AutismKB 2.0

Annotation Detail for PITPNM1


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Basic Information Top
Gene Symbol:PITPNM1 ( DRES9,FLJ44997,NIR2,PITPNM,RDGB,RDGB1,RDGBA,RDGBA1,Rd9 )
Gene Full Name: phosphatidylinositol transfer protein, membrane-associated 1
Band: 11q13.2
Quick LinksEntrez ID:9600; OMIM: 608794; Uniprot ID:PITM1_HUMAN; ENSEMBL ID: ENSG00000110697; HGNC ID: 9003
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
59Phosphothreonine (Probable).
287Phosphothreonine; by CDK1.
300Phosphoserine (By similarity).
382Phosphoserine; by CDK1.
593Phosphoserine.
600Phosphoserine.
621Phosphoserine.
896Phosphoserine.
Location(AA) Modifications Resource
59Phosphothreonine (Probable).Swiss-Prot 53.0
287Phosphothreonine (by CDC2).Swiss-Prot 53.0
287Phosphothreonine (CDK1)Phospho.ELM 6.0
300Phosphoserine (By similarity).Swiss-Prot 53.0
382Phosphoserine (by CDC2).Swiss-Prot 53.0
382Phosphoserine (CDK1)Phospho.ELM 6.0
389PhosphothreoninePhospho.ELM 6.0
593Phosphoserine.Swiss-Prot 53.0
600Phosphoserine.Swiss-Prot 53.0
621Phosphoserine.Swiss-Prot 53.0
621PhosphoserinePhospho.ELM 6.0
638PhosphoserinePhospho.ELM 6.0
794Phosphothreonine (MAPK1)Phospho.ELM 6.0
896Phosphoserine.Swiss-Prot 53.0
896PhosphoserinePhospho.ELM 6.0
1223Phosphothreonine (MAPK1)Phospho.ELM 6.0
Location(AA) Modification Resource
17Phosphotyrosine(INSR)HMM predict
33Phosphoserine(CK1)HMM predict
33Phosphoserine(PKG)HMM predict
34Phosphoserine(CK1)HMM predict
100Phosphothreonine(PKA)HMM predict
266Phosphoserine(IKK)HMM predict
266O-linkedHMM predict
276Phosphothreonine(PKC)HMM predict
283Phosphoserine(IKK)HMM predict
287O-linkedHMM predict
287Phosphothreonine(CDC2)HMM predict
300Phosphoserine(ATM)HMM predict
312Phosphoserine(CDC2)HMM predict
315Phosphoserine(CK1)HMM predict
319Phosphoserine(ATM)HMM predict
344N-linkedHMM predict
345Phosphoserine(CK1)HMM predict
382Phosphoserine(CDK)HMM predict
389O-linkedHMM predict
495N-linkedHMM predict
505Phosphoserine(CK1)HMM predict
509Phosphoserine(ATM)HMM predict
549Phosphoserine(CDC2)HMM predict
593Phosphoserine(CAMK2)HMM predict
593Phosphoserine(PKB)HMM predict
593Phosphoserine(PKG)HMM predict
600Phosphoserine(MAPK)HMM predict
621Phosphoserine(CDC2)HMM predict
625O-linkedHMM predict
638Phosphoserine(MAPK)HMM predict
638Phosphoserine(CDK)HMM predict
638Phosphoserine(ATM)HMM predict
644Phosphoserine(ATM)HMM predict
664Phosphoserine(PKB)HMM predict
674O-linkedHMM predict
698Phosphoserine(CDC2)HMM predict
794Phosphothreonine(MAPK)HMM predict
797O-linkedHMM predict
895Phosphotyrosine(SRC)HMM predict
909Phosphothreonine(PKC)HMM predict
909Phosphothreonine(PKA)HMM predict
915N-linkedHMM predict
919N-linkedHMM predict
957Phosphotyrosine(Jak)HMM predict
964Phosphoserine(ATM)HMM predict
976N-linkedHMM predict
1138Phosphoserine(ATM)HMM predict
1138Phosphoserine(CDC2)HMM predict
1140Phosphoserine(ATM)HMM predict
1176Phosphoserine(IKK)HMM predict
1176O-linkedHMM predict
1179O-linkedHMM predict
1214Phosphoserine(ATM)HMM predict
1223Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004910
  • Location:chr11 67015815-67028415
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 67028876 67029459 583 752
hScc1 CdLSGSE12603 67028246 67029401 1155 408
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 67019530 67019753 223 0
NRSF pAbJurkat 67021008 67021521 513 0
NRSF pAbJurkat 67024201 67024595 394 0
NRSF pAbJurkat 67027303 67028210 907 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-96 hsa-mir-96 7 19363478
hsa-miR-96* hsa-mir-96 7 19363478
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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