MAFA

Protein identityUniProt · HPA

UniProt accession

Q8NHW3

Gene

MAFA

Ensembl

ENSG00000182759

Chromosome

8

Canonical length

353 aa

Protein class

Disease related genes, Predicted intracellular proteins, Transcription factors

Quaternary structure

Homodimer

OverviewNCBI Gene

MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

353 residues, UniProt reviewed canonical sequence.

>Q8NHW3|MAFA
     1  MAAELAMGAE LPSSPLAIEY VNDFDLMKFE VKKEPPEAER FCHRLPPGSL SSTPLSTPCS
    61  SVPSSPSFCA PSPGTGGGGG AGGGGGSSQA GGAPGPPSGG PGAVGGTSGK PALEDLYWMS
   121  GYQHHLNPEA LNLTPEDAVE ALIGSGHHGA HHGAHHPAAA AAYEAFRGPG FAGGGGADDM
   181  GAGHHHGAHH AAHHHHAAHH HHHHHHHHGG AGHGGGAGHH VRLEERFSDD QLVSMSVREL
   241  NRQLRGFSKE EVIRLKQKRR TLKNRGYAQS CRFKRVQQRH ILESEKCQLQ SQVEQLKLEV
   301  GRLAKERDLY KEKYEKLAGR GGPGSAGGAG FPREPSPPQA GPGGAKGTAD FFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAFA 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)

0.64

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAFA.

Disease | AllUniProt

Conditions MAFA is implicated in, by any mechanism.

• Insulinomatosis and diabetes mellitus (INSDM) MIM:147630

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Islet cell adenomatosis

Disease | ImmuneIEDB

Conditions an epitope on MAFA was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

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)

1.65

gnomAD pLI

0

gnomAD missense Z

0.61

DepMap mean gene effect

0.03

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

• insulin secretion
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• response to glucose

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Basic leucine zipper domain, Maf-type
• Basic-leucine zipper domain
• Transcription factor, Skn-1-like, DNA-binding domain superfamily
• Maf transcription factor, N-terminal
• Transcription factor Maf family
• Basic-leucine zipper domain superfamily
• bZIP Maf transcription factor
• Maf N-terminal region

KeywordsUniProt

• Activator
• Diabetes mellitus
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

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

• NEUROD1
• PDX1