EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000149257 (Gene tree)
Gene ID: 871
Gene Symbol: SERPINH1
Alias: HSP47|colligen|CBP1|CBP2|SERPINH2
Full Name: serpin family H member 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 10,749 bases
Position: chr11:75,562,056-75,572,804
Accession: 1546
RBP type: non-canonical RBP
Summary: This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
29431736	Capturing the interactome of newly transcribed RNA	NascentRICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
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
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
19940440	Potential contributions of heat shock proteins to temperature-dependent sex determination in the American alligator.	Sex Dev	2010	Kohno S	doi: 10.1159/000260374
10521416	An RNA binding motif in the Cbp2 protein required for protein-stimulated RNA catalysis.	J Biol Chem	1999 Oct 22	Tirupati HK	-
8553068	Assembly of a ribonucleoprotein catalyst by tertiary structure capture.	Science	1996 Jan 19	Weeks KM	-
15047869	The mitochondrial message-specific mRNA protectors Cbp1 and Pet309 are associated in a high-molecular weight complex.	Mol Biol Cell	2004 Jun	Krause K	-
30637779	Long-Read RNA Sequencing Identifies Alternative Splice Variants in Hepatocellular Carcinoma and Tumor-Specific Isoforms.	Hepatology	2019 Jan 13	Chen H	doi: 10.1002/hep.30500
11399081	Protein-dependent transition states for ribonucleoprotein assembly.	J Mol Biol	2001 Jun 22	Webb AE	-
14636054	Near native structure in an RNA collapsed state.	Biochemistry	2003 Dec 2	Buchmueller KL	-
2685564	CBP2 protein promotes in vitro excision of a yeast mitochondrial group I intron.	Mol Cell Biol	1989 Dec	Gampel A	-
16872630	Two distinct binding modes of a protein cofactor with its target RNA.	J Mol Biol	2006 Aug 25	Bokinsky G	-
25531382	[Single-chain human anti-EGFR antibody/truncated protamine fusion protein carrying Hsp47 siRNA can induce apoptosis of human hepatic stellate cells].	Zhonghua Gan Zang Bing Za Zhi	2014 Nov	Zeng YL	doi: 10.3760/cma.j.issn.1007-3418.2014.11.009.
26462908	Arabidopsis CBP1 Is a Novel Regulator of Transcription Initiation in Central Cell-Mediated Pollen Tube Guidance.	Plant Cell	2015 Oct	Li HJ	doi: 10.1105/tpc.15.00370

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000526638	SERPINH1-208	719	-	ENSP00000436306	56 (aa)	-	H0YEP8
ENST00000533449	SERPINH1-214	582	-	ENSP00000431827	150 (aa)	-	E9PJH8
ENST00000525876	SERPINH1-205	2283	-	ENSP00000433532	201 (aa)	-	E9PKH2
ENST00000528760	SERPINH1-209	773	-	ENSP00000437108	203 (aa)	-	E9PNX1
ENST00000532356	SERPINH1-213	998	-	ENSP00000436040	295 (aa)	-	E9PR70
ENST00000524558	SERPINH1-202	3391	XM_011545327	ENSP00000434412	418 (aa)	XP_011543629	P50454
ENST00000649490	SERPINH1-216	3523	-	ENSP00000497544	324 (aa)	-	UPI000189281E
ENST00000358171	SERPINH1-201	2225	-	ENSP00000350894	418 (aa)	-	P50454
ENST00000528990	SERPINH1-210	587	-	ENSP00000432007	165 (aa)	-	E9PIG2
ENST00000530284	SERPINH1-212	1358	-	ENSP00000436305	324 (aa)	-	E9PPV6
ENST00000526242	SERPINH1-206	474	-	ENSP00000431384	85 (aa)	-	E9PLA6
ENST00000525611	SERPINH1-204	974	-	ENSP00000435452	247 (aa)	-	E9PK86
ENST00000529643	SERPINH1-211	660	-	ENSP00000435936	166 (aa)	-	E9PRS3
ENST00000533603	SERPINH1-215	2299	-	ENSP00000434657	418 (aa)	-	P50454
ENST00000525492	SERPINH1-203	529	-	ENSP00000434482	142 (aa)	-	E9PQ34
ENST00000526397	SERPINH1-207	882	-	ENSP00000434964	249 (aa)	-	E9PMI5

Gene Model

Click here to download ENSG00000149257's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000149257	Personality	7.799e-005	-
ENSG00000149257	Platelet Function Tests	1.6654700E-005	-
ENSG00000149257	Platelet Function Tests	1.5106000E-005	-
ENSG00000149257	Platelet Function Tests	6.1341493E-006	-
ENSG00000149257	Body Height	2E-9	22021425
ENSG00000149257	Body Height	1E-16	25429064
ENSG00000149257	Body Height	2E-23	25282103
ENSG00000149257	Body Height	4E-13	20881960
ENSG00000149257	Hip	1E-8	25673412
ENSG00000149257	Body Mass Index	1E-8	25673412

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000149257	rs634552	11	75571007	T	Height	20881960	[NR] unit increase	0.039	EFO_0004339
ENSG00000149257	rs590121	11	75563105	T	Coronary artery disease	29212778	[0.027-0.051] unit increase	0.0386	EFO_0000378
ENSG00000149257	rs606452	11	75565133	A	Coronary artery disease	29212778	[0.033-0.061] unit decrease	0.0466	EFO_0000378
ENSG00000149257	rs606452	11	75565133	C	Height	22021425	[0.023-0.063] unit decrease	0.043	EFO_0004339
ENSG00000149257	rs606452	11	75565133	A	Waist circumference adjusted for body mass index	28448500	[0.02-0.047] cm increase	0.0335	EFO_0007789\|EFO_0008002
ENSG00000149257	rs606452	11	75565133	A	Waist circumference adjusted for body mass index	28448500	[0.021-0.042] cm increase	0.0315	EFO_0007789\|EFO_0008002
ENSG00000149257	rs606452	11	75565133	A	Waist circumference adjusted for BMI in active individuals	28448500	[0.023-0.054] cm increase	0.0384	EFO_0007789\|EFO_0008002
ENSG00000149257	rs606452	11	75565133	A	Waist circumference adjusted for BMI in active individuals	28448500	[0.022-0.047] cm increase	0.0344	EFO_0007789\|EFO_0008002
ENSG00000149257	rs606452	11	75565133	?	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	28448500			EFO_0007789\|EFO_0008002
ENSG00000149257	rs606452	11	75565133	?	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	28448500			EFO_0007789\|EFO_0008002
ENSG00000149257	rs634552	11	75571007	G	Height	28270201	[0.0036-0.0074] m decrease	0.005503326	EFO_0004339
ENSG00000149257	rs606452	11	75565133	A	Hip circumference adjusted for BMI	25673412	[0.019-0.039] unit increase	0.0292	EFO_0008039
ENSG00000149257	rs606452	11	75565133	A	Height	25429064	[0.027-0.051] unit increase	0.039	EFO_0004339
ENSG00000149257	rs606452	11	75565133	A	Height	25282103	[0.035-0.051] unit increase	0.043	EFO_0004339

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000149257's network

* 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
ENSG00000149257	SERPINH1	100	97.015	ENSMUSG00000070436	Serpinh1	92	96.354	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003433	chondrocyte development involved in endochondral bone morphogenesis	-	IEA	Process
GO:0003723	RNA binding	22658674.	HDA	Function
GO:0004867	serine-type endopeptidase inhibitor activity	21873635.	IBA	Function
GO:0005518	collagen binding	7656593.	NAS	Function
GO:0005615	extracellular space	-	IEA	Component
GO:0005783	endoplasmic reticulum	21873635.	IBA	Component
GO:0005783	endoplasmic reticulum	-	IDA	Component
GO:0005783	endoplasmic reticulum	7656593.	NAS	Component
GO:0005788	endoplasmic reticulum lumen	-	TAS	Component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	15308636.	IDA	Component
GO:0006986	response to unfolded protein	1309665.10023073.	TAS	Process
GO:0010951	negative regulation of endopeptidase activity	21873635.	IBA	Process
GO:0030199	collagen fibril organization	21873635.	IBA	Process
GO:0032964	collagen biosynthetic process	-	IEA	Process
GO:0045121	membrane raft	25204797.	IDA	Component
GO:0051082	unfolded protein binding	-	IEA	Function
GO:0051604	protein maturation	-	IEA	Process
GO:0062023	collagen-containing extracellular matrix	25037231.28675934.	HDA	Component
GO:0062023	collagen-containing extracellular matrix	28327460.	HDA	Component

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
27925182	Proteomics analysis of differential protein expression identifies heat shock protein 47 as a predictive marker for lymph node metastasis in patients with colorectal cancer.	Int J Cancer	2017 Mar 15	Mori K	doi: 10.1002/ijc.30557.
18293509	Unexpected expression of Hsp47, a replacement of one amino acid (Val 7 Leu) in the amino terminal region, in cultured human tumorigenic cell lines.	J Dermatol Sci	2008 Jan	Katagata Y	-
24141696	Tumor-suppressive microRNA-29a inhibits cancer cell migration and invasion via targeting HSP47 in cervical squamous cell carcinoma.	Int J Oncol	2013 Dec	Yamamoto N	doi: 10.3892/ijo.2013.2145
27488440	Regulation of LOXL2 and SERPINH1 by antitumor microRNA-29a in lung cancer with idiopathic pulmonary fibrosis.	J Hum Genet	2016 Dec	Kamikawaji K	doi: 10.1038/jhg.2016.99
25744716	Chaperone Hsp47 Drives Malignant Growth and Invasion by Modulating an ECM Gene Network.	Cancer Res	2015 Apr 15	Zhu J	doi: 10.1158/0008-5472.CAN-14-1027
20043075	An 8-gene signature, including methylated and down-regulated glutathione peroxidase 3, of gastric cancer.	Int J Oncol	2010 Feb	Zhang X	-

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr11	75571796	Missense_Mutation	novel	L324M	0.26
BLCA	chr11	75566621	Missense_Mutation	rs750020039	S91L	0.24
BLCA	chr11	75571898	Missense_Mutation	NA	E358Q	0.42
BLCA	chr11	75571972	Missense_Mutation	NA	F382L	0.54
BLCA	chr11	75572121	3'UTR	novel		0.47
BLCA	chr11	75566882	Missense_Mutation	rs755143041	A178V	0.12
CESC	chr11	75566871	Silent	NA	N174N	0.46
CESC	chr11	75563632	Intron	novel		0.19
CESC	chr11	75566787	Silent	NA	F146F	0.22
CESC	chr11	75566580	Silent	novel	S77S	0.39
CESC	chr11	75566882	Missense_Mutation	rs755143041	A178V	0.43
CESC	chr11	75566964	Silent	NA	F205F	0.69
COAD	chr11	75568962	Missense_Mutation	NA	E249K	0.25
COAD	chr11	75568955	Silent	rs199681690	Y246Y	0.21
COAD	chr11	75568824	Missense_Mutation	rs750157727	R239Q	0.09
COAD	chr11	75569120	Silent	NA	A301A	0.24
COAD	chr11	75566792	Missense_Mutation	NA	R148H	0.45
COAD	chr11	75569039	Silent	rs760886717	H274H	0.32
COAD	chr11	75568656	Intron	novel		0.31
COAD	chr11	75569281	Intron	novel		0.42
COAD	chr11	75571883	Missense_Mutation	NA	H353N	0.21
COAD	chr11	75569231	Intron	novel		0.3
COAD	chr11	75568807	Silent	novel	G233G	0.39
DLBC	chr11	75566579	Missense_Mutation	novel	S77L	0.42
DLBC	chr11	75566872	Missense_Mutation	rs766813083	E175K	0.38
ESCA	chr11	75566479	Missense_Mutation	novel	A44T	0.36
ESCA	chr11	75563653	Intron	novel		0.24
GBM	chr11	75568986	Nonsense_Mutation	novel	E257*	0.1
GBM	chr11	75566842	Missense_Mutation	NA	D165N	0.41
HNSC	chr11	75566775	Silent	rs371660937	F142F	0.17
HNSC	chr11	75566754	Silent	novel	Y135Y	0.41
HNSC	chr11	75566934	Silent	novel	T195T	0.14
HNSC	chr11	75571822	Silent	novel	K332K	0.1
HNSC	chr11	75566895	Silent	rs748359784	D182D	0.47
HNSC	chr11	75569055	Missense_Mutation	rs200572997	R280C	0.44
KIRC	chr11	75568982	Silent	rs369937589	I255I	0.22
LGG	chr11	75571928	Nonsense_Mutation	NA	Q368*	0.28
LGG	chr11	75566933	Missense_Mutation	NA	T195M	0.24
LIHC	chr11	75569202	Intron	novel		0.35
LIHC	chr11	75569139	Missense_Mutation	novel	K308E	0.1
LIHC	chr11	75571877	Missense_Mutation	rs368336245	V351M	0.58
LIHC	chr11	75568812	Missense_Mutation	NA	M235T	0.08
LUAD	chr11	75566920	Missense_Mutation	novel	D191H	0.11
LUAD	chr11	75566589	Silent	rs367576479	L80L	0.11
LUAD	chr11	75572502	3'UTR	novel		0.5
LUSC	chr11	75571944	Missense_Mutation	NA	R373P	0.92
LUSC	chr11	75566892	Silent	novel	T181T	0.24
LUSC	chr11	75566861	Missense_Mutation	novel	Q171L	0.29
OV	chr11	75566469	Silent	novel	A40A	0.09
OV	chr11	75568712	Intron	novel		0.12
OV	chr11	75566808	Missense_Mutation	novel	H153Q	0.09
READ	chr11	75566872	Missense_Mutation	rs766813083	E175K	0.43
SARC	chr11	75566525	Missense_Mutation	novel	A59G	0.31
SKCM	chr11	75571854	Missense_Mutation	NA	K343T	0.2
SKCM	chr11	75566787	Silent	NA	F146F	0.32
SKCM	chr11	75568800	Missense_Mutation	NA	T231I	0.44
SKCM	chr11	75571814	Missense_Mutation	NA	I330V	0.15
SKCM	chr11	75566665	Missense_Mutation	novel	E106K	0.55
SKCM	chr11	75568794	Missense_Mutation	NA	S229F	0.83
SKCM	chr11	75571985	Missense_Mutation	novel	P387S	0.29
STAD	chr11	75571892	Missense_Mutation	rs747912977	A356T	0.26
STAD	chr11	75571892	Missense_Mutation	rs747912977	A356T	0.16
STAD	chr11	75571842	Missense_Mutation	rs535510332	R339H	0.33
STAD	chr11	75566789	Missense_Mutation	novel	V147E	0.15
STAD	chr11	75569144	Silent	NA	G309G	0.22
STAD	chr11	75572047	Silent	NA	V407V	0.34
STAD	chr11	75572096	3'UTR	novel		0.16
THCA	chr11	75566941	Missense_Mutation	NA	A198T	0.42
UCEC	chr11	75566475	Silent	NA	T42T	0.33
UCEC	chr11	75566617	Missense_Mutation	NA	A90T	0.64
UCEC	chr11	75571788	Missense_Mutation	NA	L321P	0.27
UCEC	chr11	75566725	Missense_Mutation	NA	V126M	0.33
UCEC	chr11	75569124	Missense_Mutation	rs751052033	A303T	0.37
UCEC	chr11	75571905	Missense_Mutation	novel	D360G	0.37
UCEC	chr11	75568644	Intron	novel		0.5
UCEC	chr11	75569090	Missense_Mutation	novel	K291N	0.12
UCEC	chr11	75571972	Missense_Mutation	NA	F382L	0.19
UCEC	chr11	75571892	Missense_Mutation	rs747912977	A356T	0.29
UCEC	chr11	75572010	Missense_Mutation	novel	T395I	0.5
UCEC	chr11	75563659	Intron	novel		0.19
UCEC	chr11	75566934	Silent	novel	T195T	0.37
UCEC	chr11	75568692	Intron	novel		0.15
UCEC	chr11	75566805	Silent	novel	Q152Q	0.43
UCEC	chr11	75568939	Missense_Mutation	novel	G241D	0.28
UCEC	chr11	75566374	Missense_Mutation	novel	A9T	0.37
UCEC	chr11	75571831	Silent	rs551772387	A335A	0.43
UCEC	chr11	75563698	Intron	novel		0.43
UCEC	chr11	75566934	Silent	novel	T195T	0.3
UCEC	chr11	75571811	Missense_Mutation	novel	A329T	0.57
UCEC	chr11	75566603	Missense_Mutation	novel	G85D	0.32
UCEC	chr11	75571939	Silent	rs533870576	Y371Y	0.54
UCEC	chr11	75569159	Silent	NA	T314T	0.11
UCEC	chr11	75571885	Silent	rs199548932	H353H	0.15
UCEC	chr11	75563659	Intron	novel		0.25
UCEC	chr11	75566576	Missense_Mutation	rs376824871	S76L	0.43
UCEC	chr11	75571945	Silent	rs375913094	R373R	0.32
UCEC	chr11	75563698	Intron	novel		0.52
UCEC	chr11	75566747	Missense_Mutation	novel	R133Q	0.57
UCEC	chr11	75566622	Silent	novel	S91S	0.26
UCEC	chr11	75569058	Missense_Mutation	novel	L281I	0.16
UCEC	chr11	75566883	Silent	rs779175397	A178A	0.33
UCEC	chr11	75566959	Missense_Mutation	novel	M204V	0.16
UCEC	chr11	75572193	3'UTR	novel		0.5
UCEC	chr11	75566725	Missense_Mutation	NA	V126M	0.5
UCS	chr11	75571803	Missense_Mutation	novel	L326R	0.59

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
ESCA	AMP	0.2446	0.018342
TGCT	DEL	0.6933	0.21504

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
STAD	0.012	Kaplan-Meier Survival Analysis
SARC	0.013	Kaplan-Meier Survival Analysis
MESO	0.0001	Kaplan-Meier Survival Analysis
ACC	0.00011	Kaplan-Meier Survival Analysis
HNSC	0.0017	Kaplan-Meier Survival Analysis
PRAD	0.02	Kaplan-Meier Survival Analysis
KIRP	0.00013	Kaplan-Meier Survival Analysis
COAD	0.0031	Kaplan-Meier Survival Analysis
PAAD	0.033	Kaplan-Meier Survival Analysis
BLCA	0.019	Kaplan-Meier Survival Analysis
CESC	0.0014	Kaplan-Meier Survival Analysis
UCEC	0.048	Kaplan-Meier Survival Analysis
LIHC	0.027	Kaplan-Meier Survival Analysis
LUAD	0.0082	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742