AutismKB 2.0

Annotation Detail for SMPD1


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Basic Information Top
Gene Symbol:SMPD1 ( ASM,ASMASE,NPD )
Gene Full Name: sphingomyelin phosphodiesterase 1, acid lysosomal
Band: 11p15.4
Quick LinksEntrez ID:6609; OMIM: 607608; Uniprot ID:ASM_HUMAN; ENSEMBL ID: ENSG00000166311; HGNC ID: 11120
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
86N-linked (GlcNAc...).
175N-linked (GlcNAc...).
335N-linked (GlcNAc...).
395N-linked (GlcNAc...).
520N-linked (GlcNAc...).
Location(AA) Modifications Resource
86N-linked (GlcNAc...).Swiss-Prot 53.0
175N-linked (GlcNAc...).Swiss-Prot 53.0
335N-linked (GlcNAc...).Swiss-Prot 53.0
395N-linked (GlcNAc...).Swiss-Prot 53.0
520N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphoserine(IKK)HMM predict
15Phosphoserine(CDK)HMM predict
63O-linkedHMM predict
86N-linkedHMM predict
152Phosphoserine(CDC2)HMM predict
175N-linkedHMM predict
190Phosphoserine(IKK)HMM predict
226S-palmitoylHMM predict
227S-palmitoylHMM predict
237O-linkedHMM predict
238MethylarginineHMM predict
244C-linkedHMM predict
335N-linkedHMM predict
360Phosphothreonine(PKC)HMM predict
395N-linkedHMM predict
467SulfotyrosineHMM predict
503N-linkedHMM predict
520N-linkedHMM predict
525N-linkedHMM predict
581O-linkedHMM predict
603Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000543
  • Location:chr11 6368230-6372800
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 6357038 6357357 319 11033
CTCF CD4SISSRdata 6357038 6357357 319 11033
CTCF JurkatGSE12889 6357111 6357374 263 10988
ER E2-MCF7GSE14664 6355346 6355394 48 12861
ER Fulvestrant-MCF7GSE14664 6353239 6353378 139 14922
NFkBII GM10847GSE19485 6367439 6368860 1421 81
NFkBII GM12892GSE19485 6367311 6368988 1677 81
Nanog hESGSE18292 6362782 6363166 384 5257
Oct1 H2O2-HelaGSE14283 6355501 6355529 28 12716
Oct1 H2O2-HelaGSE14283 6359009 6359046 37 9203
Oct1 HelaGSE14283 6355352 6355387 35 12861
Oct1 HelaGSE14283 6355503 6355538 35 12710
Oct1 HelaGSE14283 6359009 6359038 29 9207
Oct4 ESGSE20650 6362955 6363306 351 5100
Sox2 hESGSE18292 6362790 6363183 393 5244
hScc1 BcellGSE12603 6356926 6357331 405 11102
hScc1 BcellGSE12603 6367933 6368334 401 97
hScc1 CdLSGSE12603 6356658 6357331 673 11236
hScc1 G2GSE9613 6356926 6357331 405 11102
hScc1 G2GSE9613 6357673 6357985 312 10402
hScc1 G2GSE9613 6367750 6368164 414 274
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 6372476 6372922 446 0
hScc1 BcellGSE12603 6369044 6369527 483 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-145 hsa-mir-145 5 20382746
hsa-miR-145* hsa-mir-145 5 20382746
hsa-miR-188-3p hsa-mir-188 X 19541842
hsa-miR-188-5p hsa-mir-188 X 19541842
hsa-miR-25 hsa-mir-25 7 19541842
hsa-miR-25* hsa-mir-25 7 19541842
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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