AiPD: Autoinhibited Protein Database

Q07020

Gene name	RPL18
Protein name	60S ribosomal protein L18
Names	Large ribosomal subunit protein eL18
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6141
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

126-188 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

126-188 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

97 structures for Q07020

Entry ID	Method	Resolution	Chain	Position	Source
4UG0	EM	-	LQ	1-188	PDB
4V6X	EM	500 A	CQ	1-188	PDB
5AJ0	EM	350 A	AQ	1-188	PDB
5LKS	EM	360 A	LQ	1-188	PDB
5T2C	EM	360 A	K	1-188	PDB
6IP5	EM	390 A	2K	1-188	PDB
6IP6	EM	450 A	2K	1-188	PDB
6IP8	EM	390 A	2K	1-188	PDB
6LQM	EM	309 A	Z	1-188	PDB
6LSR	EM	313 A	Z	1-188	PDB
6LSS	EM	323 A	Z	1-188	PDB
6LU8	EM	313 A	Z	1-188	PDB
6OLE	EM	310 A	R	2-188	PDB
6OLF	EM	390 A	R	2-188	PDB
6OLG	EM	340 A	AQ	2-188	PDB
6OLI	EM	350 A	R	2-188	PDB
6OLZ	EM	390 A	AQ	2-188	PDB
6OM0	EM	310 A	R	2-188	PDB
6OM7	EM	370 A	R	2-188	PDB
6QZP	EM	290 A	LQ	2-188	PDB
6W6L	EM	384 A	R	1-188	PDB
6XA1	EM	280 A	LQ	2-188	PDB
6Y0G	EM	320 A	LQ	1-188	PDB
6Y2L	EM	300 A	LQ	1-188	PDB
6Y57	EM	350 A	LQ	1-188	PDB
6Y6X	EM	280 A	LQ	2-188	PDB
6Z6L	EM	300 A	LQ	1-188	PDB
6Z6M	EM	310 A	LQ	1-188	PDB
6Z6N	EM	290 A	LQ	1-188	PDB
6ZM7	EM	270 A	LQ	1-188	PDB
6ZME	EM	300 A	LQ	1-188	PDB
6ZMI	EM	260 A	LQ	1-188	PDB
6ZMO	EM	310 A	LQ	1-188	PDB
6ZVK	EM	349 A	S2	2-188	PDB
7A01	EM	360 A	S2	2-188	PDB
7BHP	EM	330 A	LQ	1-188	PDB
7F5S	EM	272 A	LQ	1-188	PDB
7OW7	EM	220 A	K	1-188	PDB
7QVP	EM	300 A	LQ/MQ	1-188	PDB
7XNX	EM	270 A	LQ	1-188	PDB
7XNY	EM	250 A	LQ	1-188	PDB
8A3D	EM	167 A	K	1-188	PDB
8FKP	EM	285 A	LB	1-188	PDB
8FKQ	EM	276 A	LB	1-188	PDB
8FKR	EM	289 A	LB	1-188	PDB
8FKS	EM	288 A	LB	1-188	PDB
8FKT	EM	281 A	LB	1-188	PDB
8FKU	EM	282 A	LB	1-188	PDB
8FKV	EM	247 A	LB	1-188	PDB
8FKW	EM	250 A	LB	1-188	PDB
8FKX	EM	259 A	LB	1-188	PDB
8FKY	EM	267 A	LB	1-188	PDB
8FKZ	EM	304 A	LB	1-188	PDB
8FL0	EM	291 A	LB	1-188	PDB
8FL2	EM	267 A	LB	1-188	PDB
8FL3	EM	253 A	LB	1-188	PDB
8FL4	EM	289 A	LB	1-188	PDB
8FL6	EM	262 A	LB	1-188	PDB
8FL7	EM	255 A	LB	1-188	PDB
8FL9	EM	275 A	LB	1-188	PDB
8FLA	EM	263 A	LB	1-188	PDB
8FLB	EM	255 A	LB	1-188	PDB
8FLC	EM	276 A	LB	1-188	PDB
8FLD	EM	258 A	LB	1-188	PDB
8FLE	EM	248 A	LB	1-188	PDB
8FLF	EM	265 A	LB	1-188	PDB
8G5Y	EM	229 A	LQ	1-188	PDB
8G5Z	EM	264 A	LQ	2-188	PDB
8G60	EM	254 A	LQ	1-188	PDB
8G61	EM	294 A	LQ	1-188	PDB
8G6J	EM	280 A	LQ	1-188	PDB
8GLP	EM	167 A	LQ	1-188	PDB
8IDT	EM	280 A	Z	1-188	PDB
8IDY	EM	300 A	Z	1-188	PDB
8IE3	EM	330 A	Z	1-188	PDB
8IFD	EM	259 A	2K	1-188	PDB
8IFE	EM	257 A	2K	1-188	PDB
8INE	EM	320 A	Z	1-188	PDB
8INF	EM	300 A	Z	1-188	PDB
8INK	EM	320 A	Z	1-188	PDB
8IPD	EM	320 A	Z	1-188	PDB
8IPX	EM	430 A	Z	1-188	PDB
8IPY	EM	320 A	Z	1-188	PDB
8IR1	EM	330 A	Z	1-188	PDB
8IR3	EM	350 A	Z	1-188	PDB
8JDJ	EM	250 A	V	1-188	PDB
8JDK	EM	226 A	V	1-188	PDB
8JDL	EM	242 A	V	1-188	PDB
8JDM	EM	267 A	V	1-188	PDB
8OHD	EM	310 A	LQ	1-188	PDB
8OJ0	EM	330 A	LQ	1-188	PDB
8OJ5	EM	290 A	LQ	1-188	PDB
8OJ8	EM	330 A	LQ	1-188	PDB
8QFD	EM	220 A	Q	1-188	PDB
8Y0W	EM	340 A	LQ	1-188	PDB
8Y0X	EM	330 A	LQ	1-188	PDB
AF-Q07020-F1	Predicted				AlphaFoldDB

121 variants for Q07020

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_081935 rs1568425218 RCV000754828 CA406700309	51	L>S	Diamond-Blackfan anemia 18 DBA18; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA406700873 rs1297654161	3	V>A		No	ClinGen gnomAD
CA406700881 rs1255974070	3	V>M		No	ClinGen TOPMed
CA406700848 rs1460351240	5	I>T		No	ClinGen TOPMed
CA9554315 rs146179249	6	R>C		No	ClinGen ESP ExAC gnomAD
CA9554314 rs753278830	6	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753278830 CA406700836	6	R>L		No	ClinGen ExAC TOPMed gnomAD
CA309347743 rs753278830	6	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9554311 rs775081789	9	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9554310 rs771914333	9	K>R		No	ClinGen ExAC gnomAD
CA9554308 rs143728553	10	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA406700793 rs1422877211	10	D>G		No	ClinGen TOPMed gnomAD
rs745708400 CA9554309	10	D>N		No	ClinGen ExAC gnomAD
rs745708400 CA406700795	10	D>Y		No	ClinGen ExAC gnomAD
rs756946560 CA9554307	13	V>F		No	ClinGen ExAC gnomAD
rs201501207 CA9554306	14	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA406700668 rs1225808453	21	Q>E		No	ClinGen gnomAD
CA9554302 rs561664573	23	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1040235659 CA309347739	26	R>S		No	ClinGen gnomAD
rs1439751276 CA406700563	29	V>G		No	ClinGen TOPMed
CA9554268 rs747671244	33	R>S		No	ClinGen ExAC gnomAD
rs11554942 CA309347685	40	N>D		No	ClinGen Ensembl
CA406700381 rs1457936149	40	N>K		No	ClinGen gnomAD
rs368962215 CA9554263	45	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA309347684 rs1804325	45	Q>L		No	ClinGen Ensembl
rs1159601947 CA406700340	47	V>L		No	ClinGen gnomAD
rs1265834448 CA406700324	49	K>R		No	ClinGen gnomAD
rs757474012 CA9554260	55	R>H		No	ClinGen ExAC gnomAD
rs1601140550 CA406700273	56	T>P		No	ClinGen Ensembl
CA406700266 rs1601140545	57	N>T		No	ClinGen Ensembl
rs1018713668 CA309347682	58	R>Q		No	ClinGen Ensembl
CA309347681 rs11554941	60	P>H		No	ClinGen Ensembl
CA406700249 rs1601140513	60	P>S		No	ClinGen Ensembl
CA9554257 rs759454766	61	L>V		No	ClinGen ExAC TOPMed gnomAD
rs17851938 CA9554255	62	S>C		No	ClinGen ExAC gnomAD
CA406700222 rs1285166361	65	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA406700224 rs1568425178	65	R>W		No	ClinGen Ensembl
rs374561441 CA406699951	68	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs764449977 CA9554141	68	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374561441 CA9554142	68	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9554139 rs775772539	69	K>Q		No	ClinGen ExAC gnomAD
CA309347645 rs11554937	70	M>L		No	ClinGen Ensembl
rs767702521 CA9554138	75	R>W		No	ClinGen ExAC gnomAD
rs765399222 CA9554136	76	E>G		No	ClinGen ExAC TOPMed gnomAD
CA406699839 rs1175926638	77	N>D		No	ClinGen gnomAD
CA9554135 rs371932309	77	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs748098468 CA9554134	79	T>A		No	ClinGen ExAC gnomAD
CA9554133 rs141675994	79	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9554131 rs11554936	80	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA309347643 rs943209811	82	V>F		No	ClinGen Ensembl
CA309347642 rs201384708	83	V>A		No	ClinGen 1000Genomes
CA406699712 rs1424865802	86	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	89	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199716834 CA309347641	90	V>A		No	ClinGen 1000Genomes TOPMed
rs12037 CA309407984	97	K>N		No	ClinGen Ensembl
CA406731476 rs1178310429	97	K>Q		No	ClinGen TOPMed gnomAD
CA406731255 rs1361957942	100	V>I		No	ClinGen gnomAD
rs1181029820 CA406731206	102	A>V		No	ClinGen gnomAD
rs759298767 CA9554055	104	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1048829394 CA309407581	105	V>M		No	ClinGen TOPMed gnomAD
CA9554053 rs762595008	107	S>I		No	ClinGen ExAC TOPMed gnomAD
rs762595008 CA9554052	107	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9554050 COSM474991 rs559300689	108	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772717055 CA9554051	108	R>W		No	ClinGen ExAC gnomAD
CA406731140 rs1418479825	109	A>V		No	ClinGen TOPMed
CA406731136 rs1238928275	110	R>C		No	ClinGen TOPMed gnomAD
CA9554048 rs776972248	110	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769334709 CA9554047	111	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9554046 rs1804326	112	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9554045 rs780597789	113	I>V		No	ClinGen ExAC TOPMed gnomAD
rs11554939 CA309407549	114	L>I		No	ClinGen Ensembl
CA406731070 rs1439178727	116	A>S		No	ClinGen TOPMed
rs13870 CA309407544	118	G>C		No	ClinGen Ensembl
rs939229440 CA309407542	119	K>N		No	ClinGen TOPMed
CA406730989 rs1300093037	121	L>V		No	ClinGen TOPMed
rs138053229 CA9554043	123	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748611471 CA9554041	125	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA9554039 rs767423084	128	L>V		No	ClinGen ExAC gnomAD
CA9554038 rs754935395	129	D>G		No	ClinGen ExAC gnomAD
CA9554037 rs751285320	130	S>F		No	ClinGen ExAC gnomAD
TCGA novel	130	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374370198 CA309407520	137	V>I		No	ClinGen ESP
rs370747953	140	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs761204720 CA9554032	140	S>A		No	ClinGen ExAC gnomAD
CA9554031 rs551842835	140	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs769856888 CA9554004	143	R>H		No	ClinGen ExAC gnomAD
rs1305867637 CA406730593	144	K>E		No	ClinGen gnomAD
rs1344020482 CA406730587	144	K>R		No	ClinGen TOPMed
COSM459905 rs368131281 CA9554001	146	R>Q	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1344626086 CA406730530	148	V>G		No	ClinGen gnomAD
rs1280261234 CA406730521	149	Y>C		No	ClinGen TOPMed
rs373946681 CA9553999	150	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs11554940 CA9554000	150	R>W		No	ClinGen ExAC TOPMed gnomAD
rs371342921 CA9553997	153	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161996469 CA406730414	157	G>A		No	ClinGen gnomAD
rs1383063549 CA406730420	157	G>R		No	ClinGen gnomAD
rs760233721 CA9553995	158	T>A		No	ClinGen ExAC gnomAD
TCGA novel	158	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760233721 CA406730405	158	T>P		No	ClinGen ExAC gnomAD
rs752307128 CA9553994	159	P>L		No	ClinGen ExAC gnomAD
rs1232339057 CA406730355	161	S>R		No	ClinGen TOPMed gnomAD
CA406730329 rs1171075710	163	T>N		No	ClinGen TOPMed
CA9553990 rs771309189	164	K>E		No	ClinGen ExAC TOPMed gnomAD
rs774339729 CA9553959	167	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770830016 CA9553958	168	R>C		No	ClinGen ExAC TOPMed gnomAD
CA406730178 rs749030183	168	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9553957 rs749030183	168	R>L		No	ClinGen ExAC gnomAD
CA309407136 rs199925096	172	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs747784721 CA9553953	175	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9553952 rs780751812	176	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754509517 CA9553951	176	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1525543 CA406730051 rs1249166191	178	R>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9553948 rs766853623	180	R>*		No	ClinGen ExAC TOPMed gnomAD
rs758912189 CA9553947	180	R>Q		No	ClinGen ExAC gnomAD
rs765612540 CA9553945	181	R>W		No	ClinGen ExAC gnomAD
CA9553944 rs547732141	182	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs776881353 CA9553943	184	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9553942 rs764288105	186	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA309407062 rs775443853	187	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9553940 rs775443853	187	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1391081043 CA406729947	187	K>R		No	ClinGen gnomAD

1 associated diseases with Q07020

[MIM: 618310]: Diamond-Blackfan anemia 18 (DBA18)

A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. {ECO:0000269|PubMed:28280134}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant. {ECO:0000269|PubMed:28280134}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for Q07020

Type	Name	Position	InterPro Accession
domain	Ribosomal protein L18e/L15P	2 - 188	IPR021131
conserved_site	Ribosomal protein L18/L18-A/B/e, conserved site	49 - 66	IPR021132

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Cytoplasm Rough endoplasmic reticulum	Detected on cytosolic polysomes (PubMed:25957688) Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
cytosolic large ribosomal subunit	The large subunit of a ribosome located in the cytosol.
cytosolic ribosome	A ribosome located in the cytosol.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
polysomal ribosome	A ribosome bound to mRNA that forms part of a polysome.
rough endoplasmic reticulum	The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome	The action of a molecule that contributes to the structural integrity of the ribosome.

2 GO annotations of biological process

Name	Definition
cytoplasmic translation	The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P35980	Rpl18	60S ribosomal protein L18	Mus musculus (Mouse)	PR
Q940B0	RPL18C	60S ribosomal protein L18-3	Arabidopsis thaliana (Mouse-ear cress)	PR
O22254	RPL18A	Putative 60S ribosomal protein L18-1	Arabidopsis thaliana (Mouse-ear cress)	PR
P42791	RPL18B	60S ribosomal protein L18-2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGVDIRHNKD	RKVRRKEPKS	QDIYLRLLVK	LYRFLARRTN	STFNQVVLKR	LFMSRTNRPP
70	80	90	100	110	120
LSLSRMIRKM	KLPGRENKTA	VVVGTITDDV	RVQEVPKLKV	CALRVTSRAR	SRILRAGGKI
130	140	150	160	170	180
LTFDQLALDS	PKGCGTVLLS	GPRKGREVYR	HFGKAPGTPH	SHTKPYVRSK	GRKFERARGR

RASRGYKN