O75030 (MITF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Microphthalmia-associated transcription factor

Alternative name(s):
Class E basic helix-loop-helix protein 32
Short name=bHLHe32

Gene names

Name:	MITF
Synonyms:	BHLHE32

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	526 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	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. Ref.8
Subcellular location	Nucleus.
Tissue specificity	Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells.
Post-translational modification	Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.
Involvement in disease	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. Ref.13 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. Ref.14
Sequence similarities	Belongs to the MiT/TFE family. Contains 1 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Albinism Deafness Disease mutation Waardenburg syndrome
Ligand	DNA-binding
Molecular function	Activator Developmental protein
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	melanocyte differentiation Non-traceable author statement Ref.1. Source: UniProtKB multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW protein complex assembly Inferred from direct assay. Source: UniProtKB
Cellular component	nucleus Non-traceable author statement Ref.6Ref.1. Source: UniProtKB protein complex Inferred from direct assay. Source: UniProtKB
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 10 isoforms produced by alternative splicing. [Align] [Select]

Note: The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.

Isoform A1 (identifier: O75030-1)

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.

Isoform A2 (identifier: O75030-2)

The sequence of this isoform differs from the canonical sequence as follows:
     294-299: Missing.

Isoform B1 (identifier: O75030-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH

Isoform B2 (identifier: O75030-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
     294-299: Missing.

Isoform C1 (identifier: O75030-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR

Isoform C2 (identifier: O75030-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
     294-299: Missing.

Isoform H1 (identifier: O75030-7)

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

Isoform H2 (identifier: O75030-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
     294-299: Missing.

Isoform M1 (identifier: O75030-9)

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

Isoform M2 (identifier: O75030-10)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 526	526	Microphthalmia-associated transcription factor		PRO_0000127276
Regions
	Domain	325 – 365	41	Helix-loop-helix motif
	Domain	374 – 395	22	Leucine-zipper
	DNA binding	309 – 324	16	Basic motif
	Region	224 – 295	72	Transactivation
	Region	401 – 431	31	DNA binding regulation
Amino acid modifications
	Modified residue	54	1	Phosphothreonine Ref.10
	Modified residue	405	1	Phosphoserine; by GSK3 Ref.7
	Modified residue	414	1	Phosphoserine Ref.11 Ref.12
	Cross-link	289		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.9
	Cross-link	423		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.9
Natural variations
	Alternative sequence	1 – 118	118	MQSES…MEVLK → MLEMLEYNHYQ in isoform M1 and isoform M2.		VSP_002127
	Alternative sequence	1 – 35	35	MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2.		VSP_002126
	Alternative sequence	1 – 34	34	MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2.		VSP_002124
	Alternative sequence	1 – 34	34	MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2.		VSP_002125
	Alternative sequence	294 – 299	6	Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2.		VSP_002128
	Natural variant	310	1	R → K in WS2A; could be a polymorphism. Ref.13		VAR_010297
	Natural variant	317	1	N → K in TIETZS. Ref.14		VAR_010298
	Natural variant	324	1	Missing in WS2A.		VAR_010299
	Natural variant	357	1	S → P in WS2A. Ref.13		VAR_010300
	Natural variant	385	1	N → D in WS2A. Ref.13		VAR_010301
	Natural variant	405	1	S → P in WS2A. Ref.13		VAR_010302
Experimental info
	Mutagenesis	289	1	K → R: Loss of sumoylation; when associated with R-423. Ref.9
	Mutagenesis	405	1	S → A or P: Loss of phosphorylation and function. Ref.7
	Mutagenesis	423	1	K → R: Loss of sumoylation; when associated with R-289. Ref.9

Sequences

	Sequence		Length	Mass (Da)
	Isoform A1 [UniParc]. Last modified February 21, 2001. Version 2. Checksum: 136EBED3044C1986	FASTA	526	58,795
	10 20 30 40 50 60 MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR 70 80 90 100 110 120 QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ 130 140 150 160 170 180 THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS 190 200 210 220 230 240 PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE 250 260 270 280 290 300 ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 310 320 330 340 350 360 SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY 370 380 390 400 410 420 IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR AHGLSLIPST GLCSPDLVNR 430 440 450 460 470 480 IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL TDGTITFNNN LGTGTEANQA YSVPTKMGSK 490 500 510 520 LEDILMDDTL SPVGVTDPLL SSVSPGASKT SSRRSSMSME ETEHTC
	Isoform A2 [UniParc]. Checksum: DEE08CB1E59B9511	FASTA	520	58,163
	10 20 30 40 50 60 MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR 70 80 90 100 110 120 QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ 130 140 150 160 170 180 THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS 190 200 210 220 230 240 PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE 250 260 270 280 290 300 ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTESEARAL 310 320 330 340 350 360 AKERQKKDNH NLIERRRRFN INDRIKELGT LIPKSNDPDM RWNKGTILKA SVDYIRKLQR 370 380 390 400 410 420 EQQRAKELEN RQKKLEHANR HLLLRIQELE MQARAHGLSL IPSTGLCSPD LVNRIIKQEP 430 440 450 460 470 480 VLENCSQDLL QHHADLTCTT TLDLTDGTIT FNNNLGTGTE ANQAYSVPTK MGSKLEDILM 490 500 510 520 DDTLSPVGVT DPLLSSVSPG ASKTSSRRSS MSMEETEHTC
	Isoform B1 [UniParc]. Checksum: 57BB6D9C60C50A76	FASTA	501	56,038
	10 20 30 40 50 60 MLYAFWFSHS SSAEHPGASK PPISSSSMTS RILLRQQLMR EQMQEQERRE QQQKLQAAQF 70 80 90 100 110 120 MQQRVPVSQT PAINVSVPTT LPSATQVPME VLKVQTHLEN PTKYHIQQAQ RQQVKQYLST 130 140 150 160 170 180 TLANKHANQV LSLPCPNQPG DHVMPPVPGS SAPNSPMAML TLNSNCEKEG FYKFEEQNRA 190 200 210 220 230 240 ESECPGMNTH SRASCMQMDD VIDDIISLES SYNEEILGLM DPALQMANTL PVSGNLIDLY 250 260 270 280 290 300 GNQGLPPPGL TISNSCPANL PNIKRELTAC IFPTESEARA LAKERQKKDN HNLIERRRRF 310 320 330 340 350 360 NINDRIKELG TLIPKSNDPD MRWNKGTILK ASVDYIRKLQ REQQRAKELE NRQKKLEHAN 370 380 390 400 410 420 RHLLLRIQEL EMQARAHGLS LIPSTGLCSP DLVNRIIKQE PVLENCSQDL LQHHADLTCT 430 440 450 460 470 480 TTLDLTDGTI TFNNNLGTGT EANQAYSVPT KMGSKLEDIL MDDTLSPVGV TDPLLSSVSP 490 500 GASKTSSRRS SMSMEETEHT C
	Isoform B2 [UniParc]. Checksum: 8D10FAE2E7A855FD	FASTA	495	55,405
	10 20 30 40 50 60 MLYAFWFSHS SSAEHPGASK PPISSSSMTS RILLRQQLMR EQMQEQERRE QQQKLQAAQF 70 80 90 100 110 120 MQQRVPVSQT PAINVSVPTT LPSATQVPME VLKVQTHLEN PTKYHIQQAQ RQQVKQYLST 130 140 150 160 170 180 TLANKHANQV LSLPCPNQPG DHVMPPVPGS SAPNSPMAML TLNSNCEKEG FYKFEEQNRA 190 200 210 220 230 240 ESECPGMNTH SRASCMQMDD VIDDIISLES SYNEEILGLM DPALQMANTL PVSGNLIDLY 250 260 270 280 290 300 GNQGLPPPGL TISNSCPANL PNIKRELTES EARALAKERQ KKDNHNLIER RRRFNINDRI 310 320 330 340 350 360 KELGTLIPKS NDPDMRWNKG TILKASVDYI RKLQREQQRA KELENRQKKL EHANRHLLLR 370 380 390 400 410 420 IQELEMQARA HGLSLIPSTG LCSPDLVNRI IKQEPVLENC SQDLLQHHAD LTCTTTLDLT 430 440 450 460 470 480 DGTITFNNNL GTGTEANQAY SVPTKMGSKL EDILMDDTLS PVGVTDPLLS SVSPGASKTS 490 SRRSSMSMEE TEHTC
	Isoform C1 [UniParc]. Checksum: E9976026708CA76E	FASTA	525	58,664
	10 20 30 40 50 60 MGHLENTSVV FPRAIFSLCE KETRKLTLCL FSRSSSAEHP GASKPPISSS SMTSRILLRQ 70 80 90 100 110 120 QLMREQMQEQ ERREQQQKLQ AAQFMQQRVP VSQTPAINVS VPTTLPSATQ VPMEVLKVQT 130 140 150 160 170 180 HLENPTKYHI QQAQRQQVKQ YLSTTLANKH ANQVLSLPCP NQPGDHVMPP VPGSSAPNSP 190 200 210 220 230 240 MAMLTLNSNC EKEGFYKFEE QNRAESECPG MNTHSRASCM QMDDVIDDII SLESSYNEEI 250 260 270 280 290 300 LGLMDPALQM ANTLPVSGNL IDLYGNQGLP PPGLTISNSC PANLPNIKRE LTACIFPTES 310 320 330 340 350 360 EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS NDPDMRWNKG TILKASVDYI 370 380 390 400 410 420 RKLQREQQRA KELENRQKKL EHANRHLLLR IQELEMQARA HGLSLIPSTG LCSPDLVNRI 430 440 450 460 470 480 IKQEPVLENC SQDLLQHHAD LTCTTTLDLT DGTITFNNNL GTGTEANQAY SVPTKMGSKL 490 500 510 520 EDILMDDTLS PVGVTDPLLS SVSPGASKTS SRRSSMSMEE TEHTC
	Isoform C2 [UniParc]. Checksum: 90083765F3F0AA7C	FASTA	519	58,031
	10 20 30 40 50 60 MGHLENTSVV FPRAIFSLCE KETRKLTLCL FSRSSSAEHP GASKPPISSS SMTSRILLRQ 70 80 90 100 110 120 QLMREQMQEQ ERREQQQKLQ AAQFMQQRVP VSQTPAINVS VPTTLPSATQ VPMEVLKVQT 130 140 150 160 170 180 HLENPTKYHI QQAQRQQVKQ YLSTTLANKH ANQVLSLPCP NQPGDHVMPP VPGSSAPNSP 190 200 210 220 230 240 MAMLTLNSNC EKEGFYKFEE QNRAESECPG MNTHSRASCM QMDDVIDDII SLESSYNEEI 250 260 270 280 290 300 LGLMDPALQM ANTLPVSGNL IDLYGNQGLP PPGLTISNSC PANLPNIKRE LTESEARALA 310 320 330 340 350 360 KERQKKDNHN LIERRRRFNI NDRIKELGTL IPKSNDPDMR WNKGTILKAS VDYIRKLQRE 370 380 390 400 410 420 QQRAKELENR QKKLEHANRH LLLRIQELEM QARAHGLSLI PSTGLCSPDL VNRIIKQEPV 430 440 450 460 470 480 LENCSQDLLQ HHADLTCTTT LDLTDGTITF NNNLGTGTEA NQAYSVPTKM GSKLEDILMD 490 500 510 DTLSPVGVTD PLLSSVSPGA SKTSSRRSSM SMEETEHTC
	Isoform H1 [UniParc]. Checksum: 19568959E6CBC288	FASTA	510	57,045
	10 20 30 40 50 60 MEALRVQMFM PCSFESLYLS SAEHPGASKP PISSSSMTSR ILLRQQLMRE QMQEQERREQ 70 80 90 100 110 120 QQKLQAAQFM QQRVPVSQTP AINVSVPTTL PSATQVPMEV LKVQTHLENP TKYHIQQAQR 130 140 150 160 170 180 QQVKQYLSTT LANKHANQVL SLPCPNQPGD HVMPPVPGSS APNSPMAMLT LNSNCEKEGF 190 200 210 220 230 240 YKFEEQNRAE SECPGMNTHS RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP 250 260 270 280 290 300 VSGNLIDLYG NQGLPPPGLT ISNSCPANLP NIKRELTACI FPTESEARAL AKERQKKDNH 310 320 330 340 350 360 NLIERRRRFN INDRIKELGT LIPKSNDPDM RWNKGTILKA SVDYIRKLQR EQQRAKELEN 370 380 390 400 410 420 RQKKLEHANR HLLLRIQELE MQARAHGLSL IPSTGLCSPD LVNRIIKQEP VLENCSQDLL 430 440 450 460 470 480 QHHADLTCTT TLDLTDGTIT FNNNLGTGTE ANQAYSVPTK MGSKLEDILM DDTLSPVGVT 490 500 510 DPLLSSVSPG ASKTSSRRSS MSMEETEHTC
	Isoform H2 [UniParc]. Checksum: B5EE812DB5750430	FASTA	504	56,412
	10 20 30 40 50 60 MEALRVQMFM PCSFESLYLS SAEHPGASKP PISSSSMTSR ILLRQQLMRE QMQEQERREQ 70 80 90 100 110 120 QQKLQAAQFM QQRVPVSQTP AINVSVPTTL PSATQVPMEV LKVQTHLENP TKYHIQQAQR 130 140 150 160 170 180 QQVKQYLSTT LANKHANQVL SLPCPNQPGD HVMPPVPGSS APNSPMAMLT LNSNCEKEGF 190 200 210 220 230 240 YKFEEQNRAE SECPGMNTHS RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP 250 260 270 280 290 300 VSGNLIDLYG NQGLPPPGLT ISNSCPANLP NIKRELTESE ARALAKERQK KDNHNLIERR 310 320 330 340 350 360 RRFNINDRIK ELGTLIPKSN DPDMRWNKGT ILKASVDYIR KLQREQQRAK ELENRQKKLE 370 380 390 400 410 420 HANRHLLLRI QELEMQARAH GLSLIPSTGL CSPDLVNRII KQEPVLENCS QDLLQHHADL 430 440 450 460 470 480 TCTTTLDLTD GTITFNNNLG TGTEANQAYS VPTKMGSKLE DILMDDTLSP VGVTDPLLSS 490 500 VSPGASKTSS RRSSMSMEET EHTC
	Isoform M1 [UniParc]. Checksum: 81B2DAF59F3C26D8	FASTA	419	46,938
	10 20 30 40 50 60 MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QVKQYLSTTL ANKHANQVLS LPCPNQPGDH 70 80 90 100 110 120 VMPPVPGSSA PNSPMAMLTL NSNCEKEGFY KFEEQNRAES ECPGMNTHSR ASCMQMDDVI 130 140 150 160 170 180 DDIISLESSY NEEILGLMDP ALQMANTLPV SGNLIDLYGN QGLPPPGLTI SNSCPANLPN 190 200 210 220 230 240 IKRELTACIF PTESEARALA KERQKKDNHN LIERRRRFNI NDRIKELGTL IPKSNDPDMR 250 260 270 280 290 300 WNKGTILKAS VDYIRKLQRE QQRAKELENR QKKLEHANRH LLLRIQELEM QARAHGLSLI 310 320 330 340 350 360 PSTGLCSPDL VNRIIKQEPV LENCSQDLLQ HHADLTCTTT LDLTDGTITF NNNLGTGTEA 370 380 390 400 410 NQAYSVPTKM GSKLEDILMD DTLSPVGVTD PLLSSVSPGA SKTSSRRSSM SMEETEHTC
	Isoform M2 [UniParc]. Checksum: D1BE704770F24258	FASTA	413	46,305
	10 20 30 40 50 60 MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QVKQYLSTTL ANKHANQVLS LPCPNQPGDH 70 80 90 100 110 120 VMPPVPGSSA PNSPMAMLTL NSNCEKEGFY KFEEQNRAES ECPGMNTHSR ASCMQMDDVI 130 140 150 160 170 180 DDIISLESSY NEEILGLMDP ALQMANTLPV SGNLIDLYGN QGLPPPGLTI SNSCPANLPN 190 200 210 220 230 240 IKRELTESEA RALAKERQKK DNHNLIERRR RFNINDRIKE LGTLIPKSND PDMRWNKGTI 250 260 270 280 290 300 LKASVDYIRK LQREQQRAKE LENRQKKLEH ANRHLLLRIQ ELEMQARAHG LSLIPSTGLC 310 320 330 340 350 360 SPDLVNRIIK QEPVLENCSQ DLLQHHADLT CTTTLDLTDG TITFNNNLGT GTEANQAYSV 370 380 390 400 410 PTKMGSKLED ILMDDTLSPV GVTDPLLSSV SPGASKTSSR RSSMSMEETE HTC

References

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[1]	"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: 9647758] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A2), NUCLEOTIDE SEQUENCE [MRNA] OF 1-35 (ISOFORMS H1/H2). Tissue: Kidney.
[2]	"Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3." Tachibana M., Perez-Jurado L.A., Nakayama A., Hodgkinson C.A., Li X., Schneider M., Miki T., Fex J., Francke U., Arnheiter H. Hum. Mol. Genet. 3:553-557(1994) [PubMed: 8069297] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM M1). Tissue: Skin.
[3]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A2). Tissue: Uterus.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS M1 AND M2). Tissue: Skin.
[5]	"Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters." Udono T., Yasumoto K., Takeda K., Amae S., Watanabe K., Saito H., Fuse N., Tachibana M., Takahashi K., Tamai M., Shibahara S. Biochim. Biophys. Acta 1491:205-219(2000) [PubMed: 10760582] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS A1/A2; B1/B2; H1/H2 AND M1/M2).
[6]	"Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus." Fuse N., Yasumoto K., Takeda K., Amae S., Yoshizawa M., Udono T., Takahashi K., Tamai M., Tomita Y., Tachibana M., Shibahara S. J. Biochem. 126:1043-1051(1999) [PubMed: 10578055] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM C1/C2). Tissue: Kidney.
[7]	"Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance." Takeda K., Takemoto C., Kobayashi I., Watanabe A., Nobukuni Y., Fisher D.E., Tachibana M. Hum. Mol. Genet. 9:125-132(2000) [PubMed: 10587587] [Abstract] Cited for: MUTAGENESIS OF SER-405, PHOSPHORYLATION AT SER-405.
[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: 14975237] [Abstract] Cited for: INTERACTION WITH KARS.
[9]	"Sumoylation of MITF and its related family members TFE3 and TFEB." Miller A.J., Levy C., Davis I.J., Razin E., Fisher D.E. J. Biol. Chem. 280:146-155(2005) [PubMed: 15507434] [Abstract] Cited for: SUMOYLATION AT LYS-289 AND LYS-423, MUTAGENESIS OF LYS-289 AND LYS-423.
[10]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-54, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"The mutational spectrum in Waardenburg syndrome." Tassabehji M., Newton V.E., Liu X.-Z., Brady A., Donnai D., Krajewska-Walasek M., Murday V., Norman A., Obersztyn E., Reardon W., Rice J.C., Trembath R., Wieacker P., Whiteford M., Winter R., Read A.P. Hum. Mol. Genet. 4:2131-2137(1995) [PubMed: 8589691] [Abstract] Cited for: VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405.
[14]	"Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF." Smith S.D., Kelley P.M., Kenyon J.B., Hoover D. J. Med. Genet. 37:446-448(2000) [PubMed: 10851256] [Abstract] Cited for: VARIANT TIETZS LYS-317. Tissue: Blood.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB006909 mRNA. Translation: BAA32288.1. AB006989 mRNA. No translation available. Z29678 mRNA. Translation: CAA82775.1. AL110195 mRNA. Translation: CAB53672.1. BC026961 mRNA. Translation: AAH26961.1. BC065243 mRNA. Translation: AAH65243.1. AF034755 Genomic DNA. Translation: AAC39639.1. AB032359 Genomic DNA. Translation: BAA95208.1. AB032358 Genomic DNA. Translation: BAA95207.1. AB032357 Genomic DNA. Translation: BAA95206.1. AB009608 Genomic DNA. Translation: BAA95209.1. Different termination.
IPI	IPI00023896. IPI00215772. IPI00217203. IPI00217204. IPI00217206. IPI00217209. IPI00217210. IPI00217211. IPI00217212. IPI00293035.
PIR	I38024. T14752.
RefSeq	NP_000239.1. NM_000248.3. NP_001171896.1. NM_001184967.1. NP_006713.1. NM_006722.2. NP_937801.1. NM_198158.2. NP_937802.1. NM_198159.2. NP_937820.1. NM_198177.2.
UniGene	Hs.166017. Hs.618266.
3D structure databases
ProteinModelPortal	O75030.
SMR	O75030. Positions 309-373.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75030. 3 interactions.
STRING	O75030.
PTM databases
PhosphoSite	O75030.
Proteomic databases
PRIDE	O75030.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000448226; ENSP00000391803; ENSG00000187098.
GeneID	4286.
KEGG	hsa:4286.
UCSC	uc003dnz.1. human. uc003doa.1. human. uc003dob.1. human. uc003dod.1. human. uc003doe.1. human. uc003dof.1. human.
Organism-specific databases
CTD	4286.
GeneCards	GC03P069871.
HGNC	HGNC:7105. MITF.
HPA	CAB002578. HPA003259.
MIM	103470. phenotype. 103500. phenotype. 156845. gene. 193510. phenotype.
neXtProt	NX_O75030.
Orphanet	42665. Tietz syndrome. 895. Waardenburg syndrome type 2.
PharmGKB	PA30823.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09118.
GeneTree	ENSGT00390000004402.
HOGENOM	HBG716774.
HOVERGEN	HBG006768.
InParanoid	O75030.
OMA	ENCNQDL.
PhylomeDB	O75030.
Enzyme and pathway databases
Pathway_Interaction_DB	il6_7pathway. IL6-mediated signaling events. kitpathway. Signaling events mediated by Stem cell factor receptor (c-Kit). p38alphabetadownstreampathway. Signaling mediated by p38-alpha and p38-beta.
Gene expression databases
ArrayExpress	O75030.
Bgee	O75030.
CleanEx	HS_MITF.
Genevestigator	O75030.
GermOnline	ENSG00000187098. Homo sapiens.
Family and domain databases
InterPro	IPR024097. bHLH_ZIP_TF. IPR021802. bHLH_ZIP_TF_MiT/TFE. IPR011598. HLH_DNA-bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
KO	K09455.
PANTHER	PTHR10014. PTHR10014. 1 hit.
Pfam	PF11851. DUF3371. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	16861.
PMAP-CutDB	O75030.
SOURCE	Search...

Entry information

Entry name

MITF_HUMAN

Accession

Primary (citable) accession number: O75030
Secondary accession number(s): Q14841 , Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	February 21, 2001
Last modified:	December 14, 2011
This is version 123 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.