Microphthalmia-associated transcription factor

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Microphthalmia-associated transcription factor
Identifiers
Symbol(s)	MITF; WS2A
External IDs	OMIM: 156845 MGI: 104554 HomoloGene: 4892
Gene ontology Molecular Function: • chromatin binding • RNA polymerase II transcription factor activity, enhancer binding • transcription activator activity Cellular Component: • nucleus Biological Process: • multicellular organismal development • sensory perception of sound • Wnt receptor signaling pathway • melanocyte differentiation • regulation of cell proliferation • regulation of apoptosis • cell fate commitment • regulation of osteoclast differentiation • positive regulation of transcription from RNA polymerase II promoter
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	4286	17342
Ensembl	ENSG00000187098	ENSMUSG00000035158
Uniprot	O75030	Q3U2D2
Refseq	NM_000248 (mRNA) NP_000239 (protein)	NM_008601 (mRNA) NP_032627 (protein)
Location	Chr 3: 69.87 - 70.1 Mb	Chr 6: 97.77 - 97.98 Mb
Pubmed search	[1]	[2]

Microphthalmia-associated transcription factor is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte^[1] and osteoclast development.^[2]

Contents 1 Clinical significance 2 See also 3 References 4 External links

[edit] Clinical significance

It can be associated with Tietz syndrome^[3] and Waardenburg syndrome type IIa.^[4]

[edit] See also

• Microphthalmia

[edit] References

1. ^ Levy C, Khaled M, Fisher DE (2006). "MITF: master regulator of melanocyte development and melanoma oncogene". Trends Mol Med 12 (9): 406–14. doi:10.1016/j.molmed.2006.07.008. PMID 16899407. 
2. ^ Hershey CL, Fisher DE (2004). "Mitf and Tfe3: members of a b-HLH-ZIP transcription factor family essential for osteoclast development and function". Bone 34 (4): 689–96. doi:10.1016/j.bone.2003.08.014. PMID 15050900. 
3. ^ Smith SD, Kelley PM, Kenyon JB, Hoover D (2000). "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF". J. Med. Genet. 37 (6): 446–8. doi:10.1136/jmg.37.6.446. PMID 10851256. 
4. ^ Tachibana M, Kobayashi Y, Matsushima Y (2003). "Mouse models for four types of Waardenburg syndrome". Pigment Cell Res. 16 (5): 448–54. doi:10.1034/j.1600-0749.2003.00066.x. PMID 12950719. 

[edit] External links

• MeSH Microphthalmia-associated+transcription+factor

This article on a gene on chromosome 3 is a stub. You can help Wikipedia by expanding it.

v • d • e Transcription factors and intracellular receptors (1) Basic domains (1.1) Basic leucine zipper (bZIP) Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1 (1.2) Basic helix-loop-helix (bHLH) ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1 (1.3) bHLH-ZIP MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2) (1.6) Basic helix-span-helix (bHSH) AP-2 (2) Zinc finger DNA-binding domains (2.1) Nuclear receptor (Cys4) subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP) (2.2) Other Cys4 GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3) (2.3) Cys2His2 ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33) (2.4) Cys6 HIVEP1 (2.5) Alternating composition AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B (3) Helix-turn-helix domains (3.1) Homeo domain ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1 (3.2) Paired box PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) (3.3) Fork head / winged helix E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3) (3.4) Heat Shock Factors HSF (1, 2, 4) (3.5) Tryptophan clusters ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2 (3.6) TEA domain transcriptional enhancer factor 1, 2 (4) β-Scaffold factors with minor groove contacts (4.1) Rel homology region NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5) (4.2) STAT STAT (1, 2, 3, 4, 5, 6) (4.3) p53 p53 (4.4) MADS box Mef2 (A, B, C, D) • SRF (4.7) High mobility group HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1 (4.10) Cold-shock domain CSDA, YBX1 (4.11) Runt CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1) (0) Other transcription factors (0.2) HMGI(Y) HMGA (1, 2) • HBP1 (0.3) Pocket domain Rb • RBL1 • RBL2 (0.5) AP-2/EREBP-related factors Apetala 2 • EREBP • B3 (0.6) Miscellaneous ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD

Categories: Genes on chromosome 3 | Human proteins | Chromosome 3 gene stubs | Transcription factors | Gene expression

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