MAFB
Transcription factor MafB
Also known as: KRML, MAFB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5Q3
- Gene
- MAFB
- Ensembl
- ENSG00000204103
- Chromosome
- 20
- Canonical length
- 323 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli,Golgi apparatus,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
323 residues, UniProt reviewed canonical sequence.
>Q9Y5Q3|MAFB
1 MAAELSMGPE LPTSPLAMEY VNDFDLLKFD VKKEPLGRAE RPGRPCTRLQ PAGSVSSTPL
61 STPCSSVPSS PSFSPTEQKT HLEDLYWMAS NYQQMNPEAL NLTPEDAVEA LIGSHPVPQP
121 LQSFDSFRGA HHHHHHHHPH PHHAYPGAGV AHDELGPHAH PHHHHHHQAS PPPSSAASPA
181 QQLPTSHPGP GPHATASATA AGGNGSVEDR FSDDQLVSMS VRELNRHLRG FTKDEVIRLK
241 QKRRTLKNRG YAQSCRYKRV QQKHHLENEK TQLIQQVEQL KQEVSRLARE RDAYKVKCEK
301 LANSGFREAG STSDSPSSPE FFLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAFB 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)
- 0.62
- Highest tissue expression
- 257 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 257 nTPM
- spleen: 91 nTPM
- skin: 81 nTPM
- bone marrow: 56 nTPM
- thyroid gland: 47 nTPM
- appendix: 35 nTPM
Single-cell type
- kupffer cells: 1,002 nCPM
- monocytes: 652 nCPM
- hofbauer cells: 568 nCPM
- macrophages: 478 nCPM
- breast lactating cells: 312 nCPM
- breast myoepithelial cells: 285 nCPM
Immune cell
- non-classical monocyte: 122 nTPM
- intermediate monocyte: 88 nTPM
- classical monocyte: 24 nTPM
- total PBMC: 11 nTPM
- myeloid DC: 7.9 nTPM
- neutrophil: 2.1 nTPM
Brain region
- white matter: 32 nTPM
- medulla oblongata: 29 nTPM
- thalamus: 26 nTPM
- spinal cord: 19 nTPM
- cerebral cortex: 18 nTPM
- pons: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MAFB.
Disease | AllUniProt
Conditions MAFB is implicated in, by any mechanism.
- Multicentric carpotarsal osteolysis syndrome (MCTO) MIM:166300
- Duane retraction syndrome 3 with or without deafness (DURS3) MIM:617041
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 235 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Duane retraction syndrome 3 with or without deafness
- Duane retraction syndrome 2
- Duane syndrome type 1
- 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)
- 0.4
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 2.17
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- abducens nerve formation
- brain segmentation
- cornified envelope assembly
- fat cell differentiation
- in utero embryonic development
- inner ear morphogenesis
- integrated stress response signaling
- keratinocyte differentiation
- negative regulation of erythrocyte differentiation
- negative regulation of osteoclast differentiation
- negative regulation of transcription by RNA polymerase II
- positive regulation of DNA-templated transcription
- protein processing
- regulation of DNA-templated transcription
- regulation of myeloid cell differentiation
- regulation of transcription by RNA polymerase II
- respiratory gaseous exchange by respiratory system
- response to nutrient
- rhombomere 5 development
- segment specification
- sensory organ development
- T cell differentiation in thymus
- thymus development
- rhombomere 6 development
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- identical protein binding
- protein-containing complex binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAFB 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 MAFB as an antibody target. Whether an autoantibody or antibody against MAFB could matter depends on whether native MAFB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAFB 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 MAFB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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