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Gene Model: Mitf

NomenclatureGenomic Location
SymbolMitfChromosome2
NameMicrophthalmia-associated
transcription factor		Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 67 Mbp

Molecular 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.

Molecular Function Terms:

binding
   chromatin binding
   nucleic acid binding
      DNA binding

nucleic acid binding transcription factor activity
   sequence-specific DNA binding transcription factor activity

Human Disease Association

Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance.

Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness.

Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.

Predicted Transcript
     1 ATGCTGGAAATGCTTGAGTATAATCACTACCAGGTGCAAACTCACCTGGAAAACCCTACC
    61 AAGTATCACATCCAACAAGCTCAGCGGCAGCAAGTCAAGCAGTACCTCTCCACAACTTTG
   121 GGTAACAAGCACACCAACCAGGCTCTAAGTTTACCATGCCCAAACCAGCCAGGTGAACAT
   181 GTTATGCCACCAGGCACAGGAAGCAGTGCACCCAACAGCCCCATGGCCATGCTTACACTC
   241 AACTCCAACTGTGAAAAAGAGGGCTTTTATAAATTTGAAGAGCAAAACAACCGTGCAGAG
   301 AGTGAATGTCAAACTCTGAATACGCATTCTCGAGCATCATGCATGCAGATGGATGATGTT
   361 ATTGATGACATAATAAGTTTGGAATCAAGTTACAATGAAGAAATCTTTGGTTTAATGGAT
   421 CCTGCACTACAAATGGCAAACACGTTACCGGTATCTGGCAATCTTGTAGATCTATATAGC
   481 AACCAAGGCATTCCTCCCCCAGGCCTCAACATCAGCAACTCGTGTCCTGCTAACCTTCCT
   541 CATGTAAAAAGGGAACTTACAGCATGTGTATTTCCCACAGAGTCAGAGGCAAGAGCATTG
   601 GCCAAAGAGAGGCAAAAGAAAGACAATCACAATTTAATTGAACGAAGAAGACGATTCAAT
   661 ATTAATGATCGCATAAAAGAACTTGGCACTTTGATACCCAAGTCGAACGACCCGGATATG
   721 CGTTGGAATAAGGGAACTATTTTAAAAGCCTCTGTAGACTATATCCGCAAGTTGCAAAGA
   781 GAACAACAACGTACAAAAGAATTAGAGAACAGACAAAAGAAACTGGAACATGCCAACAGA
   841 CACCTCTTGCTCAGAATACAGGAACTTGAGATGCAGGCTCGAGCACATGGACTTTCCATC
   901 ATCCCAACTTCAGGCCTTTGCTCACCAGAAATGGTCAACCGGCTTATTAAGCAGGAGCCT
   961 GTCCTTGACAACTGCAGCCAAGAGATATTGCAGCATCATCCTGACCTATCTTGCACAACC
  1021 ACACTCGACCTTACAGATGGCACTATCACTTTCAATGACAGCCTGGCAAACGTGACAGAG
  1081 TCAACCACTGGCACTTATGCTGTTCCAACAAAAATGGGATCCAAACTGGAAGACATCTTG
  1141 ATGGACGATACCCTCTCTCCCGTCGGGGTTACCGACCCACTCCTTTCATCAGTCTCTCCT
  1201 GGAGCTTCAAAAGCAAGTAGCCGAAGGAGCAGCGTGAGCATGGAGGATACCGACCATGCT
  1261 TGCTAG

Predicted Protein Product
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLGNKHTNQALSLPCPNQPGEH
VMPPGTGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNNRAESECQTLNTHSRASCMQMDDV
IDDIISLESSYNEEIFGLMDPALQMANTLPVSGNLVDLYSNQGIPPPGLNISNSCPANLP
HVKRELTACVFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDM
RWNKGTILKASVDYIRKLQREQQRTKELENRQKKLEHANRHLLLRIQELEMQARAHGLSI
IPTSGLCSPEMVNRLIKQEPVLDNCSQEILQHHPDLSCTTTLDLTDGTITFNDSLANVTE
STTGTYAVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKASSRRSSVSMEDTDHA
C
Protein Alignment to Mouse
tr|Q32MU7|Q32MU7_MOUSE Microphthalmia-associated transcription factor OS=Mus
            musculus GN=Mitf PE=2 SV=1
      MGI:1333760 Tcfec transcription factor EC (Chr 6)
        Length = 419

 Score = 1746 (619.7 bits), Expect = 1.4e-180, P = 1.4e-180
 Identities = 330/421 (78%), Positives = 359/421 (85%)

Query:     1 MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLGNKHTNQALSLPCPNQPGEH 60
             MLEMLEY+HYQVQTHLENPTKYHIQQAQR QVKQYLSTTL NKH +Q LS PCPNQPG+H
Sbjct:     1 MLEMLEYSHYQVQTHLENPTKYHIQQAQRHQVKQYLSTTLANKHASQVLSSPCPNQPGDH 60

Query:    61 VMPPGTGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNNRAESECQTLNTHSRASCMQMDDV 120
              MPP  GSSAPNSPMAMLTLNSNCEKE FYKFEEQ+ RAESEC  +NTHSRASCMQMDDV
Sbjct:    61 AMPPVPGSSAPNSPMAMLTLNSNCEKEAFYKFEEQS-RAESECPGMNTHSRASCMQMDDV 119

Query:   121 IDDIISLESSYNEEIFGLMDPALQMANTLPVSGNLVDLYSNQGIPPPGLNISNSCPANLP 180
             IDDIISLESSYNEEI GLMDPALQMANTLPVSGNL+DLYSNQG+PPPGL ISNSCPANLP
Sbjct:   120 IDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYSNQGLPPPGLTISNSCPANLP 179

Query:   181 HVKRELTACVFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDM 240
             ++KRELTAC+FPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDM
Sbjct:   180 NIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDM 239

Query:   241 RWNKGTILKASVDYIRKLQREQQRTKELENRQKKLEHANRHLLLRIQELEMQARAHGLSI 300
             RWNKGTILKASVDYIRKLQREQQR K+LENRQKKLEHANRHLLLR+QELEMQARAHGLS+
Sbjct:   240 RWNKGTILKASVDYIRKLQREQQRAKDLENRQKKLEHANRHLLLRVQELEMQARAHGLSL 299

Query:   301 IPTSGLCSPEMVNRLIKQEPVLDNCSQEILQHHPXXXXXXXXXXXXXXXXFNDSLANVTE 360
             IP++GLCSP++VNR+IKQEPVL+NCSQE++QH                  F ++L  + E
Sbjct:   300 IPSTGLCSPDLVNRIIKQEPVLENCSQELVQHQADLTCTTTLDLTDGTITFTNNLGTMPE 359

Query:   361 STTGTYAVPTKMGSKLEDILMDDTLSPVGVTDPLLXXXXXXXXXXXXXXXXXXMEDTDHA 420
             S+   Y++P KMGS LEDILMDD LSPVGVTDPLL                   E+T+HA
Sbjct:   360 SSPA-YSIPRKMGSNLEDILMDDALSPVGVTDPLLSSVSPGASKTSSRRSSMSAEETEHA 418

Query:   421 C 421
             C
Sbjct:   419 C 419