• Gene id: 4286

Gene Summary

• Gene Symbol: MITF   Gene   UCSC   Ensembl
• Aliases: CMM8, COMMAD, MI, WS2, WS2A, bHLHe32
• Gene name: melanocyte inducing transcription factor
• Alternate names: microphthalmia-associated transcription factor, class E basic helix-loop-helix protein 32, melanogenesis associated transcription factor, microphtalmia-associated transcription factor,
• Gene location: 3p13 (69739463: 69968336)     Exons: 17     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of
• OMIM: 156845

Protein Summary

• Protein general information: O75030  
  • Name: Microphthalmia associated transcription factor (Class E basic helix loop helix protein 32) (bHLHe32)
  • Length: 526  
  • Mass: 58795
  • Tissue specificity: Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types
• Sequence:

  MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERRE
  QQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANK
  HANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDD
  VIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
  SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELE
  NRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDL
  TDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHT
  C

• Structural information:
  • Protein Domains: (311..36-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR021802  IPR031867  IPR030532  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 4C7N
  • PDBsum: 4C7N
  • DIP: 59573
  • STRING: ENSP00000295600
• Other Databases: GeneCards:  MITF  Malacards:  MITF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:2000144	positive regulation of DNA-templated transcription, initiation	IDA	biological process
GO:2000144	positive regulation of DNA-templated transcription, initiation	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:2001141	regulation of RNA biosynthetic process	IDA	biological process
GO:0030318	melanocyte differentiation	IBA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070888	E-box binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0046849	bone remodeling	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	IEA	biological process
GO:0044336	canonical Wnt signaling pathway involved in negative regulation of apoptotic process	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	NAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	NAS	biological process
GO:0030318	melanocyte differentiation	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa04380	Osteoclast differentiation
hsa04916	Melanogenesis
hsa04137	Mitophagy - animal
hsa05218	Melanoma

Diseases

Associated diseases	References
Melanoma	KEGG:H00038
Waardenburg syndrome	KEGG:H00759
Ocular albinism	KEGG:H00169
Tietz syndrome	KEGG:H01187
Melanoma	KEGG:H00038
Waardenburg syndrome	KEGG:H00759
Ocular albinism	KEGG:H00169
Tietz syndrome	KEGG:H01187
Tietze's syndrome	PMID:10851256
Melanoma	PMID:15103749
Waardenburg's syndrome	PMID:8589691
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray