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MITF melanogenesis associated transcription factor [ Homo sapiens (human) ]

Gene ID: 4286, updated on 23-Sep-2018

Summary

Official Symbol
MITFprovided by HGNC
Official Full Name
melanogenesis associated transcription factorprovided by HGNC
Primary source
HGNC:HGNC:7105
See related
Ensembl:ENSG00000187098 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; COMMAD; 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

Genomic context

See MITF in Genome Data Viewer
Location:
3p13
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 H1 histone family member O oocyte specific pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 231 Neighboring gene MITF-A promoter region Neighboring gene RNA, 7SL, cytoplasmic 418, pseudogene Neighboring gene MITF-H promoter region Neighboring gene MITF-M distal enhancer (MDE) Neighboring gene MITF-M promoter region Neighboring gene survival associated mitochondrial melanoma specific oncogenic non-coding RNA Neighboring gene RNA binding region (RNP1, RRM) containing 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Albinism, ocular, with sensorineural deafness
MedGen: C1863198 OMIM: 103470 GeneReviews: Not available
Compare labs
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MedGen: C4310625 OMIM: 617306 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

Pathways from BioSystems

  • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL6-mediated signaling events, organism-specific biosystem
    IL6-mediated signaling events
  • Kit receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Kit receptor signaling pathway, organism-specific biosystemKit is a cytokine receptor that belongs to the type III receptor tyrosine kinase family. It is structurally similar to platelet-derived growth factor recpetors (PDGFRs), colony stimulating factor-1 r...
  • Melanogenesis, organism-specific biosystem (from KEGG)
    Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanogenesis, conserved biosystem (from KEGG)
    Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway, organism-specific biosystem (from WikiPathways)
    RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway, organism-specific biosystemRANKL (Receptor activator of nuclear factor-kappa B ligand), RANK (Receptor activator of nuclear factor-kappa B) and the natural decoy receptor of RANKL, OPG (Osteoprotegerin) are three important mol...
  • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
  • Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of retinoblastoma protein, organism-specific biosystem
    Regulation of retinoblastoma protein
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of transcription factors, organism-specific biosystem (from REACTOME)
    SUMOylation of transcription factors, organism-specific biosystemProteins classified as transcription factors constitute a disproportionate number of SUMOylation targets. In most cases SUMOylation inhibits transcriptional activation, however in some cases such as ...
  • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
    Signaling events mediated by Stem cell factor receptor (c-Kit)
  • Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
    Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem
    Signaling mediated by p38-alpha and p38-beta

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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-containing 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
microphthalmia-associated transcription factor
Names
class E basic helix-loop-helix protein 32
microphtalmia-associated transcription factor

NCBI Reference Sequences (RefSeq)

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
    Related
    ENSP00000377880.3, OTTHUMP00000195139, ENST00000394351.8, OTTHUMT00000313944
    Conserved Domains (3) 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)
    pfam15951
    Location:1187
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  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
    Related
    ENSP00000418845.1, OTTHUMP00000213867, ENST00000472437.5, OTTHUMT00000352921
    Conserved Domains (3) 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:339458
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  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
    ENSP00000481286.1, OTTHUMP00000274786, ENST00000394348.2, OTTHUMT00000313946
    Conserved Domains (1) summary
    pfam15951
    Location:1188
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  4. NM_001354604.1NP_001341533.1  microphthalmia-associated transcription factor isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC099326, AC104445, AC104449
    Consensus CDS
    CCDS87108.1
    Related
    ENSP00000391803.2, ENST00000448226.7
    Conserved Domains (3) 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:397516
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  5. NM_001354605.1NP_001341534.1  microphthalmia-associated transcription factor isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC099326, AC104445, AC104449
    Conserved Domains (3) 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:396515
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  6. NM_001354606.1NP_001341535.1  microphthalmia-associated transcription factor isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC099326, AC104445, AC104449
    Conserved Domains (3) 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:390509
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  7. NM_001354607.1NP_001341536.1  microphthalmia-associated transcription factor isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC099326, AC104445, AC104449, AC124915
    Conserved Domains (3) summary
    cd00083
    Location:286346
    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:374493
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:39177
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  8. NM_001354608.1NP_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
    Conserved Domains (3) 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:339458
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  9. 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
    ENSP00000327867.6, ENST00000328528.10
    Conserved Domains (3) 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)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  10. 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
    Related
    ENSP00000324246.6, OTTHUMP00000195140, ENST00000314557.10, OTTHUMT00000313945
    Conserved Domains (3) 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:284403
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:1187
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  11. 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
    ENSP00000295600.7, OTTHUMP00000195123, ENST00000352241.8, OTTHUMT00000313920
    Conserved Domains (3) 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)
    pfam15951
    Location:56194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  12. 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/Swiss-Prot
    O75030
    UniProtKB/TrEMBL
    B4DNC7
    Related
    ENSP00000324443.5, OTTHUMP00000213868, ENST00000314589.10, OTTHUMT00000352922
    Conserved Domains (3) 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)
    pfam15951
    Location:40178
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  13. 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
    Related
    ENSP00000435909.1, OTTHUMP00000230787, ENST00000531774.1, OTTHUMT00000385879
    Conserved Domains (3) 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)
    pfam15951
    Location:1131
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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