AutismKB 2.0

Annotation Detail for SLC4A1


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Basic Information Top
Gene Symbol:SLC4A1 ( AE1,BND3,CD233,DI,EMPB3,EPB3,FR,MGC116750,MGC116753,MGC126619,MGC126623,RTA1A,SW,WD,WD1,WR )
Gene Full Name: solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
Band: 17q21.31
Quick LinksEntrez ID:6521; OMIM: 109270; Uniprot ID:B3AT_HUMAN; ENSEMBL ID: ENSG00000004939; HGNC ID: 11027
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
8Phosphotyrosine.
21Phosphotyrosine.
46Phosphotyrosine.
350Phosphoserine (By similarity).
359Phosphotyrosine.
642N-linked (GlcNAc...) (Probable).
904Phosphotyrosine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
8Phosphotyrosine.Swiss-Prot 53.0
8Phosphotyrosine (Lyn;Syk)Phospho.ELM 6.0
21Phosphotyrosine.Swiss-Prot 53.0
21Phosphotyrosine (Lyn;Syk)Phospho.ELM 6.0
29PhosphoserinePhospho.ELM 6.0
42Phosphothreonine (CK1 alpha)Phospho.ELM 6.0
46PhosphotyrosinePhospho.ELM 6.0
46Phosphotyrosine.Swiss-Prot 53.0
50PhosphoserinePhospho.ELM 6.0
303Phosphoserine (CK1 alpha)Phospho.ELM 6.0
350Phosphoserine (By similarity).Swiss-Prot 53.0
359Phosphotyrosine.Swiss-Prot 53.0
359Phosphotyrosine (Lyn;Syk)Phospho.ELM 6.0
642N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
843S-palmitoyl cysteine.Swiss-Prot 53.0
904Phosphotyrosine (Lyn;Syk)Phospho.ELM 6.0
904Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
8SulfotyrosineHMM predict
8PhosphotyrosineHMM predict
8Phosphotyrosine(Syk)HMM predict
21SulfotyrosineHMM predict
21PhosphotyrosineHMM predict
21Phosphotyrosine(Syk)HMM predict
21Phosphotyrosine(SRC)HMM predict
21Phosphotyrosine(INSR)HMM predict
44O-linkedHMM predict
49O-linkedHMM predict
185Phosphoserine(ATM)HMM predict
287Phosphothreonine(PKC)HMM predict
334Phosphoserine(MAPK)HMM predict
350Phosphoserine(CDC2)HMM predict
350Phosphoserine(CDK)HMM predict
359Phosphotyrosine(Syk)HMM predict
486Phosphotyrosine(INSR)HMM predict
593N-linkedHMM predict
642N-linkedHMM predict
746Phosphothreonine(MAPK)HMM predict
824Phosphotyrosine(Jak)HMM predict
853Phosphothreonine(MAPK)HMM predict
856Phosphoserine(IKK)HMM predict
904Phosphotyrosine(Syk)HMM predict
904Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000342
  • Location:chr17 39682565-39700992
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 39712348 39713249 901 11806
CTCF G2GSE9613 39702164 39703143 979 1661
P300 T30-glioblastomaGSE21026 39712325 39713316 991 11828
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 39668846 39670252 1406 13017
NFkBII GM12892GSE19485 39668915 39669988 1073 13114
NFkBII GM12892GSE19485 39678142 39680210 2068 3390
USF1 HepG2E 39678359 39678549 190 4112
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39683265 39683528 263 0
CTCF G2GSE9613 39690467 39690825 358 0
CTCF G2GSE9613 39691908 39692196 288 0
FoxA1 MCF7MACSdata 39699643 39699880 237 0
Gata1 K562GSE18868 39699333 39700100 767 0
Gata2 K562GSE18868 39699013 39700204 1191 0
hScc1 BcellGSE12603 39683002 39683338 336 0
hScc1 BcellGSE12603 39691908 39692084 176 0
hScc1 BcellGSE12603 39697994 39698242 248 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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