Gene ID: 4286, updated on 12-Sep-2024
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Summary
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- Official Symbol
- MITFprovided by HGNC
- Official Full Name
- melanocyte inducing transcription factorprovided by HGNC
- Primary source
- HGNC:HGNC:7105
- See related
- Ensembl:ENSG00000187098 MIM:156845; AllianceGenome:HGNC:7105
- Gene type
- protein coding
- RefSeq status
- REVIEWED
- Organism
- hom*o sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; hom*o
- Also known as
- MI; WS2; CMM8; WS2A; COMMAD; MITF-A; bHLHe32
- Summary
- The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
- Expression
- Broad expression in endometrium (RPKM 9.9), heart (RPKM 3.9) and 19 other tissues See more
- Orthologs
- mouse all
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Genomic context
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- Location:
- 3p13
- Exon count:
- 17
Annotation release | Status | Assembly | Chr | Location |
---|---|---|---|---|
RS_2024_08 | current | GRCh38.p14 (GCF_000001405.40) | 3 | NC_000003.12 (69739464..69968332) |
RS_2024_08 | current | T2T-CHM13v2.0 (GCF_009914755.1) | 3 | NC_060927.1 (69776362..70005284) |
RS_2024_09 | previous assembly | GRCh37.p13 (GCF_000001405.25) | 3 | NC_000003.11 (69788615..70017483) |
Chromosome 3 - NC_000003.12
Genomic regions, transcripts, and products
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Expression
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- Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
- Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
- BioProject: PRJEB4337
- Publication: PMID 24309898
- Analysis date: Wed Apr 4 07:08:55 2018
Bibliography
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Related articles in PubMed
- MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells and Impairs IgE-Dependent Degranulation. Proaño-Pérez E, et al. Int J Mol Sci, 2023 Feb 9. PMID 36834926, Free PMC Article
- The microphthalmia-associated transcription factor is involved in gastrointestinal stromal tumor growth. Proaño-Pérez E, et al. Cancer Gene Ther, 2023 Feb. PMID 36241703
- MiTF/TFE Translocation Renal Cell Carcinomas: From Clinical Entities to Molecular Insights. Simonaggio A, et al. Int J Mol Sci, 2022 Jul 11. PMID 35886994, Free PMC Article
- The MITF regulatory network in melanoma. Chauhan JS, et al. Pigment Cell Melanoma Res, 2022 Sep. PMID 35771179, Free PMC Article
- A review of neoplasms with MITF/MiT family translocations. Wei S, et al. Histol Histopathol, 2022 Apr. PMID 35107169
GeneRIFs: Gene References Into Functions
- UVB-induced TRPS1 regulates MITF transcription activity to promote skin pigmentation.
Title: UVB-induced TRPS1 regulates MITF transcription activity to promote skin pigmentation.
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
Title: Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
- MITF regulates the subcellular location of HIF1alpha through SUMOylation to promote the invasion and metastasis of daughter cells derived from polyploid giant cancer cells.
Title: MITF regulates the subcellular location of HIF1α through SUMOylation to promote the invasion and metastasis of daughter cells derived from polyploid giant cancer cells.
- Emerging roles of MITF as a crucial regulator of immunity.
Title: Emerging roles of MITF as a crucial regulator of immunity.
- Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.
Title: Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.
- Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode.
Title: Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode.
- GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation.
Title: GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation.
- Acetylation reprograms MITF target selectivity and residence time.
Title: Acetylation reprograms MITF target selectivity and residence time.
- Integrative analyses of RNA-seq and ChIP-seq Reveal MITF as a Target Gene of TFPI-2 in MDA231 Cells.
Title: Integrative analyses of RNA-seq and ChIP-seq Reveal MITF as a Target Gene of TFPI-2 in MDA231 Cells.
- MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells and Impairs IgE-Dependent Degranulation.
Title: MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells and Impairs IgE-Dependent Degranulation.
Phenotypes
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Find tests for this gene in the NIH Genetic Testing Registry (GTR)
Review eQTL and phenotype association data in this region using PheGenI
Associated conditions
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-04-13) Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13) |
EBI GWAS Catalog
Description |
---|
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog |
Variation
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Pathways from PubChem
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Interactions
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Products | Interactant | Other Gene | Complex | Source | Pubs | Description |
---|
General gene information
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Markers
- Mitf (e-PCR), detects polymorphism
- RH28674 (e-PCR)
- D3S3964 (e-PCR)
- D3S2825E (e-PCR)
- GDB:363545 (e-PCR)
- MITF_7830 (e-PCR)
- SHGC-81156 (e-PCR)
- SHGC-77109 (e-PCR)
- RH119999 (e-PCR)
- STS-N33393 (e-PCR)
- SHGC-84185 (e-PCR)
- RH77689 (e-PCR)
Gene Ontology Provided by GOA
Component | Evidence Code | Pubs |
---|---|---|
part_of chromatin | ISA Inferred from Sequence Alignment | |
located_in cytoplasm | IDA Inferred from Direct Assay | PubMed |
located_in lysosomal membrane | IDA Inferred from Direct Assay | PubMed |
located_in nucleoplasm | TAS Traceable Author Statement | |
is_active_in nucleus | IBA Inferred from Biological aspect of Ancestor | |
is_active_in nucleus | IDA Inferred from Direct Assay | PubMed |
located_in nucleus | IDA Inferred from Direct Assay | PubMed |
located_in nucleus | NAS Non-traceable Author Statement | PubMed |
part_of protein-containing complex | IDA Inferred from Direct Assay | PubMed |
General protein information
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- Preferred Names
- microphthalmia-associated transcription factor
- Names
- class E basic helix-loop-helix protein 32
- melanogenesis associated transcription factor
- microphtalmia-associated transcription factor
NCBI Reference Sequences (RefSeq)
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RefSeqs maintained independently of Annotated Genomes
These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.
Genomic
-
NG_011631.1RefSeqGene
- Range
- 4954..233856
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_776
mRNA and Protein(s)
-
NM_000248.4 → NP_000239.1 microphthalmia-associated transcription factor isoform 4
See identical proteins and their annotated locations for NP_000239.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) differs in the 5' UTR, the 5' coding region and uses an alternate, in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (4), also known as isoform MITF-M, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
- AC104449, AL117653, AW242257, BQ219650, Z29678
- Consensus CDS
- CCDS2913.1
- UniProtKB/TrEMBL
- A0A0H3W5T2
- Related
- ENSP00000377880.3, ENST00000394351.9
- Conserved Domains (3) summary
-
- cd00083
Location:202 → 262 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:290 → 403 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 87 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_001184967.2 → NP_001171896.1 microphthalmia-associated transcription factor isoform 7
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
- Source sequence(s)
- AC104445, AC104449, AK296129, AL110195, AL117653, AW242257
- Consensus CDS
- CCDS54607.1
- UniProtKB/TrEMBL
- A0A0H3W5T2
- Related
- ENSP00000418845.1, ENST00000472437.5
- Conserved Domains (3) summary
-
- cd00083
Location:251 → 311 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:339 → 458 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:4 → 142 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_001184968.2 → NP_001171897.1 microphthalmia-associated transcription factor isoform 8
See identical proteins and their annotated locations for NP_001171897.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 8) is shorter than isoform 1 and has unique N- and C-termini.
- Source sequence(s)
- AC104449, BC012503, BQ219650
- Consensus CDS
- CCDS74962.1
- UniProtKB/TrEMBL
- A0A087WXU1, E9PKJ8
- Related
- ENSP00000481286.1, ENST00000394348.2
- Conserved Domains (1) summary
-
- pfam15951
Location:11 → 88 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- pfam15951
-
NM_001354604.2 → NP_001341533.1 microphthalmia-associated transcription factor isoform 9
Status: REVIEWED
- Source sequence(s)
- AC099326, AC104445, AC104449
- Consensus CDS
- CCDS87108.1
- UniProtKB/Swiss-Prot
- B4DJL2, D3K197, E9PFN0, O75030, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
- UniProtKB/TrEMBL
- A8K5K3
- Related
- ENSP00000295600.8, ENST00000352241.9
- Conserved Domains (3) summary
-
- cd00083
Location:309 → 369 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:397 → 516 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:56 → 194 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_001354605.2 → NP_001341534.1 microphthalmia-associated transcription factor isoform 10
Status: REVIEWED
- Source sequence(s)
- AC099326, AC104445, AC104449
- UniProtKB/TrEMBL
- A8K5K3
- Conserved Domains (3) summary
-
- cd00083
Location:308 → 368 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:396 → 515 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:55 → 193 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_001354606.2 → NP_001341535.1 microphthalmia-associated transcription factor isoform 11
Status: REVIEWED
- Source sequence(s)
- AC099326, AC104445, AC104449
- UniProtKB/TrEMBL
- A8K5K3
- Conserved Domains (1) summary
-
- cd18926
Location:293 → 396 - bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
- cd18926
-
NM_001354607.2 → NP_001341536.1 microphthalmia-associated transcription factor isoform 12
Status: REVIEWED
- Source sequence(s)
- AC099326, AC104445, AC104449, AC124915
- Consensus CDS
- CCDS93308.1
- UniProtKB/TrEMBL
- A0A8I5KSZ4, B4DNC7
- Related
- ENSP00000510225.1, ENST00000687384.1
- Conserved Domains (3) summary
-
- cd00083
Location:286 → 346 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:374 → 493 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:39 → 177 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_001354608.2 → NP_001341537.1 microphthalmia-associated transcription factor isoform 7
Status: REVIEWED
- Description
- Transcript Variant: This variant (13), as well as variant 7, encodes isoform 7.
- Source sequence(s)
- AC099326, AC104445, AC104449, AC124915
- Consensus CDS
- CCDS54607.1
- UniProtKB/TrEMBL
- A0A0H3W5T2
- Conserved Domains (3) summary
-
- cd00083
Location:251 → 311 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:339 → 458 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:4 → 142 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_006722.3 → NP_006713.1 microphthalmia-associated transcription factor isoform 3
See identical proteins and their annotated locations for NP_006713.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (3), also known as isoform MITF-C, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
- AB006988, AC104449, AL110195, AL117653, AW242257
- UniProtKB/TrEMBL
- B4DNC7
- Related
- ENSP00000391803.3, ENST00000448226.9
- Conserved Domains (3) summary
-
- cd00083
Location:302 → 362 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:390 → 503 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:55 → 193 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_198158.3 → NP_937801.1 microphthalmia-associated transcription factor isoform 5
See identical proteins and their annotated locations for NP_937801.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (5), has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
- AC104449, AL117653, AW242257, BC026961, BQ219650
- Consensus CDS
- CCDS43107.1
- UniProtKB/TrEMBL
- A0A0H3W5T2
- Related
- ENSP00000324246.6, ENST00000314557.10
- Conserved Domains (3) summary
-
- cd00083
Location:196 → 256 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:284 → 403 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 87 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_198159.3 → NP_937802.1 microphthalmia-associated transcription factor isoform 1
See identical proteins and their annotated locations for NP_937802.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1), also known as isoform MITF-A.
- Source sequence(s)
- AC104449, AL110195, AL117653, AW242257, DA058963
- Consensus CDS
- CCDS43106.1
- UniProtKB/TrEMBL
- A8K5K3
- Related
- ENSP00000494105.1, ENST00000642352.1
- Conserved Domains (3) summary
-
- cd00083
Location:303 → 363 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:391 → 504 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:56 → 194 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_198177.3 → NP_937820.1 microphthalmia-associated transcription factor isoform 2
See identical proteins and their annotated locations for NP_937820.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (2), also known as isoform MITF-H, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
- AC104449, AK297858, AL110195, AL117653, AW242257, DC388606
- Consensus CDS
- CCDS46865.1
- UniProtKB/TrEMBL
- B4DNC7
- Related
- ENSP00000324443.5, ENST00000314589.11
- Conserved Domains (3) summary
-
- cd00083
Location:287 → 347 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:375 → 488 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:40 → 178 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
-
NM_198178.3 → NP_937821.2 microphthalmia-associated transcription factor isoform 6
See identical proteins and their annotated locations for NP_937821.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) differs in the 5' UTR and the 5' coding region, and uses two alternate, in-frame splice sites in the coding region compared to variant 1. The resulting isoform (6), also known as isoform MITF-Mdel, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
- AC104449, AL117653, AW242257, BQ219650, GU355676
- Consensus CDS
- CCDS46866.2
- UniProtKB/TrEMBL
- A0A0H3W5T2
- Related
- ENSP00000435909.1, ENST00000531774.1
- Conserved Domains (3) summary
-
- cd00083
Location:140 → 200 - HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms hom*o- and heterodimers, ...
- pfam11851
Location:228 → 341 - DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 31 - MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
- cd00083
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08
The following sections contain reference sequences that belong to a specific genome build. Explain
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000003.12Reference GRCh38.p14 Primary Assembly
- Range
- 69739464..69968332
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060927.1Alternate T2T-CHM13v2.0
- Range
- 69776362..70005284
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
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Nucleotide | Protein | |
---|---|---|
Heading | Accession and Version |
Protein Accession | Links | |
---|---|---|
GenPept Link | UniProtKB Link | |
O75030.2 | GenPept | UniProtKB/Swiss-Prot:O75030 |
Additional links
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Gene LinkOut
The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.
- Interologous Interaction Database
- MilliporeSigma
- Bgee database
- BioGPS
- BioGRID Open Repository of CRISPR Screens (ORCS)
- Eukaryotic Promoter Database
- GlyGen glycoinformatics resource
- Human Gene Mutation Database
- Human eFP Browser
- Ingenuity Pathways Analysis
- InnateDB
- InterMine
- Kyoto Encyclopedia of Genes and Genomes
- OMA Browser: Orthologous MAtrix
- OrthoDB catalog of orthologs
- PANTHER Classification System
- PhosphoSitePlus
- The Gene Wiki
- The Weizmann Institute of Science GeneCards and MalaCards databases
- Addgene Non-profit plasmid repository
- Bio-Techne
- Creative Biogene
- ExactAntigen/Labome
- GenScript latest version of gene cDNA ORF Clone
- GeneCopoeia Inc.
- GeneTex Inc
- Kazusa DNA Research Institute
- OriGene