AutismKB 2.0

Annotation Detail for MBTPS1


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Basic Information Top
Gene Symbol:MBTPS1 ( KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1 )
Gene Full Name: membrane-bound transcription factor peptidase, site 1
Band: 16q23.3-q24.1
Quick LinksEntrez ID:8720; OMIM: 603355; Uniprot ID:MBTP1_HUMAN; ENSEMBL ID: ENSG00000140943; HGNC ID: 15456
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
236N-linked (GlcNAc...) (Potential).
305N-linked (GlcNAc...) (Potential).
515N-linked (GlcNAc...) (Potential).
616Phosphothreonine.
728N-linked (GlcNAc...) (Potential).
939N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
236N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
305N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
515N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
728N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
939N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
16S-palmitoylHMM predict
92N-linkedHMM predict
127Phosphothreonine(MAPK)HMM predict
127Phosphothreonine(CDK)HMM predict
127Phosphothreonine(CDC2)HMM predict
148N-linkedHMM predict
166Phosphoserine(PKG)HMM predict
236N-linkedHMM predict
239N-linkedHMM predict
343Phosphotyrosine(INSR)HMM predict
417O-linkedHMM predict
478Phosphotyrosine(Jak)HMM predict
483O-linkedHMM predict
485Phosphoserine(ATM)HMM predict
496Phosphotyrosine(SRC)HMM predict
515N-linkedHMM predict
520N-linkedHMM predict
595Phosphoserine(CK1)HMM predict
616Phosphothreonine(MAPK)HMM predict
616Phosphothreonine(CDK)HMM predict
702Phosphotyrosine(Syk)HMM predict
702Phosphotyrosine(SRC)HMM predict
702Phosphotyrosine(Jak)HMM predict
702Phosphotyrosine(INSR)HMM predict
875Phosphothreonine(MAPK)HMM predict
882Phosphoserine(CK1)HMM predict
890Phosphoserine(IKK)HMM predict
890O-linkedHMM predict
896Phosphothreonine(CDC2)HMM predict
896Phosphothreonine(MAPK)HMM predict
896Phosphothreonine(CDK)HMM predict
939N-linkedHMM predict
945N-linkedHMM predict
976Phosphoserine(MAPK)HMM predict
976Phosphoserine(CDC2)HMM predict
980Phosphoserine(ATM)HMM predict
1026Phosphoserine(PKA)HMM predict
1044ValineHMM predict
1050ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
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