Regulation of MITF-M-dependent genes involved in pigmentation

Summary
Organism
Homo sapiens (human)
Reactome
R-HSA-9824585
PubChem
R-HSA-9824585
Description
  • Genes involved in pigmentation and melanocyte structure and organization were among the first identified targets of MITF. Expression of enzymes TYR, DCT and TYRP1, which work sequentially to eventually convert tyrosine into eumelanin and pheomelanin, is regulated in part by the binding of MITF to M-boxes in the promoters (Bentley et al, 1994; Bertolotto et al, 1998; Yavuzer et al, 1995; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019). MITF additionally regulates the expression of structural components of the melanosome such as MLANA, SLC24A5, SILV and GPR143, although direct binding and regulation has not been demonstrated in all cases (Du et al, 2003; Cortese et al, 2005; Schiaffino and Tacchetti, 2005; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019). Genes encoding RAB27A and MYO5A, which regulate the localization and trafficking of melanosomes, are also targets of MITF (Chiaverini et al, 2008; Alves et al, 2017; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019).
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
Displaying entries 1 - 10 of 28 in total
UniProt ID Protein Name Gene Symbol Pathway Viewer
O14497 AT-rich interactive domain-containing protein 1A
  • ARID1A
  • BAF250
  • BAF250A
  • C1orf4
  • OSA1
  • SMARCF1
view
O75177 Calcium-responsive transactivator
  • CREST
  • KIAA0693
  • SS18L1
view
O96019 Actin-like protein 6A
  • ACTL6A
  • BAF53
  • BAF53A
  • INO80K
view
P05549 Transcription factor AP-2-alpha
  • AP2TF
  • TFAP2
  • TFAP2A
view
P14679 Tyrosinase
  • TYR
view
P17643 5,6-dihydroxyindole-2-carboxylic acid oxidase
  • CAS2
  • TYRP
  • TYRP1
  • TYRRP
view
P31751 RAC-beta serine/threonine-protein kinase
  • AKT2
view
P35222 Catenin beta-1
  • CTNNB
  • CTNNB1
  • OK/SW-cl.35
  • PRO2286
view
P40126 L-dopachrome tautomerase
  • DCT
  • TYRP2
view
P40967 Melanocyte protein PMEL
  • D12S53E
  • PMEL
  • PMEL17
  • SILV
view

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026