Seroatlas · Human Serome Atlas

MITF

Microphthalmia-associated transcription factor

Also known as: bHLHe32, MI, MITF_HUMAN, WS2, WS2A

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O75030
Gene
MITF
Ensembl
ENSG00000187098
Chromosome
3
Canonical length
526 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

526 residues, UniProt reviewed canonical sequence.

>O75030|MITF
     1  MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR
    61  QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ
   121  THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS
   181  PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE
   241  ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE
   301  SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY
   361  IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR AHGLSLIPST GLCSPDLVNR
   421  IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL TDGTITFNNN LGTGTEANQA YSVPTKMGSK
   481  LEDILMDDTL SPVGVTDPLL SSVSPGASKT SSRRSSMSME ETEHTC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MITF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.62
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • cervix: 48 nTPM
  • skeletal muscle: 46 nTPM
  • endometrium: 44 nTPM
  • smooth muscle: 43 nTPM
  • tongue: 40 nTPM
  • heart muscle: 29 nTPM

Single-cell type

  • melanocytes: 2,101 nCPM
  • cardiomyocytes: 931 nCPM
  • distal convoluted tubule cells: 815 nCPM
  • retinal pigment epithelial cells: 584 nCPM
  • myonuclei: 577 nCPM
  • endometrial glandular cells: 560 nCPM

Immune cell

  • classical monocyte: 10 nTPM
  • myeloid DC: 6.5 nTPM
  • non-classical monocyte: 6 nTPM
  • basophil: 5.9 nTPM
  • intermediate monocyte: 3.6 nTPM
  • total PBMC: 3.2 nTPM

Brain region

  • choroid plexus: 47 nTPM
  • white matter: 29 nTPM
  • medulla oblongata: 28 nTPM
  • thalamus: 23 nTPM
  • midbrain: 22 nTPM
  • hypothalamus: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MITF.

Disease | AllUniProt

Conditions MITF is implicated in, by any mechanism.

  • Waardenburg syndrome 2A (WS2A) MIM:193510
  • Tietz albinism-deafness syndrome (TADS) MIM:103500
  • Melanoma, cutaneous malignant 8 (CMM8) MIM:614456
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) MIM:617306

Disease | GeneticClinVar

139 pathogenic / likely-pathogenic of 1,329 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Waardenburg syndrome type 2A
  • Tietz syndrome
  • Melanoma, cutaneous malignant, susceptibility to, 8
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
  • Rare genetic deafness

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.31
gnomAD pLI
0.98
gnomAD missense Z
1.47
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MITF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MITF as an antibody target. Whether an autoantibody or antibody against MITF could matter depends on whether native MITF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MITF is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MITF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MITF. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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