AutismKB 2.0

Annotation Detail for KDELC1


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Basic Information Top
Gene Symbol:KDELC1 ( EP58,KDEL1,MGC5302 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) containing 1
Band: 13q33.1
Quick LinksEntrez ID:79070; OMIM: 611613; Uniprot ID:KDEL1_HUMAN; ENSEMBL ID: ENSG00000134901; HGNC ID: 19350
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
302N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
502Prevents secretion from ER (Potential).
Location(AA) Modifications Resource
302N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
28Phosphoserine(CDK)HMM predict
28Phosphoserine(CDC2)HMM predict
65Phosphoserine(CDK)HMM predict
65Phosphoserine(CDC2)HMM predict
76Phosphoserine(PKG)HMM predict
200Phosphotyrosine(Jak)HMM predict
262O-linkedHMM predict
302N-linkedHMM predict
312Phosphoserine(PKG)HMM predict
347Phosphotyrosine(SRC)HMM predict
347Phosphotyrosine(INSR)HMM predict
394Phosphotyrosine(EGFR)HMM predict
395Phosphotyrosine(Syk)HMM predict
395SulfotyrosineHMM predict
399Phosphotyrosine(Syk)HMM predict
463Phosphotyrosine(Syk)HMM predict
484Phosphothreonine(CK2)HMM predict
493S-palmitoylHMM predict
498Phosphothreonine(CK2)HMM predict
498Phosphothreonine(PKC)HMM predict
499LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024089
  • Location:chr13 102234632-102249357
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 102249261 102249494 233 20
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Sox2 hESGSE18292 102244120 102244354 234 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