biosynthetic process	10888601.	IC	Process
GO:0006167	AMP biosynthetic process	11428554.	IDA	Process
GO:0006189	'de novo' IMP biosynthetic process	-	IEA	Process
GO:0007584	response to nutrient	-	IEA	Process
GO:0009060	aerobic respiration	-	IEA	Process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	-	TAS	Process
GO:0014850	response to muscle activity	-	IEA	Process
GO:0042594	response to starvation	-	IEA	Process
GO:0044208	'de novo' AMP biosynthetic process	21873635.	IBA	Process
GO:0044208	'de novo' AMP biosynthetic process	-	IEA	Process
GO:0051262	protein tetramerization	16973378.	IDA	Process
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	21873635.	IBA	Function