MAF
Transcription factor Maf
Also known as: c-MAF, MAF_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75444
- Gene
- MAF
- Ensembl
- ENSG00000178573
- Chromosome
- 16
- Canonical length
- 373 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies,Golgi apparatus,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Canonical amino-acid sequenceUniProt
373 residues, UniProt reviewed canonical sequence.
>O75444|MAF
1 MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI AGGSLSSTPM
61 STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ LNPEALGFSP EDAVEALISN
121 SHQLQGGFDG YARGAQQLAA AAGAGAGASL GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH
181 YHHHHHHAAG HHHHPTAGAP GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA
241 GAGGALHPHH AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG
301 YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK LVSSGFRENG
361 SSSDNPSSPE FFMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAF 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 78 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 78 nTPM
- duodenum: 66 nTPM
- skin: 55 nTPM
- parathyroid gland: 48 nTPM
- skeletal muscle: 46 nTPM
- kidney: 45 nTPM
Single-cell type
- kupffer cells: 904 nCPM
- hofbauer cells: 630 nCPM
- microglia: 513 nCPM
- lymphatic endothelial cells: 375 nCPM
- macrophages: 355 nCPM
- enterocytes: 301 nCPM
Immune cell
- basophil: 38 nTPM
- MAIT T-cell: 8.6 nTPM
- T-reg: 4.7 nTPM
- memory CD4 T-cell: 3.2 nTPM
- memory CD8 T-cell: 2.7 nTPM
- gdT-cell: 1.1 nTPM
Brain region
- white matter: 78 nTPM
- thalamus: 76 nTPM
- midbrain: 63 nTPM
- medulla oblongata: 57 nTPM
- spinal cord: 56 nTPM
- cerebral cortex: 48 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MAF.
Disease | AllUniProt
Conditions MAF is implicated in, by any mechanism.
- Cataract 21, multiple types (CTRCT21) MIM:610202
- Ayme-Gripp syndrome (AYGRP) MIM:601088
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 248 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ayme-Gripp syndrome
- Cataract 21 multiple types
- Developmental cataract
- MAF-related disorder
- Inborn genetic diseases
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)
- 0.54
- gnomAD pLI
- 0.74
- gnomAD missense Z
- 1.18
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- in utero embryonic development
- inner ear development
- integrated stress response signaling
- lens fiber cell differentiation
- megakaryocyte differentiation
- negative regulation of transcription by RNA polymerase II
- positive regulation of gene expression
- regulation of chondrocyte differentiation
- regulation of transcription by RNA polymerase II
- response to nutrient
- transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- identical protein binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAF 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 MAF as an antibody target. Whether an autoantibody or antibody against MAF could matter depends on whether native MAF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAF 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 MAF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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