AutismKB 2.0

Annotation Detail for LRP1


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Basic Information Top
Gene Symbol:LRP1 ( A2MR,APOER,APR,CD91,FLJ16451,IGFBP3R,LRP,MGC88725,TGFBR5 )
Gene Full Name: low density lipoprotein receptor-related protein 1
Band: 12q13.3
Quick LinksEntrez ID:4035; OMIM: 107770; Uniprot ID:LRP1_HUMAN; ENSEMBL ID: ENSG00000123384; HGNC ID: 6692
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
114N-linked (GlcNAc...) (Potential).
136N-linked (GlcNAc...) (Potential).
185N-linked (GlcNAc...) (Potential).
239N-linked (GlcNAc...) (Potential).
274N-linked (GlcNAc...) (Potential).
357N-linked (GlcNAc...) (Potential).
446N-linked (GlcNAc...).
729N-linked (GlcNAc...).
928N-linked (GlcNAc...) (Potential).
1050N-linked (GlcNAc...) (Potential).
1154N-linked (GlcNAc...) (Potential).
1155N-linked (GlcNAc...) (Potential).
1195N-linked (GlcNAc...) (Potential).
1218N-linked (GlcNAc...) (Potential).
1511N-linked (GlcNAc...).
1558N-linked (GlcNAc...) (Potential).
1575N-linked (GlcNAc...).
1616N-linked (GlcNAc...).
1645N-linked (GlcNAc...).
1723N-linked (GlcNAc...) (Potential).
1733N-linked (GlcNAc...) (Potential).
1763N-linked (GlcNAc...).
1825N-linked (GlcNAc...) (Potential).
1933N-linked (GlcNAc...) (Potential).
1995N-linked (GlcNAc...) (Potential).
2048N-linked (GlcNAc...) (Potential).
2117N-linked (GlcNAc...) (Potential).
2127N-linked (GlcNAc...).
2472N-linked (GlcNAc...) (Potential).
2502N-linked (GlcNAc...) (Potential).
2521N-linked (GlcNAc...) (Potential).
2539N-linked (GlcNAc...) (Potential).
2601N-linked (GlcNAc...) (Potential).
2620N-linked (GlcNAc...) (Potential).
2638N-linked (GlcNAc...) (Potential).
2815N-linked (GlcNAc...).
2905N-linked (GlcNAc...) (Potential).
3048N-linked (GlcNAc...).
3089N-linked (GlcNAc...).
3264N-linked (GlcNAc...) (Potential).
3333N-linked (GlcNAc...) (Potential).
3488N-linked (GlcNAc...).
3662N-linked (GlcNAc...) (Potential).
3788N-linked (GlcNAc...).
3839N-linked (GlcNAc...) (Potential).
3943Recognition site for proteolytical
3953N-linked (GlcNAc...).
4075N-linked (GlcNAc...).
4125N-linked (GlcNAc...).
4179N-linked (GlcNAc...) (Potential).
4278N-linked (GlcNAc...) (Potential).
4279N-linked (GlcNAc...) (Potential).
4364N-linked (GlcNAc...) (Potential).
4460Phosphothreonine (Probable).
4507Phosphotyrosine.
4507Endocytosis signal (Potential).
4517Phosphoserine (Probable).
4520Phosphoserine (Probable).
4523Phosphoserine (Probable).
4524Phosphothreonine (By similarity).
Location(AA) Modifications Resource
114N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
136N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
185N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
239N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
274N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
357N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
446N-linked (GlcNAc...).Swiss-Prot 53.0
729N-linked (GlcNAc...).Swiss-Prot 53.0
928N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1050N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1154N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1218N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1511N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1558N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1575N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1616N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1645N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1723N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1733N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1763N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1825N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1933N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1995N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2048N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2117N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2127N-linked (GlcNAc...).Swiss-Prot 53.0
2472N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2502N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2521N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2601N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2620N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2638N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2815N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2905N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3048N-linked (GlcNAc...).Swiss-Prot 53.0
3089N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3333N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3488N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3662N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3788N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3839N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3953N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4075N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4278N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4279N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4364N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4507Phosphotyrosine (Src)Phospho.ELM 6.0
4517Phosphoserine (PKA
4520Phosphoserine (PKA
Location(AA) Modification Resource
114N-linkedHMM predict
220O-linkedHMM predict
220O-linkedHMM predict
221O-linkedHMM predict
223O-linkedHMM predict
223Phosphothreonine(MAPK)HMM predict
225O-linkedHMM predict
226O-linkedHMM predict
230Phosphothreonine(PKA)HMM predict
231O-linkedHMM predict
231Phosphothreonine(PKA)HMM predict
239N-linkedHMM predict
342Phosphotyrosine(EGFR)HMM predict
357N-linkedHMM predict
390SulfotyrosineHMM predict
446N-linkedHMM predict
450Phosphotyrosine(SRC)HMM predict
450Phosphotyrosine(Syk)HMM predict
483Phosphotyrosine(INSR)HMM predict
483Phosphotyrosine(SRC)HMM predict
483Phosphotyrosine(Syk)HMM predict
503Phosphothreonine(PKC)HMM predict
638Phosphothreonine(PKC)HMM predict
720Phosphotyrosine(EGFR)HMM predict
729N-linkedHMM predict
845N-linkedHMM predict
847O-linkedHMM predict
927Phosphoserine(IKK)HMM predict
928N-linkedHMM predict
1014Phosphoserine(IKK)HMM predict
1018O-linkedHMM predict
1050N-linkedHMM predict
1053N-linkedHMM predict
1096Phosphoserine(IKK)HMM predict
1154N-linkedHMM predict
1155N-linkedHMM predict
1195N-linkedHMM predict
1218N-linkedHMM predict
1307Phosphoserine(ATM)HMM predict
1425Phosphothreonine(PKC)HMM predict
1430Phosphothreonine(PKA)HMM predict
1511N-linkedHMM predict
1549S-palmitoylHMM predict
1558N-linkedHMM predict
1575N-linkedHMM predict
1616N-linkedHMM predict
1645N-linkedHMM predict
1733N-linkedHMM predict
1742O-linkedHMM predict
1763N-linkedHMM predict
1767N-linkedHMM predict
1825N-linkedHMM predict
1847Phosphothreonine(PKA)HMM predict
1919O-linkedHMM predict
1933N-linkedHMM predict
1995N-linkedHMM predict
2000Phosphotyrosine(Jak)HMM predict
2021Phosphotyrosine(Jak)HMM predict
2127N-linkedHMM predict
2156Phosphothreonine(PKA)HMM predict
2248O-linkedHMM predict
2248Phosphoserine(CDC2)HMM predict
2248Phosphoserine(CDK)HMM predict
2251Phosphothreonine(CDC2)HMM predict
2251Phosphothreonine(CDK)HMM predict
2301O-linkedHMM predict
2304O-linkedHMM predict
2434C-linkedHMM predict
2472N-linkedHMM predict
2475N-linkedHMM predict
2502N-linkedHMM predict
2521N-linkedHMM predict
2539N-linkedHMM predict
2601N-linkedHMM predict
2620N-linkedHMM predict
2625N-linkedHMM predict
2638N-linkedHMM predict
2682SulfotyrosineHMM predict
2780Phosphoserine(IKK)HMM predict
2815N-linkedHMM predict
2905N-linkedHMM predict
2912S-palmitoylHMM predict
2950Phosphoserine(PKG)HMM predict
2950Phosphoserine(IKK)HMM predict
2950PhosphoserineHMM predict
2965S-palmitoylHMM predict
3014MethylarginineHMM predict
3048N-linkedHMM predict
3049Phosphotyrosine(INSR)HMM predict
3089N-linkedHMM predict
3092N-linkedHMM predict
3212Phosphotyrosine(INSR)HMM predict
3212SulfotyrosineHMM predict
3228Phosphoserine(ATM)HMM predict
3264N-linkedHMM predict
3308Phosphoserine(CDC2)HMM predict
3308Phosphoserine(MAPK)HMM predict
3333N-linkedHMM predict
3488N-linkedHMM predict
3625S-palmitoylHMM predict
3662N-linkedHMM predict
3663N-linkedHMM predict
3756Phosphoserine(PKA)HMM predict
3771Phosphoserine(CK2)HMM predict
3771Phosphoserine(CK2)HMM predict
3784Phosphoserine(IKK)HMM predict
3788N-linkedHMM predict
3839N-linkedHMM predict
3840N-linkedHMM predict
3867Phosphotyrosine(INSR)HMM predict
3867Phosphotyrosine(SRC)HMM predict
3890Phosphotyrosine(Syk)HMM predict
3928O-linkedHMM predict
4075N-linkedHMM predict
4101SulfotyrosineHMM predict
4125N-linkedHMM predict
4163Phosphoserine(CDC2)HMM predict
4163Phosphoserine(MAPK)HMM predict
4165O-linkedHMM predict
4179N-linkedHMM predict
4187O-linkedHMM predict
4187Phosphoserine(CDC2)HMM predict
4189O-linkedHMM predict
4189O-linkedHMM predict
4189O-linkedHMM predict
4189Phosphothreonine(MAPK)HMM predict
4249O-linkedHMM predict
4249Phosphoserine(CDC2)HMM predict
4251O-linkedHMM predict
4278N-linkedHMM predict
4279N-linkedHMM predict
4281O-linkedHMM predict
4285N-linkedHMM predict
4294S-palmitoylHMM predict
4364N-linkedHMM predict
4382O-linkedHMM predict
4470N-linkedHMM predict
4473Phosphotyrosine(SRC)HMM predict
4501N-linkedHMM predict
4504N-linkedHMM predict
4520Phosphoserine(PKA)HMM predict
4520Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002332
  • Location:chr12 55808548-55893389
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55804394 55804717 323 3993
CTCF CD4SISSRdata 55804394 55804717 323 3993
CTCF JurkatGSE12889 55804431 55804606 175 4030
CTCF G2GSE9613 55803833 55804800 967 4232
CTCF G2GSE9613 55806958 55808202 1244 969
H3ac HepG2E 55806923 55807403 480 1386
HIF1 HypoHepG2 55807299 55807856 557 971
LIN9 G0GSE7516 55804442 55805125 683 3765
LIN9 SGSE7516 55804442 55805125 683 3765
Oct1 HelaGSE14283 55800079 55800115 36 8452
hScc1 BcellGSE12603 55803942 55804837 895 4159
hScc1 CdLSGSE12603 55804131 55804837 706 4065
hScc1 G2GSE9613 55804015 55804800 785 4141
hScc1 G2GSE9613 55807068 55808175 1107 927
p130 QuiescentGSE19898 55804359 55804917 558 3911
p130 SenescentGSE19898 55804301 55804964 663 3916
p130 shRbQuiescentGSE19898 55804386 55804957 571 3877
p130 shRbSenescentGSE19898 55804427 55804732 305 3969
p130 G0GSE7516 55804442 55805125 683 3765
p130 SGSE7516 55804442 55805056 614 3800
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55893200 55894944 1744 683
ER E2-MCF7GSE14664 55893477 55893523 46 111
Myc K562GSE19551 55893427 55893807 380 228
RARG MCF7GSE15244 55893619 55894161 542 501
hScc1 BcellGSE12603 55893223 55894824 1601 634
hScc1 CdLSGSE12603 55893165 55894775 1610 581
hScc1 G2GSE9613 55893259 55894016 757 248
hScc1 G2GSE9613 55894313 55894738 425 1136
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55856007 55856319 312 0
CTCF CD4GSE12889 55863027 55863436 409 0
CTCF CD4SISSRdata 55856007 55856319 312 0
CTCF CD4SISSRdata 55863027 55863436 409 0
CTCF HelaGSE12889 55863048 55863425 377 0
CTCF JurkatGSE12889 55853130 55853357 227 0
CTCF JurkatGSE12889 55863086 55863385 299 0
CTCF G2GSE9613 55812272 55812513 241 0
CTCF G2GSE9613 55813373 55813681 308 0
CTCF G2GSE9613 55813973 55814262 289 0
CTCF G2GSE9613 55824946 55825816 870 0
CTCF G2GSE9613 55827606 55827752 146 0
CTCF G2GSE9613 55830557 55830935 378 0
CTCF G2GSE9613 55834399 55834621 222 0
CTCF G2GSE9613 55838600 55838957 357 0
CTCF G2GSE9613 55839639 55839984 345 0
CTCF G2GSE9613 55840853 55841116 263 0
CTCF G2GSE9613 55849185 55849491 306 0
CTCF G2GSE9613 55851639 55852045 406 0
CTCF G2GSE9613 55852774 55854448 1674 0
CTCF G2GSE9613 55854837 55857408 2571 0
CTCF G2GSE9613 55858236 55859246 1010 0
CTCF G2GSE9613 55859633 55859985 352 0
CTCF G2GSE9613 55860282 55860744 462 0
CTCF G2GSE9613 55861091 55861900 809 0
CTCF G2GSE9613 55862911 55863997 1086 0
CTCF G2GSE9613 55865192 55865764 572 0
CTCF G2GSE9613 55867393 55867559 166 0
CTCF G2GSE9613 55868585 55870295 1710 0
CTCF G2GSE9613 55870603 55871408 805 0
CTCF G2GSE9613 55872166 55872893 727 0
CTCF G2GSE9613 55873220 55873564 344 0
CTCF G2GSE9613 55874077 55874318 241 0
CTCF G2GSE9613 55874582 55874786 204 0
CTCF G2GSE9613 55875180 55876087 907 0
CTCF G2GSE9613 55876333 55877559 1226 0
CTCF G2GSE9613 55878733 55879716 983 0
CTCF G2GSE9613 55880199 55881270 1071 0
CTCF G2GSE9613 55881539 55882815 1276 0
CTCF G2GSE9613 55883268 55883451 183 0
CTCF G2GSE9613 55885736 55886353 617 0
CTCF G2GSE9613 55888675 55889598 923 0
CTCF G2GSE9613 55890325 55890981 656 0
CTCF G2GSE9613 55891561 55891878 317 0
CTCF G2GSE9613 55892294 55892645 351 0
ER Fulvestrant-MCF7GSE14664 55879414 55879456 42 0
FOXA1 MCF7GSE15244 55852890 55854074 1184 0
FOXA1 MCF7GSE15244 55879206 55879506 300 0
H3ac HepG2E 55809651 55810363 712 0
H3ac HepG2E 55810625 55812127 1502 0
NRSF pAbJurkat 55813973 55814262 289 0
NRSF pAbJurkat 55840775 55841144 369 0
NRSF pAbJurkat 55872166 55872409 243 0
NRSF pAbJurkat 55881710 55883526 1816 0
NRSF pAbJurkat 55885808 55886849 1041 0
NRSF pAbJurkat 55888330 55888636 306 0
NRSF pAbJurkat 55892917 55893318 401 0
Oct1 HelaGSE14283 55809654 55809683 29 0
Oct1 HelaGSE14283 55837328 55837392 64 0
Oct1 HelaGSE14283 55875103 55875144 41 0
Oct1 HelaGSE14283 55877895 55877957 62 0
Oct1 HelaGSE14283 55879406 55879465 59 0
Oct1 HelaGSE14283 55887259 55887286 27 0
Oct1 HelaGSE14283 55893073 55893100 27 0
TAFII hESGSE17917 55863076 55863420 344 0
TFAP2C MCF7GSE21234 55845791 55846355 564 0
TFAP2C MCF7GSE21234 55847150 55847543 393 0
TFAP2C MCF7GSE21234 55855321 55855960 639 0
TFAP2C MCF7GSE21234 55862981 55863904 923 0
TFAP2C MCF7GSE21234 55873881 55874301 420 0
hScc1 BcellGSE12603 55852933 55853573 640 0
hScc1 BcellGSE12603 55855440 55856179 739 0
hScc1 BcellGSE12603 55862989 55863428 439 0
hScc1 BcellGSE12603 55879206 55879617 411 0
hScc1 BcellGSE12603 55881575 55881819 244 0
hScc1 BcellGSE12603 55890446 55890981 535 0
hScc1 CdLSGSE12603 55853187 55853865 678 0
hScc1 CdLSGSE12603 55862911 55863552 641 0
hScc1 G2GSE9613 55852854 55853897 1043 0
hScc1 G2GSE9613 55854837 55856209 1372 0
hScc1 G2GSE9613 55862911 55863783 872 0
p130 SenescentGSE19898 55820292 55820890 598 0
p130 shRbQuiescentGSE19898 55820162 55820766 604 0
p130 shRbQuiescentGSE19898 55828759 55829507 748 0
p130 shRbQuiescentGSE19898 55862940 55863681 741 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-205 hsa-mir-205 1 19665999
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-338-5p hsa-mir-338 17 19665999
hsa-miR-545 hsa-mir-545 X 19665999
hsa-miR-545* hsa-mir-545 X 19665999
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1167 Unknown pSILAC miR-1 LRP1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000123384 n_a n_a n_a "epithelium, muscle cell" "malignant tumour, sarcoma, benign tumour, carcinoma, leukaemia"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
6158 mRNA LRP1 chr12 55808548 55893390 112 EST chr12 55824669 55827669Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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