Gene name:
MITF (BHLHE32) ;
Protein name:
Microphthalmia-associated transcription factor ;
Alternative:
Class E basic helix-loop-helix protein 32 (bHLHe32) ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC. Interacts with KARS.
Function:
Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
Subcellular Location:
Nucleus
Protein Attributes:
50:
MQSESGIVPD | FEVGEEFHEE | PKTYYELKSQ | PLKSSSSAEH | PGASKPPISS |
100:
SSMTSRILLR | QQLMREQMQE | QERREQQQKL | QAAQFMQQRV | PVSQTPAINV |
150:
SVPTTLPSAT | QVPMEVLKVQ | THLENPTKYH | IQQAQRQQVK | QYLSTTLANK |
200:
HANQVLSLPC | PNQPGDHVMP | PVPGSSAPNS | PMAMLTLNSN | CEKEGFYKFE |
250:
EQNRAESECP | GMNTHSRASC | MQMDDVIDDI | ISLESSYNEE | ILGLMDPALQ |
300:
MANTLPVSGN | LIDLYGNQGL | PPPGLTISNS | CPANLPNIKR | ELTACIFPTE |
350:
SEARALAKER | QKKDNHNLIE | RRRRFNINDR | IKELGTLIPK | SNDPDMRWNK |
400:
GTILKASVDY | IRKLQREQQR | AKELENRQKK | LEHANRHLLL | RIQELEMQAR |
450:
AHGLSLIPST | GLCSPDLVNR | IIKQEPVLEN | CSQDLLQHHA | DLTCTTTLDL |
500:
TDGTITFNNN | LGTGTEANQA | YSVPTKMGSK | LEDILMDDTL | SPVGVTDPLL |
526:
SSVSPGASKT | SSRRSSMSME | ETEHTC
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Mouse
Human
Rat
ELISA Kit for Human Microphthalmia-associated transcription factor
ELISA Kit for Human Microphthalmia-associated transcription factor
ELISA Kit for Human Microphthalmia-associated transcription factor
CLIA Kit for Human Microphthalmia-associated transcription factor
CLIA Kit for Human Microphthalmia-associated transcription factor
CLIA Kit for Human Microphthalmia-associated transcription factor
Polyclonal Antibody for Human Microphthalmia-associated transcription factor
Polyclonal Antibody for Human Microphthalmia-associated transcription factor
Polyclonal Antibody for Human Microphthalmia-associated transcription factor
Monoclonal Antibody for Human Microphthalmia-associated transcription factor
Monoclonal Antibody for Human Microphthalmia-associated transcription factor
Monoclonal Antibody for Human Microphthalmia-associated transcription factor
Protein for Human Microphthalmia-associated transcription factor
Protein for Human Microphthalmia-associated transcription factor
Protein for Human Microphthalmia-associated transcription factor
R&D Technical Data
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Precision
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Recovery
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Linearity
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A2);NUCLEOTIDE SEQUENCE [MRNA] OF 1-35 (ISOFORMS H1/H2)
tissue :
Kidney .
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"Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3."
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M1)
tissue :
Skin .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM MDEL);TISSUE SPECIFICITY
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"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
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Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A2)
tissue :
Uterus .
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[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 12)
tissue :
Thalamus .
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[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS M1 AND M2)
tissue :
Skin .
8.
"Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters."
Udono T.
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Yasumoto K.
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Biochim. Biophys. Acta1491:205-219(2000)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1/A2; B1/B2; H1/H2 AND M1/M2)
9.
"Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus."
Fuse N.
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Yasumoto K.
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J. Biochem.126:1043-1051(1999)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ALTERNATIVE SPLICING (ISOFORM C1/C2)
tissue :
Kidney .
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION AT SER-180 AND SER-516;UBIQUITINATION;MUTAGENESIS OF SER-180 AND SER-516
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION;MUTAGENESIS OF SER-405;PHOSPHORYLATION AT SER-405
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH KARS
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SUMOYLATION AT LYS-289 AND LYS-423;MUTAGENESIS OF LYS-289 AND LYS-423
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
16.
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Sci. Signal.3:RA3-RA3(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
17.
"A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma."
Bertolotto C.
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Cited for : INVOLVEMENT IN CMM8;VARIANT LYS-425
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Cited for : INVOLVEMENT IN CMM8;VARIANT LYS-425;CHARACTERIZATION OF VARIANT LYS-425
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Cited for : VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405
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Cited for : VARIANT TIETZS LYS-317
tissue :
Blood .