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Q08874

- MITF_MOUSE

UniProt

Q08874 - MITF_MOUSE

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Protein

Microphthalmia-associated transcription factor

Gene
Mitf, Bw, Mi, Vit
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.

GO - Molecular functioni

  1. chromatin binding Source: MGI
  2. DNA binding Source: MGI
  3. RNA polymerase II core promoter sequence-specific DNA binding Source: MGI
  4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: MGI
  5. sequence-specific DNA binding Source: MGI
  6. sequence-specific DNA binding transcription factor activity Source: MGI

GO - Biological processi

  1. bone remodeling Source: MGI
  2. camera-type eye development Source: MGI
  3. canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: MGI
  4. cell differentiation Source: MGI
  5. cell fate commitment Source: MGI
  6. melanocyte differentiation Source: MGI
  7. negative regulation of apoptotic process Source: MGI
  8. osteoclast differentiation Source: MGI
  9. pigmentation Source: MGI
  10. positive regulation of transcription, DNA-templated Source: MGI
  11. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  12. regulation of cell proliferation Source: MGI
  13. regulation of gene expression Source: MGI
  14. regulation of osteoclast differentiation Source: MGI
  15. regulation of transcription, DNA-templated Source: MGI
  16. transcription from RNA polymerase II promoter Source: GOC
  17. Wnt signaling pathway Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Microphthalmia-associated transcription factor
Gene namesi
Name:Mitf
Synonyms:Bw, Mi, Vit
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 6

Organism-specific databases

MGIiMGI:104554. Mitf.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in Mitf are the cause of microphthalmia (mi), a condition characterized by loss of pigmentation; reduced eye size; failure of secondary bone resorption; reduced numbers of mast cells; early onset of deafness, and which gives rise to a number of different phenotypes. Among them, microphthalmia-eyeless white (mi-ew) has a normal appearance at the heterozygous state, but shows white coat; eyes almost absent and eyelids never open at homozygosity. Microphthalmia-black and white spot (mi-bws) is normal at heterozygosity, and presents white spots and black eyes at homozygous state. Microphthalmia-white (mi-wh) has reduced coat color and eye pigmentation; spots on toes, tail and belly; inner ear defects at heterozygosity, and at homozygosity shows white coat; eyes small and inner iris slightly pigmented; spinal ganglia, adrenal medulla and dermis smaller than normal, and inner ear defects. Microphthalmia-vitiligo (mi-vi) has normal phenotype at heterozygosity, but shows gradual depigmentation of coat, skin and eyes; and retinal degeneration at homozygosity. Microphthalmia-spotted (mi-sp) shows normal phenotype; at homozygosity, however, tyrosinase activity in skin is reduced. Microphthalmia-defective irism (mi-di) has reduced retinal pigmentation at heterozygosity and shows white coat; eyes of reduced sized and possible mild osteoporosis at homozygosity. Microphthalmia-cloudy eyed (mi-ce) has a normal appearance at the heterozygous state, but shows white coat; eyes of reduced size and unpigmented at homozygosity. Microphthalmia-red-eyed white (mi-rw) has a normal appearance at the homozygous state, but shows white coat with one or more pigmented spots around the head/and or tail; eyes are small and red at heterozygosity. Microphthalmia-black-eyed white (mi-bw) shows a white coat but normal sized eyes which reamin black at homozygosity.

Keywords - Diseasei

Deafness, Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 526526Microphthalmia-associated transcription factorPRO_0000127277Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei180 – 1801Phosphoserine; by MAPK By similarity
Cross-linki289 – 289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Modified residuei405 – 4051Phosphoserine; by GSK3 By similarity
Modified residuei414 – 4141Phosphoserine By similarity
Cross-linki423 – 423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Modified residuei491 – 4911Phosphoserine By similarity
Modified residuei516 – 5161Phosphoserine; by RPS6KA1 By similarity

Post-translational modificationi

Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome By similarity.
Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation By similarity.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ08874.
PRIDEiQ08874.

PTM databases

PhosphoSiteiQ08874.

Expressioni

Tissue specificityi

In the adult, expressed at high levels in the heart, skin, skeletal muscle, intestine, stomach, kidney, ovary, lung, spleen and brain. In the embryo, expressed in developing eye, ear, skin and heart. Isoform M is expressed in melanocytes and also in the embryonic and adult heart while isoform A and isoform H are more widely expressed.1 Publication

Gene expression databases

ArrayExpressiQ08874.
BgeeiQ08874.
CleanExiMM_MITF.
MM_VIT.
GenevestigatoriQ08874.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC. Identified in a complex with HINT1 and CTNNB1 By similarity. Interacts with KARS.1 Publication

Protein-protein interaction databases

BioGridi201427. 9 interactions.
IntActiQ08874. 1 interaction.

Structurei

Secondary structure

1
526
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi324 – 33714
Helixi350 – 36617
Helixi368 – 40134

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ATHX-ray1.95A/B324-403[»]
4ATIX-ray2.60A/B287-403[»]
4ATKX-ray2.95A/B287-403[»]
ProteinModelPortaliQ08874.
SMRiQ08874. Positions 324-402.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini311 – 36454bHLHAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni224 – 29168Transactivation By similarityAdd
BLAST
Regioni374 – 39522Leucine-zipperAdd
BLAST
Regioni401 – 43131DNA binding regulation By similarityAdd
BLAST

Sequence similaritiesi

Belongs to the MiT/TFE family.

Phylogenomic databases

eggNOGiNOG251286.
HOVERGENiHBG006768.
InParanoidiQ08874.
KOiK09455.
PhylomeDBiQ08874.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
[Graphical view]
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. Align

Isoform A (identifier: Q08874-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS    50
SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV 100
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRHQVK QYLSTTLANK 150
HASQVLSSPC PNQPGDHAMP PVPGSSAPNS PMAMLTLNSN CEKEAFYKFE 200
EQSRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 250
MANTLPVSGN LIDLYSNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 300
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK 350
GTILKASVDY IRKLQREQQR AKDLENRQKK LEHANRHLLL RVQELEMQAR 400
AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQELVQHQA DLTCTTTLDL 450
TDGTITFTNN LGTMPESSPA YSIPRKMGSN LEDILMDDAL SPVGVTDPLL 500
SSVSPGASKT SSRRSSMSAE ETEHAC 526
Length:526
Mass (Da):58,627
Last modified:February 21, 2001 - v3
Checksum:i46F759A85ECC4B73
GO
Isoform A1 (identifier: Q08874-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-194: Missing.

Show »
Length:470
Mass (Da):52,768
Checksum:iA355DD0C45BC9E31
GO
Isoform A2 (identifier: Q08874-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     119-222: Missing.
     294-299: Missing.
     318-319: LI → LSKFV

Show »
Length:419
Mass (Da):46,837
Checksum:i99F18E2972927452
GO
Isoform H (identifier: Q08874-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL

Show »
Length:510
Mass (Da):56,814
Checksum:i57F10FE5A4A95175
GO
Isoform H1 (identifier: Q08874-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
     119-254: Missing.

Show »
Length:374
Mass (Da):41,769
Checksum:iA18701591F5D55D9
GO
Isoform H2 (identifier: Q08874-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
     119-254: Missing.
     294-319: ACIFPTESEARALAKERQKKDNHNLI → V

Show »
Length:349
Mass (Da):38,902
Checksum:i686DEC9758924B01
GO
Isoform H3 (identifier: Q08874-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
     139-194: Missing.

Show »
Length:454
Mass (Da):50,954
Checksum:i9859C4B41D4CAA00
GO
Isoform M (identifier: Q08874-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYSHYQ

Show »
Length:419
Mass (Da):46,769
Checksum:i2620A6F93CDED178
GO
Isoform M1 (identifier: Q08874-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYSHYQ
     294-299: Missing.

Show »
Length:413
Mass (Da):46,136
Checksum:iC1A44A4D643E435B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 11883Missing in microphthalmia-red-eyed white/mi-rw.
Add
BLAST
Natural varianti119 – 254136Missing in microphthalmia-white spot/mi-ws.
Add
BLAST
Natural varianti139 – 19456Missing in microphthalmia-black and white spot/mi-bws.
Add
BLAST
Natural varianti294 – 31926ACIFP…NHNLI → V in microphthalmia-eyeless-white/mi-ew.
Add
BLAST
Natural varianti294 – 2996Missing in microphthalmia-spotted/mi-sp.
Natural varianti319 – 3191I → N in microphthalmia-white/mi-wh.
Natural varianti323 – 3231Missing in microphthalmia/mi.
Natural varianti329 – 3291D → N in microphthalmia-vitiligo/mi-vi.
Natural varianti370 – 526157Missing in microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di.
Add
BLAST

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 118118MQSES…MEVLK → MLEMLEYSHYQ in isoform M and isoform M1. VSP_002130Add
BLAST
Alternative sequencei1 – 3535MQSES…PLKSS → MEALRFEMLIPCSFESLCL in isoform H, isoform H1, isoform H2 and isoform H3. VSP_002129Add
BLAST
Alternative sequencei119 – 254136Missing in isoform H1 and isoform H2. VSP_002132Add
BLAST
Alternative sequencei119 – 222104Missing in isoform A2. VSP_002131Add
BLAST
Alternative sequencei139 – 19456Missing in isoform A1 and isoform H3. VSP_002133Add
BLAST
Alternative sequencei294 – 31926ACIFP…NHNLI → V in isoform H2. VSP_002135Add
BLAST
Alternative sequencei294 – 2996Missing in isoform A2 and isoform M1. VSP_002134
Alternative sequencei318 – 3192LI → LSKFV in isoform A2. VSP_002136

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411P → S in AAF81266. 1 Publication
Sequence conflicti41 – 411P → S in AAF81267. 1 Publication
Sequence conflicti41 – 411P → S in AAF81268. 1 Publication
Sequence conflicti41 – 411P → S in AAF81269. 1 Publication
Sequence conflicti41 – 411P → S in AAF81270. 1 Publication
Sequence conflicti41 – 411P → S in AAF81271. 1 Publication
Sequence conflicti41 – 411P → S in AAF81272. 1 Publication
Sequence conflicti48 – 481I → L in AAF81266. 1 Publication
Sequence conflicti48 – 481I → L in AAF81267. 1 Publication
Sequence conflicti48 – 481I → L in AAF81268. 1 Publication
Sequence conflicti48 – 481I → L in AAF81269. 1 Publication
Sequence conflicti48 – 481I → L in AAF81270. 1 Publication
Sequence conflicti48 – 481I → L in AAF81271. 1 Publication
Sequence conflicti48 – 481I → L in AAF81272. 1 Publication
Sequence conflicti52 – 521S → T in AAF81266. 1 Publication
Sequence conflicti52 – 521S → T in AAF81267. 1 Publication
Sequence conflicti52 – 521S → T in AAF81268. 1 Publication
Sequence conflicti52 – 521S → T in AAF81269. 1 Publication
Sequence conflicti52 – 521S → T in AAF81270. 1 Publication
Sequence conflicti52 – 521S → T in AAF81271. 1 Publication
Sequence conflicti52 – 521S → T in AAF81272. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z23066 mRNA. Translation: CAA80600.1.
AF222344 Genomic DNA. Translation: AAF63466.1.
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81266.2.
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81267.2.
AF222959
, AF222950, AF222951, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81268.2.
AF222959
, AF222950, AF222951, AF222956, AF222958 Genomic DNA. Translation: AAF81269.2.
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81270.2.
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81271.2.
AF222959
, AF222949, AF222951, AF222955, AF222956, AF222957, AF222958 Genomic DNA. Translation: AAF81272.2.
AF222952 Genomic DNA. No translation available.
U19874 mRNA. Translation: AAC52155.1.
U19875 mRNA. Translation: AAC52156.1.
L22958 mRNA. Translation: AAB47773.1.
AB009397 mRNA. Translation: BAA32329.1.
CCDSiCCDS20385.1. [Q08874-8]
CCDS51861.1. [Q08874-1]
CCDS51862.1. [Q08874-4]
PIRiA40728.
I49244.
PD0026.
RefSeqiNP_032627.1. NM_008601.3. [Q08874-8]
XP_006505758.1. XM_006505695.1. [Q08874-9]
UniGeneiMm.333284.
Mm.454504.

Genome annotation databases

EnsembliENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158. [Q08874-8]
GeneIDi17342.
KEGGimmu:17342.
UCSCiuc009dbe.2. mouse. [Q08874-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z23066 mRNA. Translation: CAA80600.1 .
AF222344 Genomic DNA. Translation: AAF63466.1 .
AF222959
, AF222949 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81266.2 .
AF222959
, AF222950 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81267.2 .
AF222959
, AF222950 , AF222951 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81268.2 .
AF222959
, AF222950 , AF222951 , AF222956 , AF222958 Genomic DNA. Translation: AAF81269.2 .
AF222959
, AF222950 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81270.2 .
AF222959
, AF222949 , AF222951 , AF222953 , AF222954 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81271.2 .
AF222959
, AF222949 , AF222951 , AF222955 , AF222956 , AF222957 , AF222958 Genomic DNA. Translation: AAF81272.2 .
AF222952 Genomic DNA. No translation available.
U19874 mRNA. Translation: AAC52155.1 .
U19875 mRNA. Translation: AAC52156.1 .
L22958 mRNA. Translation: AAB47773.1 .
AB009397 mRNA. Translation: BAA32329.1 .
CCDSi CCDS20385.1. [Q08874-8 ]
CCDS51861.1. [Q08874-1 ]
CCDS51862.1. [Q08874-4 ]
PIRi A40728.
I49244.
PD0026.
RefSeqi NP_032627.1. NM_008601.3. [Q08874-8 ]
XP_006505758.1. XM_006505695.1. [Q08874-9 ]
UniGenei Mm.333284.
Mm.454504.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4ATH X-ray 1.95 A/B 324-403 [» ]
4ATI X-ray 2.60 A/B 287-403 [» ]
4ATK X-ray 2.95 A/B 287-403 [» ]
ProteinModelPortali Q08874.
SMRi Q08874. Positions 324-402.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 201427. 9 interactions.
IntActi Q08874. 1 interaction.

Chemistry

ChEMBLi CHEMBL1075142.

PTM databases

PhosphoSitei Q08874.

Proteomic databases

PaxDbi Q08874.
PRIDEi Q08874.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000043628 ; ENSMUSP00000044459 ; ENSMUSG00000035158 . [Q08874-8 ]
GeneIDi 17342.
KEGGi mmu:17342.
UCSCi uc009dbe.2. mouse. [Q08874-1 ]

Organism-specific databases

CTDi 4286.
MGIi MGI:104554. Mitf.

Phylogenomic databases

eggNOGi NOG251286.
HOVERGENi HBG006768.
InParanoidi Q08874.
KOi K09455.
PhylomeDBi Q08874.

Miscellaneous databases

ChiTaRSi MITF. mouse.
NextBioi 291916.
PROi Q08874.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q08874.
Bgeei Q08874.
CleanExi MM_MITF.
MM_VIT.
Genevestigatori Q08874.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
[Graphical view ]
Pfami PF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein."
    Hodgkinson C.A., Moore K.J., Nakayama A., Steingrimsson E., Copeland N.G., Jenkins N.A., Arnheiter H.
    Cell 74:395-404(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS M AND M1), VARIANTS MI AND MI-WS, TISSUE SPECIFICITY.
    Tissue: Melanocyte.
  2. "Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus."
    Hallsson J.H., Favor J., Hodgkinson C., Glaser T., Lamoreux M.L., Magnusdottir R., Gunnarsson G.J., Sweet H.O., Copeland N.G., Jenkins N.A., Steingrimsson E.
    Genetics 155:291-300(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, MUTAGENESIS.
    Strain: 129/Sv.
    Tissue: Heart.
  3. Cited for: SEQUENCE REVISION TO 41; 48; 52 AND 91.
  4. "Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences."
    Steingrimsson E., Moore K.J., Lamoreux M.L., Ferre-D'Amare A.R., Burley S.K., Sanders Zimring D.C., Skow L.C., Hodgkinson C.A., Arnheiter H., Copeland N.G., Jenkins N.A.
    Nat. Genet. 8:256-263(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS H AND M), VARIANTS.
    Strain: C57BL/6.
    Tissue: Heart and Melanocyte.
  5. "A helix-loop-helix transcription factor-like gene is located at the mi locus."
    Hughes M.J., Lingrel J.B., Krakowsky J.M., Anderson K.P.
    J. Biol. Chem. 268:20687-20690(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 345-392.
    Strain: C57BL/6.
    Tissue: Heart.
  6. "Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium."
    Amae S., Fuse N., Yasumoto K., Sato S., Yajima I., Yamamoto H., Udono T., Durlu Y.K., Tamai M., Takahashi K., Shibahara S.
    Biochem. Biophys. Res. Commun. 247:710-715(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
  7. "The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential."
    Takebayashi K., Chida K., Tsukamoto I., Morii E., Munakata H., Arnheiter H., Kuroki T., Kitamura Y., Nomura S.
    Mol. Cell. Biol. 16:1203-1211(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  8. "The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells."
    Lee Y.N., Nechushtan H., Figov N., Razin E.
    Immunity 20:145-151(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KARS.
  9. "An L1 element intronic insertion in the black-eyed white (Mitfmi-bw) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness."
    Yajima I., Sato S., Kimura T., Yasumoto K., Shibahara S., Goding C.R., Yamamoto H.
    Hum. Mol. Genet. 8:1431-1441(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MI-BW.

Entry informationi

Entry nameiMITF_MOUSE
AccessioniPrimary (citable) accession number: Q08874
Secondary accession number(s): O08885
, O88203, Q08843, Q60781, Q60782, Q9JIJ0, Q9JIJ1, Q9JIJ2, Q9JIJ3, Q9JIJ4, Q9JIJ5, Q9JIJ6, Q9JKX9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: July 9, 2014
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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