AutismKB 2.0

Annotation Detail for ITPR1


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Basic Information Top
Gene Symbol:ITPR1 ( DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 1
Band: 3p26.1
Quick LinksEntrez ID:3708; OMIM: 147265; Uniprot ID:ITPR1_HUMAN; ENSEMBL ID: ENSG00000150995; HGNC ID: 6180
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
482Phosphotyrosine (Potential).
704Phosphoserine.
1598Phosphoserine.
1764Phosphoserine.
2512N-linked (GlcNAc...).
2664Phosphotyrosine (Potential).
Location(AA) Modifications Resource
353Phosphotyrosine (Fyn)Phospho.ELM 6.0
482Phosphotyrosine (Potential).Swiss-Prot 53.0
1598Phosphoserine.Swiss-Prot 53.0
1598PhosphoserinePhospho.ELM 6.0
1764Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
2664Phosphotyrosine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
81N-linkedHMM predict
103N-linkedHMM predict
107N-linkedHMM predict
133Phosphothreonine(PKC)HMM predict
271O-linkedHMM predict
271Phosphoserine(PKG)HMM predict
273O-linkedHMM predict
274O-linkedHMM predict
274Phosphoserine(CK1)HMM predict
332Phosphoserine(CK2)HMM predict
421Phosphoserine(CDC2)HMM predict
642N-linkedHMM predict
658N-linkedHMM predict
661N-linkedHMM predict
770Phosphoserine(CK1)HMM predict
820SulfotyrosineHMM predict
826Phosphoserine(CK2)HMM predict
1005S-palmitoylHMM predict
1016Phosphoserine(CK1)HMM predict
1016Phosphoserine(ATM)HMM predict
1019Phosphoserine(CK2)HMM predict
1019O-linkedHMM predict
1021O-linkedHMM predict
1023Phosphoserine(ATM)HMM predict
1023Phosphoserine(IKK)HMM predict
1025N-linkedHMM predict
1027Phosphoserine(ATM)HMM predict
1058Phosphothreonine(MAPK)HMM predict
1098Phosphoserine(ATM)HMM predict
1098Phosphoserine(PKC)HMM predict
1165Phosphothreonine(CK2)HMM predict
1179Phosphoserine(CK1)HMM predict
1207Phosphoserine(PKG)HMM predict
1472N-linkedHMM predict
1473N-linkedHMM predict
1501Phosphoserine(CDK)HMM predict
1505Phosphoserine(ATM)HMM predict
1537Phosphoserine(ATM)HMM predict
1541Phosphoserine(IKK)HMM predict
1598Phosphoserine(PKG)HMM predict
1687Phosphothreonine(PKC)HMM predict
1719Phosphoserine(IKK)HMM predict
1721N-linkedHMM predict
1722Phosphoserine(CK1)HMM predict
1723Phosphothreonine(CK2)HMM predict
1729Phosphoserine(CDK)HMM predict
1764Phosphoserine(PKA)HMM predict
1764Phosphoserine(PKG)HMM predict
1764Phosphoserine(PKB)HMM predict
1822N-linkedHMM predict
1844N-linkedHMM predict
1886N-linkedHMM predict
1892N-linkedHMM predict
1948SulfotyrosineHMM predict
2001N-linkedHMM predict
2004N-linkedHMM predict
2006N-linkedHMM predict
2042N-linkedHMM predict
2114PhosphoserineHMM predict
2156Phosphoserine(CDC2)HMM predict
2237SulfotyrosineHMM predict
2246Phosphoserine(CK2)HMM predict
2484N-linkedHMM predict
2512N-linkedHMM predict
2515Phosphoserine(CDC2)HMM predict
2565Phosphoserine(PKC)HMM predict
2565Phosphoserine(PKG)HMM predict
2565PhosphoserineHMM predict
2565Phosphoserine(PKA)HMM predict
2631N-linkedHMM predict
2664Phosphotyrosine(INSR)HMM predict
2664Phosphotyrosine(Syk)HMM predict
2690Phosphoserine(IKK)HMM predict
2694Phosphoserine(CK1)HMM predict
2696Phosphoserine(CK2)HMM predict
2696Phosphoserine(CK1)HMM predict
2741IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002222
  • Location:chr3 4510135-4864078
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 4508887 4510054 1167 665
ETS1 JurkatGSE17954 4509411 4510844 1433 8
FOXA1 MCF7GSE15244 4507771 4508431 660 2035
FOXA1 MCF7GSE15244 4508959 4510136 1177 588
Oct1 H2O2-HelaGSE14283 4497082 4497115 33 13037
Oct1 HelaGSE14283 4497066 4497115 49 13045
P300 T0-glioblastomaGSE21026 4509238 4510255 1017 389
P300 T30-glioblastomaGSE21026 4509434 4510546 1112 146
PolII HeLaGSE12783 4508391 4511302 2911 289
RARG MCF7GSE15244 4508994 4509598 604 840
TAFII hESGSE17917 4509591 4510390 799 145
hScc1 BcellGSE12603 4509411 4510650 1239 105
hScc1 G2GSE9613 4508887 4509448 561 968
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 4865737 4868755 3018 3168
NFkBII GM12892GSE19485 4866380 4868657 2277 3440
Oct1 H2O2-HelaGSE14283 4871447 4871477 30 7384
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 4836654 4839748 3094 0
CBP T30-glioblastomaGSE21026 4847468 4848765 1297 0
CTCF CD4GSE12889 4535732 4535911 179 0
CTCF CD4GSE12889 4650161 4650459 298 0
CTCF CD4GSE12889 4728081 4728335 254 0
CTCF CD4GSE12889 4838750 4839013 263 0
CTCF CD4SISSRdata 4535732 4535911 179 0
CTCF CD4SISSRdata 4650161 4650459 298 0
CTCF CD4SISSRdata 4728081 4728335 254 0
CTCF CD4SISSRdata 4838750 4839013 263 0
CTCF JurkatGSE12889 4650165 4650349 184 0
CTCF G2GSE9613 4522214 4522378 164 0
CTCF G2GSE9613 4649934 4650434 500 0
CTCF G2GSE9613 4672723 4673151 428 0
CTCF G2GSE9613 4700085 4700338 253 0
CTCF G2GSE9613 4738765 4739054 289 0
CTCF G2GSE9613 4758565 4758786 221 0
CTCF G2GSE9613 4785266 4785551 285 0
CTCF G2GSE9613 4824677 4824820 143 0
CTCF G2GSE9613 4825397 4825593 196 0
CTCF G2GSE9613 4840899 4841399 500 0
CTCF G2GSE9613 4842491 4842783 292 0
ER MCF7GSE19013 4667172 4668039 867 0
ER MCF7GSE19013 4799370 4799870 500 0
FOXA1 MCF7GSE15244 4515192 4515410 218 0
FOXA1 MCF7GSE15244 4521057 4521526 469 0
FOXA1 MCF7GSE15244 4540470 4541417 947 0
FOXA1 MCF7GSE15244 4550358 4551080 722 0
FOXA1 MCF7GSE15244 4581595 4583570 1975 0
FOXA1 MCF7GSE15244 4584586 4584755 169 0
FOXA1 MCF7GSE15244 4597174 4598254 1080 0
FOXA1 MCF7GSE15244 4702878 4703681 803 0
FOXA1 MCF7GSE15244 4704212 4705455 1243 0
FOXA1 MCF7GSE15244 4730201 4731055 854 0
FOXA1 MCF7GSE15244 4732673 4734866 2193 0
FOXA1 MCF7GSE15244 4736915 4737533 618 0
FOXA1 MCF7GSE15244 4738403 4739054 651 0
FOXA1 MCF7GSE15244 4758080 4758828 748 0
FOXA1 MCF7GSE15244 4760856 4761357 501 0
FOXA1 MCF7GSE15244 4761897 4762400 503 0
FOXA1 MCF7GSE15244 4766574 4767141 567 0
FOXA1 MCF7GSE15244 4788877 4789253 376 0
FOXA1 MCF7GSE15244 4793070 4793246 176 0
FOXA1 MCF7GSE15244 4841216 4842712 1496 0
Fos K562GSE19551 4547897 4548701 804 0
FoxA1 MCF7MACSdata 4703895 4704272 377 0
Gata2 K562GSE18868 4547918 4548673 755 0
Gata2 K562GSE18868 4660499 4661750 1251 0
H3ac HepG2E 4510136 4512820 2684 0
Myc hESGSE17917 4752189 4752409 220 0
NFkBII GM12878GSE19485 4847042 4848778 1736 0
NFkBII GM12878GSE19485 4861688 4864400 2712 0
NFkBII GM15510GSE19485 4509377 4512017 2640 0
Nanog hESGSE18292 4613428 4613678 250 0
Nanog hESGSE18292 4650028 4650376 348 0
Nanog hESGSE18292 4714662 4714942 280 0
Oct1 H2O2-HelaGSE14283 4574428 4574459 31 0
Oct1 H2O2-HelaGSE14283 4807888 4807923 35 0
Oct1 HelaGSE14283 4518106 4518136 30 0
Oct1 HelaGSE14283 4574429 4574458 29 0
Oct1 HelaGSE14283 4807889 4807921 32 0
Oct1 HelaGSE14283 4834933 4834977 44 0
Oct4 hESGSE17917 4728160 4728384 224 0
P300 T0-glioblastomaGSE21026 4696522 4697548 1026 0
P300 T30-glioblastomaGSE21026 4672606 4673389 783 0
P300 T30-glioblastomaGSE21026 4757831 4758957 1126 0
P300 T30-glioblastomaGSE21026 4830694 4831782 1088 0
P300 T30-glioblastomaGSE21026 4847321 4848996 1675 0
P300 T30-glioblastomaGSE21026 4858507 4859120 613 0
Pol2 GM12878GSE19551 4509656 4510770 1114 0
RARA MCF7GSE15244 4510961 4511361 400 0
RARA MCF7GSE15244 4521057 4521526 469 0
RARA MCF7GSE15244 4540754 4541417 663 0
RARA MCF7GSE15244 4547567 4548205 638 0
RARA MCF7GSE15244 4549692 4551381 1689 0
RARA MCF7GSE15244 4581595 4584163 2568 0
RARA MCF7GSE15244 4584586 4585305 719 0
RARA MCF7GSE15244 4701895 4702398 503 0
RARA MCF7GSE15244 4704212 4705521 1309 0
RARA MCF7GSE15244 4709196 4709488 292 0
RARA MCF7GSE15244 4728145 4730765 2620 0
RARA MCF7GSE15244 4731917 4732224 307 0
RARA MCF7GSE15244 4733081 4735457 2376 0
RARA MCF7GSE15244 4736776 4737569 793 0
RARA MCF7GSE15244 4738145 4739091 946 0
RARA MCF7GSE15244 4745681 4746653 972 0
RARA MCF7GSE15244 4757970 4759050 1080 0
RARA MCF7GSE15244 4760061 4760472 411 0
RARA MCF7GSE15244 4760823 4761357 534 0
RARA MCF7GSE15244 4766574 4768494 1920 0
RARA MCF7GSE15244 4775967 4777036 1069 0
RARA MCF7GSE15244 4788355 4789288 933 0
RARA MCF7GSE15244 4793070 4794696 1626 0
RARA MCF7GSE15244 4841434 4843261 1827 0
RARA MCF7GSE15244 4844683 4845046 363 0
RARG MCF7GSE15244 4510961 4511361 400 0
RARG MCF7GSE15244 4520955 4521526 571 0
RARG MCF7GSE15244 4540470 4541417 947 0
RARG MCF7GSE15244 4550431 4551245 814 0
RARG MCF7GSE15244 4581595 4583872 2277 0
RARG MCF7GSE15244 4584586 4585441 855 0
RARG MCF7GSE15244 4596963 4598330 1367 0
RARG MCF7GSE15244 4660718 4661215 497 0
RARG MCF7GSE15244 4668600 4668991 391 0
RARG MCF7GSE15244 4702878 4703741 863 0
RARG MCF7GSE15244 4704212 4705455 1243 0
RARG MCF7GSE15244 4728890 4729539 649 0
RARG MCF7GSE15244 4736573 4737420 847 0
RARG MCF7GSE15244 4757970 4759013 1043 0
RARG MCF7GSE15244 4760028 4760472 444 0
RARG MCF7GSE15244 4760856 4761357 501 0
RARG MCF7GSE15244 4763255 4763824 569 0
RARG MCF7GSE15244 4766343 4767248 905 0
RARG MCF7GSE15244 4775635 4777036 1401 0
RARG MCF7GSE15244 4793070 4793360 290 0
RARG MCF7GSE15244 4808307 4808520 213 0
RARG MCF7GSE15244 4841184 4843593 2409 0
RARG MCF7GSE15244 4847722 4848317 595 0
STAT1 HeLaGSE12782 4580011 4583996 3985 0
STAT1 HeLaGSE12783 4580011 4583908 3897 0
STAT1 HeLaGSE12783 4611586 4615238 3652 0
STAT1 HeLaGSE12783 4719503 4720522 1019 0
STAT1 IFNSISSRdata 4719746 4720317 571 0
TAF k562GSE8489 4510541 4512898 2357 0
TFAP2C MCF7GSE21234 4582929 4583360 431 0
TFAP2C MCF7GSE21234 4703746 4704294 548 0
TFAP2C MCF7GSE21234 4726082 4726529 447 0
TFAP2C MCF7GSE21234 4728157 4728712 555 0
TFAP2C MCF7GSE21234 4758251 4758807 556 0
TFAP2C MCF7GSE21234 4760915 4761674 759 0
TFAP2C MCF7GSE21234 4837977 4838505 528 0
USF1 HepG2E 4764980 4766760 1780 0
hScc1 BcellGSE12603 4601051 4601516 465 0
hScc1 BcellGSE12603 4649934 4650502 568 0
hScc1 BcellGSE12603 4728036 4728612 576 0
hScc1 BcellGSE12603 4738694 4739091 397 0
hScc1 BcellGSE12603 4753182 4753374 192 0
hScc1 BcellGSE12603 4769984 4770226 242 0
hScc1 BcellGSE12603 4847686 4848241 555 0
hScc1 CdLSGSE12603 4588327 4588716 389 0
hScc1 CdLSGSE12603 4649934 4650470 536 0
hScc1 CdLSGSE12603 4727932 4728612 680 0
hScc1 CdLSGSE12603 4737277 4737969 692 0
hScc1 CdLSGSE12603 4738624 4739205 581 0
hScc1 CdLSGSE12603 4793311 4794085 774 0
hScc1 CdLSGSE12603 4847387 4848241 854 0
hScc1 G2GSE9613 4841148 4841761 613 0
hScc1 G2GSE9613 4850282 4850557 275 0
p130 SenescentGSE19898 4758334 4758816 482 0
p130 shRbSenescentGSE19898 4758458 4758630 172 0
p63 keratinocytesGSE17611 4598631 4599555 924 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-205 hsa-mir-205 1 20065103
hsa-miR-224 hsa-mir-224 X 20065103
hsa-miR-335 hsa-mir-335 7 20065103
hsa-miR-335* hsa-mir-335 7 20065103
hsa-miR-424 hsa-mir-424 X 20065103
hsa-miR-424* hsa-mir-424 X 20065103
hsa-miR-451 hsa-mir-451 17 20065103
hsa-miR-491-3p hsa-mir-491 9 20065103
hsa-miR-491-5p hsa-mir-491 9 20065103
hsa-miR-93 hsa-mir-93 7 20065103
hsa-miR-93* hsa-mir-93 7 20065103
No data
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
17724 mRNA ITPR1 chr3 4510135 4864079 130 EST chr3 4830995 4831857Sense/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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