Reactome | LRP5 D666_L809del [plasma membrane]

LRP5 D666_L809del [plasma membrane]

Stable Identifier

R-HSA-5339694

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
19158955	The internally truncated LRP5 receptor presents a therapeutic target in breast cancer Björklund, P, Akerström, G, Olsson, AK, Westin, G, Svedlund, J	PLoS ONE	2009
18044981	An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling Björklund, P, Akerström, G, Westin, G	PLoS Med.	2007

External Reference Information

External Reference

UniProt:O75197 LRP5

Gene Names

LRP5, LR3, LRP7

Chain

signal peptide:1-31, chain:32-1615

Reference Genes

BioGPS Gene:4041 LRP5

COSMIC (genes):LRP5 LRP5

CTD Gene:4041 LRP5

dbSNP Gene:4041 LRP5

ENSEMBL:ENSG00000162337 LRP5

HGNC:6697 LRP5

KEGG:hsa:4041 LRP5

Monarch:4041 LRP5

NCBI Gene:4041 LRP5

OMIM:603506 LRP5

UCSC:O75197 LRP5

Reference Transcript

Other Identifiers

11727159_a_at

16728066

209468_PM_at

209468_at

3337517

3337518

3337539

3337548

3337549

3337550

3337561

3337565

3337574

3337575

3337576

3337577

3337578

3337579

3337580

3337581

3337582

3337588

3337589

3337590

3337592

3337595

3337598

3337599

3337600

3337601

3337602

3337603

3337606

3337607

3337609

3337610

3337611

3337613

3955653

3955654

4041

41831_at

7942007

A_14_P104736

A_23_P1505

GE54706

GO:0001702

GO:0001944

GO:0002053

GO:0002076

GO:0005515

GO:0005783

GO:0005886

GO:0005975

GO:0006007

GO:0006355

GO:0006629

GO:0006865

GO:0006897

GO:0007155

GO:0007399

GO:0008078

GO:0008203

GO:0008217

GO:0008284

GO:0009952

GO:0010467

GO:0012501

GO:0015026

GO:0016020

GO:0016055

GO:0016192

GO:0017147

GO:0023052

GO:0033687

GO:0033690

GO:0035019

GO:0035108

GO:0035426

GO:0042074

GO:0042632

GO:0042733

GO:0042813

GO:0042981

GO:0043226

GO:0043235

GO:0043434

GO:0045600

GO:0045668

GO:0045669

GO:0045840

GO:0045893

GO:0045944

GO:0046849

GO:0048514

GO:0048539

GO:0048856

GO:0048870

GO:0060033

GO:0060042

GO:0060070

GO:0060089

GO:0060348

GO:0060349

GO:0060444

GO:0060603

GO:0060612

GO:0060764

GO:0060856

GO:0061178

GO:0061298

GO:0061299

GO:0061304

GO:0071901

GO:0098609

GO:0110135

GO:1902262

GO:1990851

GO:1990909

GO:1990963

HMNXSV003010807

ILMN_1702775

ILMN_2075892

PH_hs_0000640

TC11000707.hg

g3582144_3p_at

Participates

as an input of

misspliced mutants of LRP5 support enhanced beta-catenin-dependent signaling (Homo sapiens)

Other forms of this molecule

LRP5 [plasma membrane]

p-5S,5T-LRP5 [plasma membrane]

p-3S,2T-LRP5 [plasma membrane]

LRP5 [early endosome membrane]

Modified Residues

Name

Deletion of residues 666 to 809

Disease

Name	Identifier	Synonyms
parathyroid carcinoma	DOID:1540	malignant neoplasm of parathyroid gland, malignant neoplasm of the Parathyroid, parathyroid gland cancer, neoplasm of parathyroid gland, carcinoma of Parathyroid gland, Parathyroid gland neoplasm, malignant tumor of parathyroid gland (disorder), parathyroid neoplasm
breast cancer	DOID:1612	malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor

Cross References

RefSeq

NP_001278831.1, NP_002326.2

OpenTargets

ENSG00000162337

ENSEMBL

ENSP00000294304, ENST00000294304

HPA

ENSG00000162337-LRP5

PRO

O75197

Pharos - Targets

O75197

Orphanet

LRP5

HMDB Protein

HMDBP07786

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9BQB4 SOST	1	SOST [extracellular region] (R-HSA-3769322)	0.744	5
UniProt:Q9H5K3 POMK	1	POMK [endoplasmic reticulum membrane] (R-HSA-8879120)	0.643	4
UniProt:O94907 DKK1	2	DKK1 [early endosome membrane] (R-HSA-5368462) DKK1 [extracellular region] (R-HSA-452535)	0.527	3
UniProt:Q9HCJ2 LRC4C			0.527	2
UniProt:Q9UBM8 MGAT4C	1	MGAT4C [Golgi membrane] (R-HSA-975907)	0.527	2
UniProt:P55899 FCGRN			0.527	2
UniProt:Q17RF5 ODAPH			0.527	2
UniProt:P00740 F9	20	F9(227-461) R384L [plasma membrane] (R-HSA-9668263) 3OHD110-F9(29-461) N43L [endoplasmic reticulum lumen] (R-HSA-9673207) 3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen] (R-HSA-9673232) 3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen] (R-HSA-9673217) 3OHD110-F9(29-461) N43W [endoplasmic reticulum lumen] (R-HSA-9673235) 12xCbxE-3D-F9(47-461) R191H [extracellular region] (R-HSA-9673404) F9(29-461) R43Q [extracellular region] (R-HSA-9673228) F9(29-461) R43W [extracellular region] (R-HSA-9673213) 12xCbxE-3D-F9(47-461) R191C [extracellular region] (R-HSA-9673391) F9(29-461) R46S [extracellular region] (R-HSA-9673193) 12xCbxE-3D-F9(47-461) R226W [extracellular region] (R-HSA-9673403) F9(29-461) R43L [extracellular region] (R-HSA-9673205) 12xCbxE-3D-F9(47-461) R226Q [extracellular region] (R-HSA-9673415) 12xCbxE-3D-F9(47-461) R226G [extracellular region] (R-HSA-9673418) F9(227-461) G409V [plasma membrane] (R-HSA-9671020) F9(227-461) I443T [plasma membrane] (R-HSA-9670908) F9(227-461) S411G [plasma membrane] (R-HSA-9671021) F9(227-461) G363E [plasma membrane] (R-HSA-9670894) F9(227-461) G363R [plasma membrane] (R-HSA-9670862) F9(227-461) D410H [plasma membrane] (R-HSA-9671007)	0.527	2
UniProt:Q9UBT3 DKK4	2	DKK4 [early endosome membrane] (R-HSA-5368466) DKK4 [extracellular region] (R-HSA-3769327)	0.527	3
UniProt:O95156 NXPH2			0.527	2
UniProt:Q8WWY8 LIPH	1	LIPH [plasma membrane] (R-HSA-6792457)	0.527	2
UniProt:P41212 ETV6	14	ETV6(1-384)-p-6Y-FLT3(573-993) fusion [cytosol] (R-HSA-9703308) ETV6(1-154)insGSFILG-p-6Y-FLT3(573-993) fusion [cytosol] (R-HSA-9703302) ETV6(1-336)insGCS-p-6Y-FLT3(573-993) fusion [cytosol] (R-HSA-9703305) ETV6(1-301)-p-6Y-FLT3(574-993) fusion [cytosol] (R-HSA-9703318) ETV6(1-384)-p-3Y-FLT3(659-1620) fusion [cytosol] (R-HSA-9703313) ETV6(1-154)insGSFILG-FLT3(573-993) fusion [cytosol] (R-HSA-9703312) ETV6(1-336)insGCS-FLT3(573-993) fusion [cytosol] (R-HSA-9703320) ETV6(1-384)-FLT3(573-993) fusion [cytosol] (R-HSA-9703307) ETV6(1-301)-FLT3(574-993) fusion [cytosol] (R-HSA-9703315) ETV6(1-384)-FLT3(569-993) fusion [cytosol] (R-HSA-9697944) ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane] (R-HSA-9673898) ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane] (R-HSA-9673893) p-11Y-ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane] (R-HSA-9673905) p-12Y-ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane] (R-HSA-9673912)	0.527	3
UniProt:P58499 FAM3B			0.527	2
UniProt:A4D1T9 PRS37			0.527	2
UniProt:Q96D21 RHES			0.527	2
UniProt:Q9BZ11 ADAM33	1	ADAM33 [plasma membrane] (R-HSA-708324)	0.527	2
UniProt:Q8IW75 SPA12			0.527	2
UniProt:O95968 SG1D1			0.527	2
UniProt:Q7L1S5 CHST9			0.527	3
UniProt:Q76B58 BRNP3			0.527	2
UniProt:Q8IUE0 TF2LY			0.527	2
UniProt:Q9UK85 DKKL1			0.527	3
UniProt:Q92187 ST8SIA4	1	ST8SIA4 [Golgi membrane] (R-HSA-422390)	0.527	2
UniProt:Q6IMN6 CAPR2			0.524	3
UniProt:Q8J025 APCD1			0.524	3

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