Annotation Detail for SLC19A1

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Basic Information Top

Gene Symbol:	SLC19A1 ( CHMD,FOLT,IFC1,REFC,RFC1 )
Gene Full Name:	solute carrier family 19 (folate transporter), member 1
Band:	21q22.3
Quick Links	Entrez ID:6573; OMIM: 600424; Uniprot ID:S19A1_HUMAN; ENSEMBL ID: ENSG00000173638; HGNC ID: 10937
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:11 results

Location(AA)	Modification
58	N-linked (GlcNAc...) (Potential).
485	Phosphoserine (By similarity).
583	Phosphoserine.

Location(AA)	Modification	Resource
5	Phosphoserine(CDC2)	HMM predict
58	N-linked	HMM predict
74	Phosphotyrosine(Jak)	HMM predict
187	Phosphotyrosine(INSR)	HMM predict
499	Phosphoserine(ATM)	HMM predict
503	Phosphoserine(ATM)	HMM predict
503	Phosphoserine(CDK)	HMM predict
503	Phosphoserine(CDC2)	HMM predict
524	Phosphotyrosine(Syk)	HMM predict
542	O-linked	HMM predict
547	O-linked	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_194255
Location:chr21 45759056-45786778
strand:-

Upstream the gene:12 results
Downstream the gene:0 results
Inside the gene:18 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	45786501	45787590	1089	267
CTCF	G2	GSE9613	45799111	45799459	348	12507
ETS1	Jurkat	GSE17954	45786554	45787092	538	45
TFAP2C	MCF7	GSE21234	45797312	45797744	432	10750
TFAP2C	MCF7	GSE21234	45800005	45800702	697	13575
hScc1	Bcell	GSE12603	45787524	45787999	475	983
hScc1	Bcell	GSE12603	45790047	45790763	716	3627
hScc1	Bcell	GSE12603	45796662	45797602	940	10354
hScc1	Bcell	GSE12603	45799111	45799459	348	12507
hScc1	Bcell	GSE12603	45800012	45801013	1001	13734
hScc1	CdLS	GSE12603	45799111	45799459	348	12507
hScc1	CdLS	GSE12603	45800106	45801013	907	13781

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	45771673	45772071	398	0
CTCF	G2	GSE9613	45776243	45776596	353	0
H3ac	HepG2	E	45784620	45785554	934	0
PHF8	HeLa	GSE20725	45785719	45787446	1727	0
TFAP2C	MCF7	GSE21234	45759843	45760361	518	0
TFAP2C	MCF7	GSE21234	45771216	45772130	914	0
TFAP2C	MCF7	GSE21234	45778341	45778660	319	0
USF1	HepG2	E	45769630	45770445	815	0
hScc1	Bcell	GSE12603	45759100	45759346	246	0
hScc1	Bcell	GSE12603	45760717	45761233	516	0
hScc1	Bcell	GSE12603	45768230	45768873	643	0
hScc1	Bcell	GSE12603	45769701	45770509	808	0
hScc1	Bcell	GSE12603	45775794	45776745	951	0
hScc1	Bcell	GSE12603	45777607	45778567	960	0
hScc1	Bcell	GSE12603	45778977	45779221	244	0
hScc1	Bcell	GSE12603	45781591	45782105	514	0
hScc1	Bcell	GSE12603	45786205	45787250	1045	0
hScc1	CdLS	GSE12603	45786205	45787158	953	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
17059	mRNA	COL18A1	chr21	45699851	45758061	160	mRNA	SLC19A1	chr21	45737913	45775883	Sense/Antisense (SA) pairs

Simple Query:

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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