EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000130707 (Gene tree)
Gene ID: 445
Gene Symbol: ASS1
Alias: CTLN1|ASS
Full Name: argininosuccinate synthase 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 56,568 bases
Position: chr9:130,444,707-130,501,274
Accession: 758
RBP type: non-canonical RBP
Summary: The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
22658674	Insights into RNA biology from an atlas of mammalian mRNA-binding proteins	RIC & Hela	2012 May 31	Castello A	DOI: 10.1016/j.cell.2012.04.031
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000372393	ASS1-203	1548	XM_011518705	ENSP00000361469	412 (aa)	XP_011517007	P00966
ENST00000422569	ASS1-205	807	-	ENSP00000394212	198 (aa)	-	Q5T6L6
ENST00000352480	ASS1-201	1564	XM_005272200	ENSP00000253004	412 (aa)	XP_005272257	P00966
ENST00000372386	ASS1-202	667	-	-	- (aa)	-	-
ENST00000443588	ASS1-206	545	-	ENSP00000397785	179 (aa)	-	Q5T6L5
ENST00000372394	ASS1-204	1973	-	ENSP00000361471	412 (aa)	-	P00966
ENST00000470849	ASS1-208	652	-	-	- (aa)	-	-
ENST00000492400	ASS1-209	444	-	-	- (aa)	-	-
ENST00000493984	ASS1-210	687	-	-	- (aa)	-	-
ENST00000467695	ASS1-207	580	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000130707's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa00220	Arginine biosynthesis	KEGG
hsa00250	Alanine, aspartate and glutamate metabolism	KEGG
hsa01100	Metabolic pathways	KEGG
hsa01230	Biosynthesis of amino acids	KEGG
hsa05418	Fluid shear stress and atherosclerosis	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000130707	Lipoprotein(a)	6.5240000E-005	-

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000130707's network

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

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000050	urea cycle	21873635.	IBA	Process
GO:0000050	urea cycle	-	IEA	Process
GO:0000050	urea cycle	7977368.8792870.18473344.27287393.	IMP	Process
GO:0000050	urea cycle	-	TAS	Process
GO:0000052	citrulline metabolic process	7977368.	IMP	Process
GO:0000053	argininosuccinate metabolic process	21873635.	IBA	Process
GO:0000053	argininosuccinate metabolic process	7977368.	IMP	Process
GO:0001822	kidney development	-	IEA	Process
GO:0001889	liver development	-	IEA	Process
GO:0003723	RNA binding	22658674.	HDA	Function
GO:0004055	argininosuccinate synthase activity	21873635.	IBA	Function
GO:0004055	argininosuccinate synthase activity	7977368.8792870.18473344.27287393.28985504.	IMP	Function
GO:0005515	protein binding	12620389.17496144.28985504.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005634	nucleus	-	IEA	Component
GO:0005737	cytoplasm	21873635.	IBA	Component
GO:0005741	mitochondrial outer membrane	-	IEA	Component
GO:0005764	lysosome	-	IEA	Component
GO:0005783	endoplasmic reticulum	-	IEA	Component
GO:0005829	cytosol	28985504.	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0006526	arginine biosynthetic process	21873635.	IBA	Process
GO:0006526	arginine biosynthetic process	-	IEA	Process
GO:0006526	arginine biosynthetic process	8792870.18473344.27287393.	IMP	Process
GO:0006531	aspartate metabolic process	7977368.	IMP	Process
GO:0006953	acute-phase response	-	IEA	Process
GO:0007494	midgut development	-	IEA	Process
GO:0007568	aging	-	IEA	Process
GO:0007584	response to nutrient	-	IEA	Process
GO:0007623	circadian rhythm	28985504.	IDA	Process
GO:0010043	response to zinc ion	-	IEA	Process
GO:0010046	response to mycotoxin	-	IEA	Process
GO:0015643	toxic substance binding	-	IEA	Function
GO:0016597	amino acid binding	7977368.	IMP	Function
GO:0032355	response to estradiol	-	IEA	Process
GO:0042802	identical protein binding	16189514.21988832.25416956.	IPI	Function
GO:0043204	perikaryon	-	IEA	Component
GO:0045429	positive regulation of nitric oxide biosynthetic process	21106532.	IMP	Process
GO:0060416	response to growth hormone	-	IEA	Process
GO:0060539	diaphragm development	-	IEA	Process
GO:0070062	extracellular exosome	19056867.23533145.	HDA	Component
GO:0070852	cell body fiber	-	IEA	Component
GO:0071222	cellular response to lipopolysaccharide	-	IEA	Process
GO:0071230	cellular response to amino acid stimulus	-	IEA	Process
GO:0071242	cellular response to ammonium ion	-	IEA	Process
GO:0071320	cellular response to cAMP	-	IEA	Process
GO:0071346	cellular response to interferon-gamma	-	IEA	Process
GO:0071356	cellular response to tumor necrosis factor	-	IEA	Process
GO:0071377	cellular response to glucagon stimulus	-	IEA	Process
GO:0071400	cellular response to oleic acid	-	IEA	Process
GO:0071418	cellular response to amine stimulus	-	IEA	Process
GO:0071499	cellular response to laminar fluid shear stress	21106532.	IMP	Process
GO:0071549	cellular response to dexamethasone stimulus	-	IEA	Process
GO:1903038	negative regulation of leukocyte cell-cell adhesion	21106532.	IMP	Process

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
14570901	Glutamine stimulates argininosuccinate synthetase gene expression through cytosolic O-glycosylation of Sp1 in Caco-2 cells.	J Biol Chem	2003 Dec 26	Brasse-Lagnel C	-
23549872	ASS1 as a novel tumor suppressor gene in myxofibrosarcomas: aberrant loss via epigenetic DNA methylation confers aggressive phenotypes, negative prognostic impact, and therapeutic relevance.	Clin Cancer Res	2013 Jun 1	Huang HY	doi: 10.1158/1078-0432.CCR-12-2641
17354225	Aberrant regulation of argininosuccinate synthetase by TNF-alpha in human epithelial ovarian cancer.	Int J Cancer	2007 Jul 1	Szlosarek PW	-
19533750	Epigenetic silencing of argininosuccinate synthetase confers resistance to platinum-induced cell death but collateral sensitivity to arginine auxotrophy in ovarian cancer.	Int J Cancer	2009 Sep 15	Nicholson LJ	doi: 10.1002/ijc.24546.
24692592	Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.	Sci Signal	2014 Apr 1	Qiu F	doi: 10.1126/scisignal.2004761.
25333458	Increased expression of argininosuccinate synthetase protein predicts poor prognosis in human gastric cancer.	Oncol Rep	2015 Jan	Shan YS	doi: 10.3892/or.2014.3556
29401583	Argininosuccinate synthetase 1 contributes to gastric cancer invasion and progression by modulating autophagy.	FASEB J	2018 May	Tsai CY	doi: 10.1096/fj.201700094R

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr9	130466736	Silent	novel	P144P	0.36
BLCA	chr9	130470902	Missense_Mutation	novel	I188M	0.9
BLCA	chr9	130494958	Silent	rs763822587	L354L	0.29
BLCA	chr9	130489439	Missense_Mutation	NA	L315F	0.08
BLCA	chr9	130501097	3'UTR	novel		0.19
BRCA	chr9	130480447	Missense_Mutation	novel	R279P	0.34
BRCA	chr9	130501169	3'UTR	novel		0.35
BRCA	chr9	130470905	Splice_Site	NA	X189_splice	0.21
CESC	chr9	130451771	Intron	novel		0.55
CESC	chr9	130451835	Intron	novel		0.38
CESC	chr9	130494984	Missense_Mutation	rs771937610	R363Q	0.3
COAD	chr9	130471482	Splice_Region	novel		0.43
COAD	chr9	130458548	Missense_Mutation	rs143405567	R108W	0.5
COAD	chr9	130464154	Frame_Shift_Del	novel	*Q138Rfs2**	0.18
COAD	chr9	130489350	Missense_Mutation	NA	A286T	0.36
COAD	chr9	130489340	Silent	rs549085827	Y282Y	0.46
COAD	chr9	130466744	Missense_Mutation	novel	M147T	0.45
COAD	chr9	130458511	Silent	novel	R95R	0.13
COAD	chr9	130489413	Missense_Mutation	rs183276875	R307C	0.33
COAD	chr9	130494904	Silent	NA	H336H	0.2
COAD	chr9	130464154	Frame_Shift_Del	novel	*Q138Rfs2**	0.19
ESCA	chr9	130476919	Missense_Mutation	novel	A216T	0.48
ESCA	chr9	130501221	3'UTR	novel		0.5
GBM	chr9	130466793	Silent	rs377319610	Y163Y	0.39
GBM	chr9	130458535	Silent	novel	V103V	0.48
HNSC	chr9	130458545	Nonsense_Mutation	novel	Q107*	0.27
HNSC	chr9	130501079	3'UTR	rs183494785		0.11
HNSC	chr9	130471510	Missense_Mutation	novel	P198S	0.33
KIRC	chr9	130458416	Missense_Mutation	NA	V64F	0.36
KIRC	chr9	130458484	Silent	NA	R86R	0.31
LAML	chr9	130489459	Missense_Mutation	rs373473841	Y322C	0.13
LGG	chr9	130480425	Missense_Mutation	rs762387914	R272C	0.39
LGG	chr9	130501121	3'UTR	novel		0.48
LGG	chr9	130501026	3'UTR	novel		0.1
LGG	chr9	130458575	Missense_Mutation	rs770944877	G117S	0.16
LIHC	chr9	130479737	Missense_Mutation	rs565520844	N237S	0.58
LIHC	chr9	130452292	Missense_Mutation	rs762279472	V22L	0.51
LIHC	chr9	130458530	Missense_Mutation	novel	Q102E	0.32
LUAD	chr9	130500993	Missense_Mutation	rs752612525	R404H	0.1
LUAD	chr9	130489337	Missense_Mutation	NA	I281M	0.35
LUAD	chr9	130479892	Intron	novel		0.2
LUAD	chr9	130458479	Missense_Mutation	NA	D85Y	0.15
LUAD	chr9	130466735	Missense_Mutation	novel	P144R	0.13
LUAD	chr9	130480413	Frame_Shift_Ins	novel	*I268Sfs52**	0.08
LUAD	chr9	130501044	3'UTR	novel		0.16
LUSC	chr9	130479779	Missense_Mutation	novel	F251S	0.26
LUSC	chr9	130458400	Splice_Site	novel	X59_splice	0.73
LUSC	chr9	130499511	Missense_Mutation	novel	N378K	0.07
LUSC	chr9	130489431	Missense_Mutation	novel	L313M	0.04
LUSC	chr9	130479755	Missense_Mutation	novel	T243N	0.12
OV	chr9	130501017	Missense_Mutation	NA	K412T	0.35
OV	chr9	130470866	Silent	novel	K176K	0.1
OV	chr9	130458548	Missense_Mutation	rs143405567	R108W	0.37
PAAD	chr9	130479801	Splice_Site	novel	X258_splice	0.08
READ	chr9	130476910	Missense_Mutation	novel	P213A	0.1
READ	chr9	130476912	Silent	novel	P213P	0.09
READ	chr9	130470872	Silent	rs113818350	P178P	0.56
READ	chr9	130479744	Missense_Mutation	NA	K239N	0.33
SARC	chr9	130494937	Silent	novel	G347G	0.38
SARC	chr9	130479798	Splice_Region	rs547904731	V257V	0.39
SKCM	chr9	130466741	Missense_Mutation	NA	R146K	0.32
SKCM	chr9	130458478	Silent	novel	E84E	0.24
SKCM	chr9	130466779	Missense_Mutation	novel	D159N	0.71
SKCM	chr9	130458536	Missense_Mutation	NA	E104K	0.33
SKCM	chr9	130458571	Silent	NA	S115S	0.17
SKCM	chr9	130464126	Missense_Mutation	rs771794639	R127W	0.13
SKCM	chr9	130494923	Missense_Mutation	NA	E343K	0.6
SKCM	chr9	130464112	Missense_Mutation	NA	G122E	0.3
SKCM	chr9	130499565	Silent	novel	S396S	0.28
SKCM	chr9	130476949	Missense_Mutation	rs761813681	E226K	0.35
SKCM	chr9	130480435	Missense_Mutation	NA	G275E	0.82
SKCM	chr9	130470882	Missense_Mutation	novel	D182N	0.21
SKCM	chr9	130494919	Silent	novel	S341S	0.59
SKCM	chr9	130458547	Silent	NA	Q107Q	0.42
SKCM	chr9	130471501	Silent	NA	L195L	0.65
SKCM	chr9	130494931	Silent	NA	V345V	0.37
SKCM	chr9	130494918	Missense_Mutation	NA	S341F	0.33
SKCM	chr9	130501169	3'UTR	novel		0.5
SKCM	chr9	130489385	Silent	rs200900381	I297I	0.1
SKCM	chr9	130458424	Silent	rs747885215	R66R	0.22
SKCM	chr9	130480415	Silent	rs773540764	I268I	0.13
SKCM	chr9	130480386	Missense_Mutation	NA	G259S	0.45
SKCM	chr9	130454323	Missense_Mutation	novel	E42K	0.41
SKCM	chr9	130479745	Missense_Mutation	NA	D240N	0.21
SKCM	chr9	130479863	Intron	novel		0.45
SKCM	chr9	130489341	Missense_Mutation	rs765338121	E283K	0.28
SKCM	chr9	130454331	Silent	rs761408245	F44F	0.17
STAD	chr9	130479731	Missense_Mutation	NA	V235A	0.19
STAD	chr9	130480425	Missense_Mutation	rs762387914	R272C	0.14
STAD	chr9	130464153	Frame_Shift_Ins	novel	*Q138Pfs12**	0.32
STAD	chr9	130480405	Missense_Mutation	rs398123131	R265H	0.29
STAD	chr9	130479732	Silent	novel	V235V	0.07
STAD	chr9	130479799	Missense_Mutation	rs765748014	A258T	0.27
STAD	chr9	130454368	Frame_Shift_Del	novel	*K58Rfs82**	0.31
STAD	chr9	130476943	Missense_Mutation	rs764331417	E224K	0.27
STAD	chr9	130501079	3'UTR	rs183494785		0.12
STAD	chr9	130466761	Missense_Mutation	rs576636333	R153W	0.09
STAD	chr9	130479749	Missense_Mutation	NA	G241D	0.15
STAD	chr9	130464121	Missense_Mutation	NA	Q125R	0.18
UCEC	chr9	130499529	Silent	novel	E384E	0.26
UCEC	chr9	130450320	Intron	rs184403245		0.34
UCEC	chr9	130501196	3'UTR	novel		0.36
UCEC	chr9	130450304	Intron	novel		0.48
UCEC	chr9	130466741	Missense_Mutation	NA	R146K	0.4
UCEC	chr9	130489353	Missense_Mutation	novel	G287C	0.42
UCEC	chr9	130451942	Intron	novel		0.23
UCEC	chr9	130452296	Missense_Mutation	novel	W23L	0.08
UCEC	chr9	130454331	Silent	rs761408245	F44F	0.33
UCEC	chr9	130501115	3'UTR	novel		0.11
UCEC	chr9	130494952	Silent	rs766889925	S352S	0.38
UCEC	chr9	130476879	Silent	rs747850211	A202A	0.41
UCEC	chr9	130450329	Intron	novel		0.32
UCEC	chr9	130494875	Missense_Mutation	NA	H327Y	0.39
UCEC	chr9	130501079	3'UTR	rs183494785		0.5
UCEC	chr9	130466774	Missense_Mutation	rs121908637	R157H	0.26
UCEC	chr9	130451729	Intron	novel		0.32
UCEC	chr9	130450323	Intron	novel		0.27
UCEC	chr9	130458483	Missense_Mutation	rs575001023	R86H	0.45
UCEC	chr9	130454331	Silent	rs761408245	F44F	0.41
UCEC	chr9	130458420	Missense_Mutation	novel	S65N	0.4
UCEC	chr9	130452304	Missense_Mutation	rs766668660	E26K	0.42
UCEC	chr9	130451725	Intron	novel		0.45
UCEC	chr9	130458460	Silent	rs759383629	Q78Q	0.3
UCEC	chr9	130450308	Intron	novel		0.25
UCEC	chr9	130451756	Intron	novel		0.4
UCEC	chr9	130494874	Nonsense_Mutation	NA	W326*	0.32
UCEC	chr9	130489330	Splice_Region	novel		0.28
UCEC	chr9	130451973	Intron	novel		0.51
UCEC	chr9	130476900	Missense_Mutation	novel	K209N	0.2
UCEC	chr9	130489390	Missense_Mutation	novel	A299V	0.49
UCEC	chr9	130458406	Missense_Mutation	novel	F60L	0.34
UCEC	chr9	130494899	Missense_Mutation	rs373514077	R335C	0.28

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
BRCA	DEL	0.2074	0.070727
LAML	DEL	0.0105	0.24147
LGG	AMP	0.0604	0.21332
LIHC	DEL	0.2541	0.12467
OV	DEL	0.5527	2.9521e-06
THCA	DEL	0.0401	0.24038
THYM	DEL	0.0163	0.022012
UCEC	DEL	0.2208	0.0022334
UCS	DEL	0.6071	0.089783

Survival Analysis

Cancer	P-value	Q-value
THYM	0.021	Kaplan-Meier Survival Analysis
STAD	0.0079	Kaplan-Meier Survival Analysis
MESO	0.0063	Kaplan-Meier Survival Analysis
ACC	0.0093	Kaplan-Meier Survival Analysis
UCS	0.046	Kaplan-Meier Survival Analysis
HNSC	0.031	Kaplan-Meier Survival Analysis
PAAD	0.011	Kaplan-Meier Survival Analysis
BLCA	0.01	Kaplan-Meier Survival Analysis
CESC	0.018	Kaplan-Meier Survival Analysis
LAML	0.01	Kaplan-Meier Survival Analysis
UCEC	0.00011	Kaplan-Meier Survival Analysis
LIHC	0.032	Kaplan-Meier Survival Analysis
DLBC	0.046	Kaplan-Meier Survival Analysis
LGG	0.017	Kaplan-Meier Survival Analysis
UVM	0.00011	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

PPI

Gene Ontology

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742