Q08874

PR
Gene name
Mitf (Bw, Mi, Vit)
Protein name
Microphthalmia-associated transcription factor
Names
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:17342
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

473-526 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

6 structures for Q08874

Entry ID Method Resolution Chain Position Source
4ATH X-ray 195 A A/B 324-403 PDB
4ATI X-ray 260 A A/B 287-403 PDB
4ATK X-ray 295 A A/B 287-403 PDB
6FX5 X-ray 205 A A/B 324-403 PDB
6G1L X-ray 240 A A 287-403 PDB
AF-Q08874-F1 Predicted AlphaFoldDB

19 variants for Q08874

Variant ID(s) Position Change Description Diseaes Association Provenance
36 S>del microphthalmia-red-eyed white/mi-rw [UniProt] No
rs3396946843 57 I>M No EVA
rs3388837156 101 S>G No EVA
119 V>del microphthalmia-white spot/mi-ws [UniProt] No
139 V>del microphthalmia-black and white spot/mi-bws [UniProt] No
rs3397156240 232 S>H No EVA
rs3397116017 234 E>* No EVA
294 A>V microphthalmia-eyeless-white/mi-ew [UniProt] No
294 A>del microphthalmia-spotted/mi-sp [UniProt] No
319 I>N microphthalmia-white/mi-wh [UniProt] No
323 R>del microphthalmia/mi [UniProt] No
rs3388845948 327 I>K No EVA
329 D>N microphthalmia-vitiligo/mi-vi [UniProt] No
rs3388843574 337 L>V No EVA
rs3388848078 339 P>H No EVA
rs3397117093 347 R>L No EVA
370 R>del microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di [UniProt] No
rs45997580 459 N>S No EVA
rs3388844214 500 L>M No EVA

1 associated diseases with Q08874

Without disease ID

3 regional properties for Q08874

Type Name Position InterPro Accession
domain Myc-type, basic helix-loop-helix (bHLH) domain 311 - 370 IPR011598
domain MiT/TFE transcription factors, C-terminal 397 - 521 IPR021802
domain MiT/TFE transcription factors, N-terminal 56 - 194 IPR031867

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Lysosome membrane
  • When nutrients are present, recruited to the lysosomal membrane via association with GDP-bound RagC/RRAGC (or RagD/RRAGD): it is then phosphorylated by MTOR
  • Phosphorylation by MTOR promotes ubiquitination and degradation
  • Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus
  • Phosphorylation by MARK3/cTAK1 promotes association with 14-3-3/YWHA adapters and retention in the cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

9 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
E-box binding Binding to an E-box, a DNA motif with the consensus sequence CANNTG that is found in the promoters of a wide array of genes expressed in neurons, muscle and other tissues.
protein dimerization activity The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

24 GO annotations of biological process

Name Definition
bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.
camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
DNA-templated transcription The synthesis of an RNA transcript from a DNA template.
melanocyte apoptotic process Any apoptotic process in a melanocyte, the main structural component of the epidermis.
melanocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a melanocyte.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of DNA-templated transcription initiation Any process that activates or increases the frequency, rate or extent of DNA-templated transcription initiation.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation.
regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q15853 USF2 Upstream stimulatory factor 2 Homo sapiens (Human) PR
P19484 TFEB Transcription factor EB Homo sapiens (Human) PR
Q9R210 Tfeb Transcription factor EB Mus musculus (Mouse) PR
Q8S3F1 NAI1 Transcription factor NAI1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MQSESGIVAD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH SGASKPPLSS STMTSRILLR
70 80 90 100 110 120
QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV SVPTTLPSAT QVPMEVLKVQ
130 140 150 160 170 180
THLENPTKYH IQQAQRHQVK QYLSTTLANK HASQVLSSPC PNQPGDHAMP PVPGSSAPNS
190 200 210 220 230 240
PMAMLTLNSN CEKEAFYKFE EQSRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE
250 260 270 280 290 300
ILGLMDPALQ MANTLPVSGN LIDLYSNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE
310 320 330 340 350 360
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY
370 380 390 400 410 420
IRKLQREQQR AKDLENRQKK LEHANRHLLL RVQELEMQAR AHGLSLIPST GLCSPDLVNR
430 440 450 460 470 480
IIKQEPVLEN CSQELVQHQA DLTCTTTLDL TDGTITFTNN LGTMPESSPA YSIPRKMGSN
490 500 510 520
LEDILMDDAL SPVGVTDPLL SSVSPGASKT SSRRSSMSAE ETEHAC