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    MITF microphthalmia-associated transcription factor [ Homo sapiens (human) ]

    Gene ID: 4286, updated on 26-Jul-2015
    Official Symbol
    MITFprovided by HGNC
    Official Full Name
    microphthalmia-associated transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:7105
    See related
    Ensembl:ENSG00000187098; HPRD:01138; MIM:156845; Vega:OTTHUMG00000149921
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MI; WS2; CMM8; WS2A; bHLHe32
    Summary
    This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also 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. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    See MITF in Epigenomics, MapViewer
    Location:
    3p14.2-p14.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (69739435..69968337)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69788586..70017488)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene FERM domain containing 4B Neighboring gene RNA binding motif protein 43 pseudogene 1 Neighboring gene H1 histone family, member O, oocyte-specific pseudogene Neighboring gene uncharacterized LOC105377149 Neighboring gene long intergenic non-protein coding RNA 1212 Neighboring gene RNA-binding region (RNP1, RRM) containing 3 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Albinism, ocular, with sensorineural deafness
    MedGen: C1863198 OMIM: 103470 GeneReviews: Not available
    Compare labs
    Cutaneous malignant melanoma 8
    MedGen: C3152204 OMIM: 614456 GeneReviews: Not available
    Compare labs
    Tietz syndrome
    MedGen: C0391816 OMIM: 103500 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 2A
    MedGen: C1860339 OMIM: 193510 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-31)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-31)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    bone remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway involved in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    mast cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    melanocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    melanocyte differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA-templated transcription, initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of RNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    microphthalmia-associated transcription factor
    Names
    class E basic helix-loop-helix protein 32
    microphtalmia-associated transcription factor

    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

    1. NG_011631.1 RefSeqGene

      Range
      4954..233856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_776

    mRNA and Protein(s)

    1. NM_000248.3NP_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/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:202262
      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 homo- and heterodimers, ...
      pfam11851
      Location:290403
      DUF3371; Domain of unknown function (DUF3371)
    2. NM_001184967.1NP_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)
      AC104449, AK296129, AL110195, AL117653, AW242257
      Consensus CDS
      CCDS54607.1
      UniProtKB/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:251311
      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 homo- and heterodimers, ...
      pfam11851
      Location:339452
      DUF3371; Domain of unknown function (DUF3371)
    3. NM_001184968.1NP_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)
      BC012503, BQ219650
      Consensus CDS
      CCDS74962.1
      UniProtKB/TrEMBL
      A0A087WXU1
      Related
      ENSP00000481286, OTTHUMP00000274786, ENST00000394348, OTTHUMT00000313946
    4. NM_006722.2NP_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/Swiss-Prot
      O75030
      UniProtKB/TrEMBL
      Q8WYR3
      Related
      ENSP00000327867, ENST00000328528
      Conserved Domains (2) summary
      cd00083
      Location:302362
      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 homo- and heterodimers, ...
      pfam11851
      Location:390503
      DUF3371; Domain of unknown function (DUF3371)
    5. NM_198158.2NP_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/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:196256
      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 homo- and heterodimers, ...
      pfam11851
      Location:284397
      DUF3371; Domain of unknown function (DUF3371)
    6. NM_198159.2NP_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/Swiss-Prot
      O75030
      Related
      ENSP00000295600, OTTHUMP00000195123, ENST00000352241, OTTHUMT00000313920
      Conserved Domains (2) summary
      cd00083
      Location:303363
      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 homo- and heterodimers, ...
      pfam11851
      Location:391504
      DUF3371; Domain of unknown function (DUF3371)
    7. NM_198177.2NP_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
      UniProtKB/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:287347
      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 homo- and heterodimers, ...
      pfam11851
      Location:375488
      DUF3371; Domain of unknown function (DUF3371)
    8. NM_198178.2NP_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/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:140200
      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 homo- and heterodimers, ...
      pfam11851
      Location:228341
      DUF3371; Domain of unknown function (DUF3371)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      69739435..69968337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533725.1XP_011532027.1  

      See identical proteins and their annotated locations for XP_011532027.1

      Conserved Domains (2) summary
      cd00083
      Location:253313
      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 homo- and heterodimers, ...
      pfam11851
      Location:341454
      DUF3371; Domain of unknown function (DUF3371)
    2. XM_011533726.1XP_011532028.1  

      Conserved Domains (2) summary
      cd00083
      Location:247307
      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 homo- and heterodimers, ...
      pfam11851
      Location:335448
      DUF3371; Domain of unknown function (DUF3371)
    3. XM_011533722.1XP_011532024.1  

      Conserved Domains (2) summary
      cd00083
      Location:308368
      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 homo- and heterodimers, ...
      pfam11851
      Location:396509
      DUF3371; Domain of unknown function (DUF3371)
    4. XM_005264754.1XP_005264811.1  

      See identical proteins and their annotated locations for XP_005264811.1

      UniProtKB/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:309369
      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 homo- and heterodimers, ...
      pfam11851
      Location:397510
      DUF3371; Domain of unknown function (DUF3371)
    5. XM_006713164.2XP_006713227.1  

      See identical proteins and their annotated locations for XP_006713227.1

      Conserved Domains (2) summary
      cd00083
      Location:257317
      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 homo- and heterodimers, ...
      pfam11851
      Location:345458
      DUF3371; Domain of unknown function (DUF3371)
    6. XM_011533724.1XP_011532026.1  

      See identical proteins and their annotated locations for XP_011532026.1

      Conserved Domains (2) summary
      cd00083
      Location:257317
      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 homo- and heterodimers, ...
      pfam11851
      Location:345458
      DUF3371; Domain of unknown function (DUF3371)
    7. XM_005264755.2XP_005264812.1  

      See identical proteins and their annotated locations for XP_005264812.1

      UniProtKB/Swiss-Prot
      O75030
      Conserved Domains (2) summary
      cd00083
      Location:293353
      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 homo- and heterodimers, ...
      pfam11851
      Location:381494
      DUF3371; Domain of unknown function (DUF3371)
    8. XM_011533723.1XP_011532025.1  

      Conserved Domains (2) summary
      cd00083
      Location:292352
      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 homo- and heterodimers, ...
      pfam11851
      Location:380493
      DUF3371; Domain of unknown function (DUF3371)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      69739823..69968702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)