AutismKB 2.0

Annotation Detail for SLC40A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC40A1 ( FPN1,HFE4,IREG1,MST079,MTP1,SLC11A3 )
Gene Full Name: solute carrier family 40 (iron-regulated transporter), member 1
Band: 2q32.2
Quick LinksEntrez ID:30061; OMIM: 604653; Uniprot ID:S40A1_HUMAN; ENSEMBL ID: ENSG00000138449; HGNC ID: 10909
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
174N-linked (GlcNAc...) (Potential).
419Phosphothreonine.
421Phosphothreonine.
434N-linked (GlcNAc...) (Potential).
567N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
434N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
567N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
100N-linkedHMM predict
174N-linkedHMM predict
431Phosphotyrosine(INSR)HMM predict
434N-linkedHMM predict
437N-linkedHMM predict
440N-linkedHMM predict
449Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014585
  • Location:chr2 190133562-190153857
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 190166207 190166408 201 12450
Gata1 K562GSE18868 190154625 190155320 695 1115
Gata2 K562GSE18868 190154463 190155292 829 1020
TAF k562GSE8489 190155311 190155859 548 1728
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 190114112 190114969 857 19022
FOXA1 MCF7GSE15244 190114443 190115787 1344 18448
RARA MCF7GSE15244 190113983 190116010 2027 18566
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 190152741 190153144 403 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