[Term]
id: PR:000010423
name: microphthalmia-associated transcription factor
def: "A protein that is a translation product of the human MITF gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "Bw" RELATED Gene-based []
synonym: "Mi" RELATED Gene-based []
synonym: "Vit" RELATED Gene-based []
synonym: "MITF" EXACT PRO-short-label [PRO:DNx]
synonym: "BHLHE32" RELATED Gene-based []
synonym: "bHLHe32" EXACT []
synonym: "class E basic helix-loop-helix protein 32" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:000048382
name: microphthalmia-associated transcription factor sumoylated 1 (human)
def: "A microphthalmia-associated transcription factor (human) that has been post-translationally modified to include sumoylated lysine at positions 289 and 423 of the amino acid sequence represented by UniProtKB:O75030. UniProtKB:O75030, Lys-289/Lys-423, MOD:01149." [PRO:DNx, Reactome:R-HSA-3232153]
comment: Category=organism-modification.
synonym: "hMITF/Sumo:1" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O75030, Lys-289/Lys-423, MOD:01149" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3232153 "PR:000048382 located_in GO:0005654"
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: has_part MOD:01149 ! sumoylated lysine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-12
name: microphthalmia-associated transcription factor isoform h12 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-12." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:h12" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-12
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-10
name: microphthalmia-associated transcription factor isoform M2 (human)
def: "A microphthalmia-associated transcription factor isoform 10 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hMITF/iso:M2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-10
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000038306 ! microphthalmia-associated transcription factor isoform 10

[Term]
id: PR:O75030-11
name: microphthalmia-associated transcription factor isoform Mdel (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-11." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:Mdel" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-11
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030
name: microphthalmia-associated transcription factor (human)
def: "A microphthalmia-associated transcription factor that is encoded in the genome of human." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-gene.
synonym: "MITF" RELATED Gene-based [UniProtKB:O75030]
synonym: "hMITF" EXACT PRO-short-label [PRO:DNx]
synonym: "BHLHE32" RELATED Gene-based [UniProtKB:O75030]
synonym: "class E basic helix-loop-helix protein 32 (human)" EXACT [UniProtKB:O75030]
xref: Reactome:R-HSA-201592 "PR:O75030 located_in GO:0005654"
xref: UniProtKB:O75030
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000010423 ! microphthalmia-associated transcription factor
relationship: has_gene_template HGNC:7105 ! MITF (human)

[Term]
id: PR:O75030-8
name: microphthalmia-associated transcription factor isoform hH2 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-8." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hH2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-8
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-9
name: microphthalmia-associated transcription factor isoform M1 (human)
def: "A microphthalmia-associated transcription factor isoform 9 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hMITF/iso:M1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-9
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000038308 ! microphthalmia-associated transcription factor isoform 9

[Term]
id: PR:O75030-1
name: microphthalmia-associated transcription factor isoform A1 (human)
def: "A microphthalmia-associated transcription factor isoform 1 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hMITF/iso:A1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000038305 ! microphthalmia-associated transcription factor isoform 1

[Term]
id: PR:O75030-2
name: microphthalmia-associated transcription factor isoform hA2 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-2." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hA2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-2
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-3
name: microphthalmia-associated transcription factor isoform hB1 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-3." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hB1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-3
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-4
name: microphthalmia-associated transcription factor isoform hB2 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-4." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hB2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-4
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-5
name: microphthalmia-associated transcription factor isoform hC1 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-5." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hC1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-5
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-6
name: microphthalmia-associated transcription factor isoform hC2 (human)
def: "A microphthalmia-associated transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75030-6." [PRO:DNx, UniProtKB:O75030]
comment: Category=organism-sequence.
synonym: "hMITF/iso:hC2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-6
is_a: PR:O75030 ! microphthalmia-associated transcription factor (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O75030-7
name: microphthalmia-associated transcription factor isoform H1 (human)
def: "A microphthalmia-associated transcription factor isoform 7 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hMITF/iso:H1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O75030-7
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000038307 ! microphthalmia-associated transcription factor isoform 7