AutismKB 2.0

Annotation Detail for IRS1


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Basic Information Top
Gene Symbol:IRS1 ( HIRS-1 )
Gene Full Name: insulin receptor substrate 1
Band: 2q36.3
Quick LinksEntrez ID:3667; OMIM: 147545; Uniprot ID:IRS1_HUMAN; ENSEMBL ID: ENSG00000169047; HGNC ID: 6125
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3Phosphoserine (By similarity).
46Phosphotyrosine.
99Phosphoserine; by CK2 (By similarity).
312Phosphoserine (By similarity).
329Phosphoserine (By similarity).
345Phosphoserine (By similarity).
348Phosphoserine.
465Phosphotyrosine; by INSR (By similarity).
468YXXM motif 1.
531Phosphoserine.
554YXXM motif 2.
612Phosphotyrosine; by INSR.
615YXXM motif 3.
629Phosphoserine.
632Phosphotyrosine; by INSR.
635YXXM motif 4.
636Phosphoserine.
662Phosphotyrosine.
665YXXM motif 5.
735YXXM motif 6.
794Phosphoserine; by SNF1LK2.
896Phosphotyrosine; by INSR (By similarity).
941Phosphotyrosine; by INSR (By similarity).
944YXXM motif 7.
989Phosphotyrosine; by INSR (By similarity).
992YXXM motif 8.
1015YXXM motif 9.
1078Phosphoserine.
1101Phosphoserine.
1145Phosphoserine (By similarity).
1179Phosphotyrosine; by INSR (By similarity).
1223Phosphoserine (By similarity).
1229Phosphotyrosine; by INSR (By similarity).
Location(AA) Modifications Resource
3Phosphoserine (By similarity).Swiss-Prot 53.0
24Phosphoserine (CK2
46PhosphotyrosinePhospho.ELM 6.0
46Phosphotyrosine.Swiss-Prot 53.0
99Phosphoserine (by CK2) (By similarity).Swiss-Prot 53.0
268Phosphoserine (IKK
270Phosphoserine (IKK
272Phosphoserine (IKK
274Phosphoserine (IKK
307Phosphoserine (PKC delta;IK)Phospho.ELM 6.0
312Phosphoserine (By similarity).Swiss-Prot 53.0
312Phosphoserine (MAPK8;IKK
323Phosphoserine (PKC zeta)Phospho.ELM 6.0
329Phosphoserine (By similarity).Swiss-Prot 53.0
341Phosphoserine (IKK
345Phosphoserine (IKK
345Phosphoserine (By similarity).Swiss-Prot 53.0
348PhosphoserinePhospho.ELM 6.0
374PhosphoserinePhospho.ELM 6.0
465Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
527Phosphoserine (IKK
530PhosphothreoninePhospho.ELM 6.0
531Phosphoserine (IKK
574Phosphoserine (PKC delta)Phospho.ELM 6.0
612PhosphotyrosinePhospho.ELM 6.0
612Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
616Phosphoserine (MAPK3)Phospho.ELM 6.0
629PhosphoserinePhospho.ELM 6.0
629Phosphoserine.Swiss-Prot 53.0
632PhosphotyrosinePhospho.ELM 6.0
632Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
636Phosphoserine.Swiss-Prot 53.0
636PhosphoserinePhospho.ELM 6.0
639PhosphoserinePhospho.ELM 6.0
662PhosphotyrosinePhospho.ELM 6.0
662Phosphotyrosine.Swiss-Prot 53.0
794Phosphoserine (SIK)Phospho.ELM 6.0
794Phosphoserine (by SNF1LK2).Swiss-Prot 53.0
892PhosphoserinePhospho.ELM 6.0
896Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
896PhosphotyrosinePhospho.ELM 6.0
941Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
989Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
1078PhosphoserinePhospho.ELM 6.0
1101Phosphoserine.Swiss-Prot 53.0
1101Phosphoserine (PKC theta)Phospho.ELM 6.0
1145PhosphoserinePhospho.ELM 6.0
1145Phosphoserine (By similarity).Swiss-Prot 53.0
1179Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
1222PhosphoserinePhospho.ELM 6.0
1223PhosphoserinePhospho.ELM 6.0
1223Phosphoserine (By similarity).Swiss-Prot 53.0
1229Phosphotyrosine (by INSR) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
99Phosphoserine(CK2)HMM predict
137Phosphoserine(ATM)HMM predict
151SulfotyrosineHMM predict
268Phosphoserine(IKK)HMM predict
270Phosphoserine(IKK)HMM predict
272Phosphoserine(IKK)HMM predict
274Phosphoserine(IKK)HMM predict
275N-linkedHMM predict
278N-linkedHMM predict
300Phosphothreonine(PKC)HMM predict
303Phosphoserine(PKA)HMM predict
307O-linkedHMM predict
307Phosphoserine(IKK)HMM predict
307Phosphoserine(PKB)HMM predict
309O-linkedHMM predict
311O-linkedHMM predict
312Phosphoserine(IKK)HMM predict
312PhosphoserineHMM predict
329Phosphoserine(PKG)HMM predict
329Phosphoserine(CK2)HMM predict
341Phosphoserine(CAMK2)HMM predict
341Phosphoserine(IKK)HMM predict
345O-linkedHMM predict
345Phosphoserine(CDC2)HMM predict
345Phosphoserine(IKK)HMM predict
345PhosphoserineHMM predict
348Phosphoserine(CDC2)HMM predict
348Phosphoserine(IKK)HMM predict
352N-linkedHMM predict
362Phosphoserine(PKA)HMM predict
370N-linkedHMM predict
372O-linkedHMM predict
374O-linkedHMM predict
383O-linkedHMM predict
383Phosphoserine(MAPK)HMM predict
385O-linkedHMM predict
387O-linkedHMM predict
388Phosphoserine(CDC2)HMM predict
388Phosphoserine(MAPK)HMM predict
388Phosphoserine(IKK)HMM predict
391O-linkedHMM predict
391Phosphoserine(IKK)HMM predict
393Phosphoserine(CK2)HMM predict
393Phosphoserine(IKK)HMM predict
395Phosphoserine(CK1)HMM predict
396Phosphoserine(CK1)HMM predict
397O-linkedHMM predict
398Phosphoserine(CK1)HMM predict
398Phosphoserine(CK2)HMM predict
398Phosphoserine(IKK)HMM predict
413Phosphoserine(PKG)HMM predict
413Phosphoserine(PKB)HMM predict
415O-linkedHMM predict
415Phosphoserine(CAMK2)HMM predict
415Phosphoserine(IKK)HMM predict
417Phosphoserine(IKK)HMM predict
419Phosphoserine(CDC2)HMM predict
419Phosphoserine(ATM)HMM predict
419Phosphoserine(IKK)HMM predict
427Phosphoserine(CK2)HMM predict
431SulfotyrosineHMM predict
446Phosphothreonine(PKA)HMM predict
453Phosphothreonine(MAPK)HMM predict
465Phosphotyrosine(INSR)HMM predict
487MethylarginineHMM predict
495Phosphothreonine(PKA)HMM predict
525Phosphothreonine(PKA)HMM predict
527O-linkedHMM predict
527Phosphoserine(CAMK2)HMM predict
527Phosphoserine(IKK)HMM predict
531O-linkedHMM predict
531Phosphoserine(CDC2)HMM predict
531Phosphoserine(IKK)HMM predict
533O-linkedHMM predict
539Phosphothreonine(MAPK)HMM predict
539Phosphothreonine(CDK)HMM predict
541PhosphoserineHMM predict
547Phosphoserine(CK1)HMM predict
551Phosphotyrosine(Syk)HMM predict
551SulfotyrosineHMM predict
612Phosphotyrosine(INSR)HMM predict
612Phosphotyrosine(Syk)HMM predict
612PhosphotyrosineHMM predict
612SulfotyrosineHMM predict
624O-linkedHMM predict
632Phosphotyrosine(INSR)HMM predict
632Phosphotyrosine(Jak)HMM predict
632Phosphotyrosine(Syk)HMM predict
639Phosphoserine(IKK)HMM predict
641Phosphoserine(IKK)HMM predict
662Phosphotyrosine(INSR)HMM predict
662Phosphotyrosine(Syk)HMM predict
672Phosphoserine(ATM)HMM predict
681O-linkedHMM predict
682O-linkedHMM predict
683Phosphoserine(CK1)HMM predict
684Phosphoserine(CK1)HMM predict
685Phosphoserine(CK1)HMM predict
732Phosphotyrosine(INSR)HMM predict
734N-linkedHMM predict
741Phosphoserine(IKK)HMM predict
742N-linkedHMM predict
744O-linkedHMM predict
744Phosphoserine(CK1)HMM predict
745Phosphoserine(CDK)HMM predict
745Phosphoserine(IKK)HMM predict
750Phosphotyrosine(Syk)HMM predict
751Phosphotyrosine(Syk)HMM predict
751SulfotyrosineHMM predict
772MethyllysineHMM predict
792Phosphoserine(CK1)HMM predict
807O-linkedHMM predict
807Phosphoserine(IKK)HMM predict
808Phosphoserine(CK1)HMM predict
809Phosphoserine(CK1)HMM predict
811O-linkedHMM predict
813Phosphoserine(CK1)HMM predict
815O-linkedHMM predict
851Phosphothreonine(PKC)HMM predict
870Phosphothreonine(PKC)HMM predict
896Phosphotyrosine(INSR)HMM predict
896Phosphotyrosine(SRC)HMM predict
896PhosphotyrosineHMM predict
908Phosphotyrosine(Jak)HMM predict
910Phosphoserine(ATM)HMM predict
941Phosphotyrosine(INSR)HMM predict
941Phosphotyrosine(SRC)HMM predict
941Phosphotyrosine(Jak)HMM predict
941Phosphotyrosine(Syk)HMM predict
979O-linkedHMM predict
985O-linkedHMM predict
989Phosphotyrosine(INSR)HMM predict
989Phosphotyrosine(Syk)HMM predict
991Phosphothreonine(INSR)HMM predict
1030O-linkedHMM predict
1035O-linkedHMM predict
1038O-linkedHMM predict
1041O-linkedHMM predict
1043O-linkedHMM predict
1043Phosphoserine(CDC2)HMM predict
1043Phosphoserine(IKK)HMM predict
1078Phosphoserine(CDC2)HMM predict
1100Phosphoserine(PKA)HMM predict
1100Phosphoserine(PKG)HMM predict
1101Phosphoserine(PKA)HMM predict
1101Phosphoserine(PKB)HMM predict
1103O-linkedHMM predict
1105O-linkedHMM predict
1107O-linkedHMM predict
1107O-linkedHMM predict
1107Phosphothreonine(MAPK)HMM predict
1109O-linkedHMM predict
1111O-linkedHMM predict
1133Phosphoserine(CK2)HMM predict
1134PhosphoserineHMM predict
1142Phosphoserine(PKA)HMM predict
1143Phosphoserine(PKB)HMM predict
1179Phosphotyrosine(INSR)HMM predict
1196Phosphothreonine(CDC2)HMM predict
1196Phosphothreonine(MAPK)HMM predict
1196PhosphothreonineHMM predict
1219Phosphothreonine(PKC)HMM predict
1223Phosphoserine(CAMK2)HMM predict
1229Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005544
  • Location:chr2 227308181-227372718
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 227375488 227375867 379 2959
CTCF CD4SISSRdata 227375488 227375867 379 2959
CTCF G2GSE9613 227372566 227373379 813 254
CTCF G2GSE9613 227375514 227375822 308 2950
CTCF G2GSE9613 227386133 227386514 381 13605
FOXA1 MCF7GSE15244 227373240 227374106 866 955
FoxA1 MCF7MACSdata 227373559 227373768 209 945
H3K4me3 colorectalcancer 227373582 227373898 316 1022
Myc K562GSE19551 227386189 227386432 243 13592
NRSF JurkatGSE13047 227383545 227384451 906 11280
NRSF mAbJurkat 227379788 227381241 1453 7796
NRSF mAbJurkat 227381865 227382981 1116 9705
NRSF mAbJurkat 227383754 227384233 479 11275
NRSF mAbJurkat 227384563 227385215 652 12171
NRSF mAbJurkat 227385615 227387980 2365 14079
NRSF-mono JurkatQuESTdata 227383767 227384444 677 11387
NRSF-poly JurkatQuESTdata 227383502 227384514 1012 11290
Nanog ESGSE20650 227386134 227386613 479 13655
Nanog hESGSE18292 227385901 227386540 639 13502
Oct4 hESGSE17917 227386212 227386587 375 13681
Sox2 hESGSE18292 227386226 227386631 405 13710
hScc1 BcellGSE12603 227375442 227375822 380 2914
hScc1 BcellGSE12603 227386133 227386693 560 13695
hScc1 CdLSGSE12603 227375368 227375859 491 2895
hScc1 CdLSGSE12603 227386025 227386693 668 13641
hScc1 G2GSE9613 227371996 227373455 1459 7
hScc1 G2GSE9613 227375402 227375971 569 2968
hScc1 G2GSE9613 227386097 227386514 417 13587
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 227295189 227295437 248 12869
USF2 HepG2E 227305716 227305956 240 2346
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 227324031 227324203 172 0
CTCF G2GSE9613 227364521 227364798 277 0
CTCF G2GSE9613 227368713 227369245 532 0
CTCF G2GSE9613 227370343 227371132 789 0
FOXA1 MCF7GSE15244 227311409 227312263 854 0
FOXA1 MCF7GSE15244 227368791 227369472 681 0
Fos K562GSE19551 227364575 227364938 363 0
Myc K562GSE19551 227364435 227365025 590 0
Rb SenescentGSE19898 227370543 227371142 599 0
Rb shRbSenescenceGSE19898 227364045 227364299 254 0
SRF HelaGSE8489 227327580 227328193 613 0
TFAP2C MCF7GSE21234 227368467 227369459 992 0
TFAP2C MCF7GSE21234 227369558 227370094 536 0
hScc1 BcellGSE12603 227340884 227341134 250 0
p130 SenescentGSE19898 227370305 227371130 825 0
p130 shRbSenescentGSE19898 227364108 227364768 660 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-126 hsa-mir-126 9 18834857
hsa-miR-126* hsa-mir-126 9 18834857
hsa-miR-145 hsa-mir-145 5 19391107
hsa-miR-145 hsa-mir-145 5 17827156
hsa-miR-145* hsa-mir-145 5 19391107
hsa-miR-145* hsa-mir-145 5 17827156
hsa-miR-183 hsa-mir-183 7 18511500
hsa-miR-183* hsa-mir-183 7 18511500
hsa-miR-194 hsa-mir-194-1 1 21183973
hsa-miR-194 hsa-mir-194-2 11 21183973
hsa-miR-337-3p hsa-mir-337 14 21183973
hsa-miR-34a hsa-mir-34a 1 18834857
hsa-miR-34a* hsa-mir-34a 1 18834857
hsa-miR-361-3p hsa-mir-361 X 21183973
hsa-miR-361-5p hsa-mir-361 X 21183973
hsa-miR-7 hsa-mir-7-1 9 21183973
hsa-miR-7 hsa-mir-7-2 15 21183973
hsa-miR-7 hsa-mir-7-3 19 21183973
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
467 mRNA repression TRUE miR-145 IRS1 Luciferase assay 17827156
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000169047 n_a colorectal adenocarcinomas n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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
15729 EST chr2 227486043 227498688 161 mRNA IRS1 chr2 227425442 227489980Sense/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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