AutismKB 2.0

Annotation Detail for MUC1


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Basic Information Top
Gene Symbol:MUC1 ( CD227,EMA,H23AG,KL-6,MAM6,PEM,PEMT,PUM )
Gene Full Name: mucin 1, cell surface associated
Band: 1q22
Quick LinksEntrez ID:4582; OMIM: 158340; Uniprot ID:MUC1_HUMAN; ENSEMBL ID: ENSG00000185499; HGNC ID: 7508
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
131O-linked (GalNAc...) (Probable).
139O-linked (GalNAc...) (Probable).
140O-linked (GalNAc...) (Potential).
144O-linked (GalNAc...) (Potential).
957N-linked (GlcNAc...) (Potential).
975N-linked (GlcNAc...) (Potential).
1029N-linked (GlcNAc...) (Potential).
1055N-linked (GlcNAc...) (Potential).
1133N-linked (GlcNAc...) (Potential).
1191Phosphotyrosine.
1203Phosphotyrosine; by PDGFR.
1206Interaction with GRB2.
1209Phosphotyrosine.
1212Phosphotyrosine.
1218Phosphotyrosine; by PDGFR.
1224Phosphothreonine; by PKC/PRKCD.
1227Phosphoserine; by GSK3-beta.
1229Phosphotyrosine; by CSK, EGFR and SRC.
1232Interaction with SRC and ESR1.
1243Phosphotyrosine.
1246Required for interaction with AP1S2.
Location(AA) Modifications Resource
5O-linkedOGlycBase6.0
6O-linkedOGlycBase6.0
9O-linkedOGlycBase6.0
14O-linkedOGlycBase6.0
15O-linkedOGlycBase6.0
19O-linkedOGlycBase6.0
20O-linkedOGlycBase6.0
21O-linkedOGlycBase6.0
131O-linkedOGlycBase6.0
139O-linkedOGlycBase6.0
151O-linkedOGlycBase6.0
159O-linkedOGlycBase6.0
171O-linkedOGlycBase6.0
179O-linkedOGlycBase6.0
191O-linkedOGlycBase6.0
199O-linkedOGlycBase6.0
211O-linkedOGlycBase6.0
219O-linkedOGlycBase6.0
231O-linkedOGlycBase6.0
239O-linkedOGlycBase6.0
251O-linkedOGlycBase6.0
259O-linkedOGlycBase6.0
271O-linkedOGlycBase6.0
279O-linkedOGlycBase6.0
291O-linkedOGlycBase6.0
299O-linkedOGlycBase6.0
311O-linkedOGlycBase6.0
319O-linkedOGlycBase6.0
331O-linkedOGlycBase6.0
339O-linkedOGlycBase6.0
351O-linkedOGlycBase6.0
359O-linkedOGlycBase6.0
371O-linkedOGlycBase6.0
379O-linkedOGlycBase6.0
391O-linkedOGlycBase6.0
399O-linkedOGlycBase6.0
411O-linkedOGlycBase6.0
419O-linkedOGlycBase6.0
431O-linkedOGlycBase6.0
439O-linkedOGlycBase6.0
451O-linkedOGlycBase6.0
459O-linkedOGlycBase6.0
471O-linkedOGlycBase6.0
479O-linkedOGlycBase6.0
491O-linkedOGlycBase6.0
499O-linkedOGlycBase6.0
511O-linkedOGlycBase6.0
519O-linkedOGlycBase6.0
531O-linkedOGlycBase6.0
539O-linkedOGlycBase6.0
551O-linkedOGlycBase6.0
559O-linkedOGlycBase6.0
571O-linkedOGlycBase6.0
579O-linkedOGlycBase6.0
591O-linkedOGlycBase6.0
599O-linkedOGlycBase6.0
611O-linkedOGlycBase6.0
619O-linkedOGlycBase6.0
631O-linkedOGlycBase6.0
639O-linkedOGlycBase6.0
651O-linkedOGlycBase6.0
659O-linkedOGlycBase6.0
671O-linkedOGlycBase6.0
679O-linkedOGlycBase6.0
691O-linkedOGlycBase6.0
699O-linkedOGlycBase6.0
711O-linkedOGlycBase6.0
719O-linkedOGlycBase6.0
731O-linkedOGlycBase6.0
739O-linkedOGlycBase6.0
751O-linkedOGlycBase6.0
759O-linkedOGlycBase6.0
771O-linkedOGlycBase6.0
779O-linkedOGlycBase6.0
791O-linkedOGlycBase6.0
799O-linkedOGlycBase6.0
811O-linkedOGlycBase6.0
819O-linkedOGlycBase6.0
831O-linkedOGlycBase6.0
839O-linkedOGlycBase6.0
851O-linkedOGlycBase6.0
859O-linkedOGlycBase6.0
871O-linkedOGlycBase6.0
879O-linkedOGlycBase6.0
891O-linkedOGlycBase6.0
899O-linkedOGlycBase6.0
911O-linkedOGlycBase6.0
919O-linkedOGlycBase6.0
931O-linkedOGlycBase6.0
939O-linkedOGlycBase6.0
957N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
975N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1029N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1055N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1133N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1203PhosphotyrosinePhospho.ELM 6.0
1224Phosphothreonine (PKC delta)Phospho.ELM 6.0
1227Phosphoserine (GSK-3beta)Phospho.ELM 6.0
1229Phosphotyrosine (Src;EGFR)Phospho.ELM 6.0
1243PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
29O-linkedHMM predict
30Phosphothreonine(MAPK)HMM predict
30Phosphothreonine(CDK)HMM predict
40Phosphothreonine(PKC)HMM predict
43O-linkedHMM predict
44Phosphoserine(IKK)HMM predict
44Phosphoserine(PKB)HMM predict
47Phosphoserine(CK1)HMM predict
62Phosphoserine(CK1)HMM predict
65Phosphoserine(MAPK)HMM predict
65Phosphoserine(ATM)HMM predict
68O-linkedHMM predict
68Phosphoserine(IKK)HMM predict
70Phosphoserine(IKK)HMM predict
90O-linkedHMM predict
110O-linkedHMM predict
130O-linkedHMM predict
130Phosphoserine(IKK)HMM predict
131O-linkedHMM predict
139O-linkedHMM predict
150O-linkedHMM predict
150O-linkedHMM predict
150Phosphoserine(IKK)HMM predict
159O-linkedHMM predict
170O-linkedHMM predict
170O-linkedHMM predict
170Phosphoserine(IKK)HMM predict
179O-linkedHMM predict
190O-linkedHMM predict
190O-linkedHMM predict
190Phosphoserine(IKK)HMM predict
199O-linkedHMM predict
210O-linkedHMM predict
210O-linkedHMM predict
210Phosphoserine(IKK)HMM predict
219O-linkedHMM predict
230O-linkedHMM predict
230O-linkedHMM predict
230Phosphoserine(IKK)HMM predict
239O-linkedHMM predict
250O-linkedHMM predict
250O-linkedHMM predict
250Phosphoserine(IKK)HMM predict
259O-linkedHMM predict
270O-linkedHMM predict
270O-linkedHMM predict
270Phosphoserine(IKK)HMM predict
279O-linkedHMM predict
290O-linkedHMM predict
290O-linkedHMM predict
290Phosphoserine(IKK)HMM predict
299O-linkedHMM predict
310O-linkedHMM predict
310O-linkedHMM predict
310Phosphoserine(IKK)HMM predict
319O-linkedHMM predict
330O-linkedHMM predict
330O-linkedHMM predict
330Phosphoserine(IKK)HMM predict
339O-linkedHMM predict
350O-linkedHMM predict
350O-linkedHMM predict
350Phosphoserine(IKK)HMM predict
359O-linkedHMM predict
370O-linkedHMM predict
370O-linkedHMM predict
370Phosphoserine(IKK)HMM predict
379O-linkedHMM predict
390O-linkedHMM predict
390O-linkedHMM predict
390Phosphoserine(IKK)HMM predict
399O-linkedHMM predict
410O-linkedHMM predict
410O-linkedHMM predict
410Phosphoserine(IKK)HMM predict
419O-linkedHMM predict
430O-linkedHMM predict
430O-linkedHMM predict
430Phosphoserine(IKK)HMM predict
439O-linkedHMM predict
450O-linkedHMM predict
450O-linkedHMM predict
450Phosphoserine(IKK)HMM predict
459O-linkedHMM predict
470O-linkedHMM predict
470O-linkedHMM predict
470Phosphoserine(IKK)HMM predict
479O-linkedHMM predict
490O-linkedHMM predict
490O-linkedHMM predict
490Phosphoserine(IKK)HMM predict
499O-linkedHMM predict
510O-linkedHMM predict
510O-linkedHMM predict
510Phosphoserine(IKK)HMM predict
519O-linkedHMM predict
530O-linkedHMM predict
530O-linkedHMM predict
530Phosphoserine(IKK)HMM predict
539O-linkedHMM predict
550O-linkedHMM predict
550O-linkedHMM predict
550Phosphoserine(IKK)HMM predict
559O-linkedHMM predict
570O-linkedHMM predict
570O-linkedHMM predict
570Phosphoserine(IKK)HMM predict
579O-linkedHMM predict
590O-linkedHMM predict
590O-linkedHMM predict
590Phosphoserine(IKK)HMM predict
599O-linkedHMM predict
610O-linkedHMM predict
610O-linkedHMM predict
610Phosphoserine(IKK)HMM predict
619O-linkedHMM predict
630O-linkedHMM predict
630O-linkedHMM predict
630Phosphoserine(IKK)HMM predict
639O-linkedHMM predict
650O-linkedHMM predict
650O-linkedHMM predict
650Phosphoserine(IKK)HMM predict
659O-linkedHMM predict
670O-linkedHMM predict
670O-linkedHMM predict
670Phosphoserine(IKK)HMM predict
679O-linkedHMM predict
690O-linkedHMM predict
690O-linkedHMM predict
690Phosphoserine(IKK)HMM predict
699O-linkedHMM predict
710O-linkedHMM predict
710O-linkedHMM predict
710Phosphoserine(IKK)HMM predict
719O-linkedHMM predict
730O-linkedHMM predict
730O-linkedHMM predict
730Phosphoserine(IKK)HMM predict
739O-linkedHMM predict
750O-linkedHMM predict
750O-linkedHMM predict
750Phosphoserine(IKK)HMM predict
759O-linkedHMM predict
770O-linkedHMM predict
770O-linkedHMM predict
770Phosphoserine(IKK)HMM predict
779O-linkedHMM predict
790O-linkedHMM predict
790O-linkedHMM predict
790Phosphoserine(IKK)HMM predict
799O-linkedHMM predict
810O-linkedHMM predict
810O-linkedHMM predict
810Phosphoserine(IKK)HMM predict
819O-linkedHMM predict
830O-linkedHMM predict
830O-linkedHMM predict
830Phosphoserine(IKK)HMM predict
839O-linkedHMM predict
850O-linkedHMM predict
850O-linkedHMM predict
850Phosphoserine(IKK)HMM predict
859O-linkedHMM predict
870O-linkedHMM predict
870O-linkedHMM predict
870Phosphoserine(IKK)HMM predict
879O-linkedHMM predict
890O-linkedHMM predict
890O-linkedHMM predict
890Phosphoserine(IKK)HMM predict
899O-linkedHMM predict
910O-linkedHMM predict
910O-linkedHMM predict
910Phosphoserine(IKK)HMM predict
919O-linkedHMM predict
930O-linkedHMM predict
930O-linkedHMM predict
930Phosphoserine(IKK)HMM predict
950O-linkedHMM predict
957N-linkedHMM predict
960O-linkedHMM predict
962Phosphoserine(CK2)HMM predict
964Phosphoserine(IKK)HMM predict
966O-linkedHMM predict
966Phosphoserine(IKK)HMM predict
968O-linkedHMM predict
975N-linkedHMM predict
982O-linkedHMM predict
983Phosphothreonine(PKC)HMM predict
984O-linkedHMM predict
984Phosphothreonine(MAPK)HMM predict
987O-linkedHMM predict
990O-linkedHMM predict
990O-linkedHMM predict
990O-linkedHMM predict
993O-linkedHMM predict
996Phosphoserine(CK2)HMM predict
1001Phosphothreonine(MAPK)HMM predict
1001Phosphothreonine(CDK)HMM predict
1003O-linkedHMM predict
1012O-linkedHMM predict
1015O-linkedHMM predict
1028Phosphoserine(IKK)HMM predict
1029N-linkedHMM predict
1031PhosphoserineHMM predict
1033O-linkedHMM predict
1033Phosphoserine(MAPK)HMM predict
1033Phosphoserine(CDK)HMM predict
1055N-linkedHMM predict
1056Phosphoserine(CK2)HMM predict
1065Phosphotyrosine(Syk)HMM predict
1065SulfotyrosineHMM predict
1066Phosphotyrosine(Syk)HMM predict
1066PhosphotyrosineHMM predict
1066SulfotyrosineHMM predict
1133N-linkedHMM predict
1184S-palmitoylHMM predict
1203Phosphotyrosine(INSR)HMM predict
1203Phosphotyrosine(Syk)HMM predict
1218Phosphotyrosine(INSR)HMM predict
1223O-linkedHMM predict
1229Phosphotyrosine(Syk)HMM predict
1243Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001018016
  • Location:chr1 153424925-153429323
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 153429860 153430188 328 701
CTCF CD4SISSRdata 153429860 153430188 328 701
CTCF G2GSE9613 153429232 153430417 1185 501
PHF8 293TGSE20725 153429631 153431262 1631 1123
TFAP2C MCF7GSE21234 153429119 153430584 1465 528
hScc1 BcellGSE12603 153429675 153430417 742 723
p130 QuiescentGSE19898 153430228 153430465 237 1023
p130 shRbQuiescentGSE19898 153430132 153430596 464 1041
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 153424644 153425154 510 27
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 153427515 153427940 425 0
TFAP2C MCF7GSE21234 153425384 153426308 924 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1226 hsa-mir-1226 3 20514397
hsa-miR-1226 hsa-mir-1226 3 20514397
hsa-miR-1226* hsa-mir-1226 3 20514397
hsa-miR-1226* hsa-mir-1226 3 20514397
hsa-miR-125b hsa-mir-125b-1 11 20729973
hsa-miR-125b hsa-mir-125b-2 21 20729973
hsa-miR-125b hsa-mir-125b-1 11 20729973
hsa-miR-125b hsa-mir-125b-2 21 20729973
hsa-miR-145 hsa-mir-145 5 19996288
hsa-miR-145 hsa-mir-145 5 20407606
hsa-miR-145 hsa-mir-145 5 19996288
hsa-miR-145 hsa-mir-145 5 20407606
hsa-miR-145* hsa-mir-145 5 19996288
hsa-miR-145* hsa-mir-145 5 20407606
hsa-miR-145* hsa-mir-145 5 19996288
hsa-miR-145* hsa-mir-145 5 20407606
hsa-miR-424 hsa-mir-424 X 17889671
hsa-miR-424 hsa-mir-424 X 17889671
hsa-miR-424* hsa-mir-424 X 17889671
hsa-miR-424* hsa-mir-424 X 17889671
No data
Cis-Nats regulation Top

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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