Annotation Detail for MITF

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Basic Information Top

Gene Symbol:	MITF ( MI,WS2A,bHLHe32 )
Gene Full Name:	microphthalmia-associated transcription factor
Band:	3p13
Quick Links	Entrez ID:4286; OMIM: 156845; Uniprot ID:MITF_HUMAN; ENSEMBL ID: ENSG00000187098; HGNC ID: 7105
Relate to Another Database:	SFARIGene; denovo-db

General

Expression

Regulation

Pathways, Diseases and Drugs

PTM

TF binding site

miRNA targets

Cis-NATs

Post Translation Modification

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PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:32 results

Location(AA)	Modification
54	Phosphothreonine.
405	Phosphoserine; by GSK3.
414	Phosphoserine.

Location(AA)	Modifications	Resource
405	Phosphoserine (by GSK3).	Swiss-Prot 53.0

Location(AA)	Modification	Resource
24	Phosphotyrosine(Syk)	HMM predict
36	Phosphoserine(CK2)	HMM predict
37	Phosphoserine(CK1)	HMM predict
37	O-linked	HMM predict
44	O-linked	HMM predict
49	O-linked	HMM predict
49	O-linked	HMM predict
50	O-linked	HMM predict
54	Phosphothreonine(PKC)	HMM predict
99	N-linked	HMM predict
125	N-linked	HMM predict
175	Phosphoserine(CDC2)	HMM predict
175	Phosphoserine(IKK)	HMM predict
176	O-linked	HMM predict
180	Phosphoserine(IKK)	HMM predict
180	Phosphoserine	HMM predict
232	Phosphoserine(CK1)	HMM predict
405	Phosphoserine	HMM predict
414	Phosphoserine(MAPK)	HMM predict
447	O-linked	HMM predict
471	Phosphotyrosine(SRC)	HMM predict
491	Phosphoserine(MAPK)	HMM predict
501	O-linked	HMM predict
504	Phosphoserine(MAPK)	HMM predict
504	O-linked	HMM predict
510	Phosphothreonine(PKC)	HMM predict
512	O-linked	HMM predict
516	Phosphoserine(PKB)	HMM predict
516	Phosphoserine(PKA)	HMM predict
516	Phosphoserine(PKG)	HMM predict
516	Phosphoserine(CAMK2)	HMM predict
518	Phosphoserine(IKK)	HMM predict

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

RefSeq ID: NM_000248
Location:chr3 70068442-70100175
strand:+

Upstream the gene:0 results
Downstream the gene:6 results
Inside the gene:7 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	E2-MCF7	GSE14664	70104299	70104354	55	4151
ER	E2-MCF7	GSE14664	70108441	70108478	37	8284
ER	Fulvestrant-MCF7	GSE14664	70104300	70104345	45	4147
Nanog	hES	GSE18292	70115109	70115659	550	15209
Oct1	Hela	GSE14283	70108441	70108478	37	8284
Sox2	hES	GSE18292	70115091	70115577	486	15159

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	G2	GSE9613	70080099	70080362	263
CTCF	G2	GSE9613	70096892	70097028	136
Oct1	Hela	GSE14283	70071600	70071633	33
STAT1	IFN	SISSRdata	70079995	70080665	670
Sox2	hES	GSE18292	70080241	70080446	205
hScc1	CdLS	GSE12603	70079960	70080475	515
hScc1	G2	GSE9613	70079960	70080698	738

Validated miRNA targets

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miR Walk:84 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-137	hsa-mir-137	1	21051724
hsa-miR-137	hsa-mir-137	1	18316599
hsa-miR-137	hsa-mir-137	1	21051724
hsa-miR-137	hsa-mir-137	1	18316599
hsa-miR-148a	hsa-mir-148a	7	20644734
hsa-miR-148a	hsa-mir-148a	7	20644734
hsa-miR-148a*	hsa-mir-148a	7	20644734
hsa-miR-148a*	hsa-mir-148a	7	20644734
hsa-miR-155	hsa-mir-155	21	20720163
hsa-miR-155	hsa-mir-155	21	20720163
hsa-miR-155*	hsa-mir-155	21	20720163
hsa-miR-155*	hsa-mir-155	21	20720163
hsa-miR-17	hsa-mir-17	13	20550935
hsa-miR-17	hsa-mir-17	13	20550935
hsa-miR-17*	hsa-mir-17	13	20550935
hsa-miR-17*	hsa-mir-17	13	20550935
hsa-miR-182	hsa-mir-182	7	19188590
hsa-miR-182	hsa-mir-182	7	19167416
hsa-miR-182	hsa-mir-182	7	17597072
hsa-miR-182	hsa-mir-182	7	19188590
hsa-miR-182	hsa-mir-182	7	19167416
hsa-miR-182	hsa-mir-182	7	17597072
hsa-miR-182*	hsa-mir-182	7	19188590
hsa-miR-182*	hsa-mir-182	7	19167416
hsa-miR-182*	hsa-mir-182	7	17597072
hsa-miR-182*	hsa-mir-182	7	19188590
hsa-miR-182*	hsa-mir-182	7	19167416
hsa-miR-182*	hsa-mir-182	7	17597072
hsa-miR-183	hsa-mir-183	7	17597072
hsa-miR-183	hsa-mir-183	7	17597072
hsa-miR-183*	hsa-mir-183	7	17597072
hsa-miR-183*	hsa-mir-183	7	17597072
hsa-miR-200a	hsa-mir-200a	1	19167416
hsa-miR-200a	hsa-mir-200a	1	19167416
hsa-miR-200a*	hsa-mir-200a	1	19167416
hsa-miR-200a*	hsa-mir-200a	1	19167416
hsa-miR-200b	hsa-mir-200b	1	19167416
hsa-miR-200b	hsa-mir-200b	1	19167416
hsa-miR-200b*	hsa-mir-200b	1	19167416
hsa-miR-200b*	hsa-mir-200b	1	19167416
hsa-miR-200c	hsa-mir-200c	12	19167416
hsa-miR-200c	hsa-mir-200c	12	19167416
hsa-miR-200c*	hsa-mir-200c	12	19167416
hsa-miR-200c*	hsa-mir-200c	12	19167416
hsa-miR-21	hsa-mir-21	17	19167416
hsa-miR-21	hsa-mir-21	17	19167416
hsa-miR-21*	hsa-mir-21	17	19167416
hsa-miR-21*	hsa-mir-21	17	19167416
hsa-miR-211	hsa-mir-211	15	21072171
hsa-miR-211	hsa-mir-211	15	21072171
hsa-miR-25	hsa-mir-25	7	20036482
hsa-miR-25	hsa-mir-25	7	20036482
hsa-miR-25*	hsa-mir-25	7	20036482
hsa-miR-25*	hsa-mir-25	7	20036482
hsa-miR-340	hsa-mir-340	5	20439467
hsa-miR-340	hsa-mir-340	5	20439467
hsa-miR-340*	hsa-mir-340	5	20439467
hsa-miR-340*	hsa-mir-340	5	20439467
hsa-miR-34a	hsa-mir-34a	1	21051724
hsa-miR-34a	hsa-mir-34a	1	19167416
hsa-miR-34a	hsa-mir-34a	1	21051724
hsa-miR-34a	hsa-mir-34a	1	19167416
hsa-miR-34a*	hsa-mir-34a	1	21051724
hsa-miR-34a*	hsa-mir-34a	1	19167416
hsa-miR-34a*	hsa-mir-34a	1	21051724
hsa-miR-34a*	hsa-mir-34a	1	19167416
hsa-miR-377	hsa-mir-377	14	20036482
hsa-miR-377	hsa-mir-377	14	20036482
hsa-miR-377*	hsa-mir-377	14	20036482
hsa-miR-377*	hsa-mir-377	14	20036482
hsa-miR-381	hsa-mir-381	14	21273305
hsa-miR-381	hsa-mir-381	14	21273305
hsa-miR-429	hsa-mir-429	1	19167416
hsa-miR-429	hsa-mir-429	1	19167416
hsa-miR-539	hsa-mir-539	14	21273305
hsa-miR-539	hsa-mir-539	14	21273305
hsa-miR-96	hsa-mir-96	7	19167416
hsa-miR-96	hsa-mir-96	7	17597072
hsa-miR-96	hsa-mir-96	7	19167416
hsa-miR-96	hsa-mir-96	7	17597072
hsa-miR-96*	hsa-mir-96	7	19167416
hsa-miR-96*	hsa-mir-96	7	17597072
hsa-miR-96*	hsa-mir-96	7	19167416
hsa-miR-96*	hsa-mir-96	7	17597072

Cis-Nats regulation

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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

AutismKB 2.0

Annotation Detail for MITF

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics