AutismKB 2.0

Annotation Detail for PCSK1


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Basic Information Top
Gene Symbol:PCSK1 ( BMIQ12,NEC1,PC1,PC3,SPC3 )
Gene Full Name: proprotein convertase subtilisin/kexin type 1
Band: 5q15
Quick LinksEntrez ID:5122; OMIM: 162150; Uniprot ID:NEC1_HUMAN; ENSEMBL ID: ENSG00000175426; HGNC ID: 8743
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
173N-linked (GlcNAc...) (Potential).
401N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
173N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
401N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
17S-palmitoylHMM predict
20S-palmitoylHMM predict
55Phosphotyrosine(INSR)HMM predict
79Phosphoserine(PKA)HMM predict
103Phosphotyrosine(EGFR)HMM predict
103Phosphotyrosine(Syk)HMM predict
103Phosphotyrosine(SRC)HMM predict
108Phosphoserine(CK1)HMM predict
138Phosphothreonine(PKA)HMM predict
173N-linkedHMM predict
178SulfotyrosineHMM predict
348O-linkedHMM predict
349Phosphoserine(IKK)HMM predict
350O-linkedHMM predict
360Phosphotyrosine(INSR)HMM predict
367Phosphoserine(PKA)HMM predict
379O-linkedHMM predict
382O-linkedHMM predict
384O-linkedHMM predict
401N-linkedHMM predict
526O-linkedHMM predict
543Phosphothreonine(PKA)HMM predict
596Phosphoserine(ATM)HMM predict
645Phosphoserine(CDK)HMM predict
645Phosphoserine(CDC2)HMM predict
645Phosphoserine(IKK)HMM predict
647Phosphoserine(CK1)HMM predict
649Phosphoserine(CK1)HMM predict
676Phosphoserine(CK1)HMM predict
679Phosphoserine(CDC2)HMM predict
684PhosphoserineHMM predict
684Phosphoserine(CDC2)HMM predict
688PhosphoserineHMM predict
688Phosphoserine(CDC2)HMM predict
701Phosphotyrosine(Syk)HMM predict
719Phosphoserine(CK1)HMM predict
724Phosphotyrosine(Syk)HMM predict
737ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000439
  • Location:chr5 95751874-95794707
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 95794511 95795041 530 69
NRSF JurkatGSE13047 95795039 95796717 1678 1171
NRSF JurkatSISSRdata 95795519 95796063 544 1084
NRSF mAbJurkat 95791230 95799028 7798 422
NRSF mAbJurkat 95801613 95801949 336 7074
NRSF mAbJurkat 95804603 95805426 823 10307
NRSF mAbJurkat 95808483 95809560 1077 14314
NRSF-mono JurkatQuESTdata 95795454 95796362 908 1201
NRSF pAbJurkat 95793891 95796930 3039 703
NRSF-poly JurkatQuESTdata 95795408 95796136 728 1065
Oct4 hESGSE17917 95795682 95796247 565 1257
TFAP2C MCF7GSE21234 95795609 95796049 440 1122
hScc1 CdLSGSE12603 95801236 95801681 445 6751
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 95745511 95746389 878 5925
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 95792408 95794049 1641 0
NRSF JurkatGSE13047 95789043 95789878 835 0
NRSF JurkatSISSRdata 95789147 95789670 523 0
NRSF mAbJurkat 95784506 95785840 1334 0
NRSF mAbJurkat 95786535 95790877 4342 0
NRSF-mono JurkatQuESTdata 95789074 95789710 636 0
NRSF-mono JurkatQuESTdata 95793746 95794735 989 0
NRSF pAbJurkat 95792329 95793630 1301 0
NRSF-poly JurkatQuESTdata 95789091 95789745 654 0
Oct1 H2O2-HelaGSE14283 95765791 95765828 37 0
Oct1 H2O2-HelaGSE14283 95769880 95769906 26 0
Oct1 HelaGSE14283 95765793 95765842 49 0
PolII HeLaGSE12783 95768655 95770393 1738 0
Rb SenescentGSE19898 95793152 95793504 352 0
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


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