UniProtKB - O75444 (MAF_HUMAN)
Transcription factor Maf
MAF
Functioni
Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity).
When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.
By similarity5 PublicationsGO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- identical protein binding Source: IntAct
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- cell development Source: Ensembl
- inner ear development Source: Ensembl
- lens fiber cell differentiation Source: GO_Central
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- positive regulation of gene expression Source: Ensembl
- regulation of chondrocyte differentiation Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O75444 |
Reactomei | R-HSA-8940973, RUNX2 regulates osteoblast differentiation |
SignaLinki | O75444 |
SIGNORi | O75444 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor MafAlternative name(s): Proto-oncogene c-Maf V-maf musculoaponeurotic fibrosarcoma oncogene homolog |
Gene namesi | Name:MAF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6776, MAF |
MIMi | 177075, gene |
neXtProti | NX_O75444 |
VEuPathDBi | HostDB:ENSG00000178573 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleus Source: GO_Central
- RNA polymerase II transcription regulator complex Source: ComplexPortal
Other locations
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cataract 21, multiple types (CTRCT21)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029369 | 288 | R → P in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917735EnsemblClinVar. | 1 | |
Natural variantiVAR_029370 | 297 | K → R in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917736EnsemblClinVar. | 1 | |
Natural variantiVAR_073898 | 303 | Q → L in CTRCT21. 1 Publication | 1 | |
Natural variantiVAR_084822 | 317 | E → G in CTRCT21; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084823 | 320 | K → E in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs1435247084Ensembl. | 1 |
Ayme-Gripp syndrome (AYGRP)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073891 | 54 | S → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502766EnsemblClinVar. | 1 | |
Natural variantiVAR_073892 | 58 | T → A in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502767EnsemblClinVar. | 1 | |
Natural variantiVAR_073893 | 58 | T → I in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502769EnsemblClinVar. | 1 | |
Natural variantiVAR_073894 | 59 | P → H in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar. | 1 | |
Natural variantiVAR_073895 | 59 | P → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar. | 1 | |
Natural variantiVAR_073896 | 62 | T → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502771EnsemblClinVar. | 1 | |
Natural variantiVAR_073897 | 69 | P → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502768EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Deafness, Disease variant, Dwarfism, Mental retardation, Proto-oncogene, Tumor suppressorOrganism-specific databases
DisGeNETi | 4094 |
GeneReviewsi | MAF |
MalaCardsi | MAF |
MIMi | 601088, phenotype 610202, phenotype |
NIAGADSi | ENSG00000178573 |
OpenTargetsi | ENSG00000178573 |
Orphaneti | 1272, Ayme-Gripp syndrome 1377, Cataract-microcornea syndrome 98989, Cerulean cataract 98984, Pulverulent cataract |
PharmGKBi | PA30534 |
Miscellaneous databases
Pharosi | O75444, Tbio |
Genetic variation databases
BioMutai | MAF |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000076491 | 1 – 373 | Transcription factor MafAdd BLAST | 373 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Cross-linki | 29 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Cross-linki | 33 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Cross-linki | 331 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Isoform 1 (identifier: O75444-1) | |||||
Cross-linki | 379 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
MassIVEi | O75444 |
PaxDbi | O75444 |
PeptideAtlasi | O75444 |
PRIDEi | O75444 |
PTM databases
iPTMneti | O75444 |
PhosphoSitePlusi | O75444 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000178573, Expressed in jejunal mucosa and 252 other tissues |
ExpressionAtlasi | O75444, baseline and differential |
Genevisiblei | O75444, HS |
Organism-specific databases
HPAi | ENSG00000178573, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or as a heterodimer. Heterotetramer of two MAF and two USF2.
Interacts with PAX6; the interaction is direct.
Interacts with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through the TCR engagement.
Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in response to differentiating signals.
Interacts with USF2; the interaction inhibits its DNA-binding activity on the L7 promoter.
Interacts with CREBBP, EP300 and ETS1 (By similarity).
By similarityBinary interactionsi
O75444
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 110269, 57 interactors |
ComplexPortali | CPX-6566, bZIP transcription factor complex, ATF4-MAF |
ELMi | O75444 |
IntActi | O75444, 8 interactors |
STRINGi | 9606.ENSP00000327048 |
Miscellaneous databases
RNActi | O75444, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 288 – 351 | bZIPPROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 57 – 84 | DisorderedSequence analysisAdd BLAST | 28 | |
Regioni | 126 – 373 | Represses ARE-mediated transcriptionAdd BLAST | 248 | |
Regioni | 175 – 222 | DisorderedSequence analysisAdd BLAST | 48 | |
Regioni | 288 – 313 | Basic motifPROSITE-ProRule annotationAdd BLAST | 26 | |
Regioni | 316 – 337 | Leucine-zipperPROSITE-ProRule annotationAdd BLAST | 22 | |
Regioni | 354 – 373 | DisorderedSequence analysisAdd BLAST | 20 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 179 – 193 | Basic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 355 – 373 | Polar residuesSequence analysisAdd BLAST | 19 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4196, Eukaryota |
GeneTreei | ENSGT00940000161531 |
HOGENOMi | CLU_063062_0_0_1 |
InParanoidi | O75444 |
OMAi | MRLDERF |
OrthoDBi | 1395389at2759 |
PhylomeDBi | O75444 |
TreeFami | TF325689 |
Family and domain databases
InterProi | View protein in InterPro IPR004827, bZIP IPR004826, bZIP_Maf IPR028573, Maf/V-MAF IPR013592, Maf_TF_N IPR008917, TF_DNA-bd_sf IPR024874, Transcription_factor_Maf_fam |
PANTHERi | PTHR10129, PTHR10129, 1 hit PTHR10129:SF9, PTHR10129:SF9, 1 hit |
Pfami | View protein in Pfam PF03131, bZIP_Maf, 1 hit PF08383, Maf_N, 1 hit |
SMARTi | View protein in SMART SM00338, BRLZ, 1 hit |
SUPFAMi | SSF47454, SSF47454, 1 hit |
PROSITEi | View protein in PROSITE PS50217, BZIP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI
60 70 80 90 100
AGGSLSSTPM STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ
110 120 130 140 150
LNPEALGFSP EDAVEALISN SHQLQGGFDG YARGAQQLAA AAGAGAGASL
160 170 180 190 200
GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH YHHHHHHAAG HHHHPTAGAP
210 220 230 240 250
GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA GAGGALHPHH
260 270 280 290 300
AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG
310 320 330 340 350
YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK
360 370
LVSSGFRENG SSSDNPSSPE FFM
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH3BP11 | H3BP11_HUMAN | Transcription factor Maf | MAF | 383 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073891 | 54 | S → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502766EnsemblClinVar. | 1 | |
Natural variantiVAR_073892 | 58 | T → A in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502767EnsemblClinVar. | 1 | |
Natural variantiVAR_073893 | 58 | T → I in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502769EnsemblClinVar. | 1 | |
Natural variantiVAR_073894 | 59 | P → H in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar. | 1 | |
Natural variantiVAR_073895 | 59 | P → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar. | 1 | |
Natural variantiVAR_073896 | 62 | T → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502771EnsemblClinVar. | 1 | |
Natural variantiVAR_073897 | 69 | P → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502768EnsemblClinVar. | 1 | |
Natural variantiVAR_029369 | 288 | R → P in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917735EnsemblClinVar. | 1 | |
Natural variantiVAR_029370 | 297 | K → R in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917736EnsemblClinVar. | 1 | |
Natural variantiVAR_073898 | 303 | Q → L in CTRCT21. 1 Publication | 1 | |
Natural variantiVAR_084822 | 317 | E → G in CTRCT21; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084823 | 320 | K → E in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs1435247084Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000583 | 373 | M → ITEPTRKLEPSVGYATFWKP QHRVLTSVFTK in isoform 1. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF055376 mRNA Translation: AAC27037.1 AF055377 mRNA Translation: AAC27038.1 AF055378 Genomic DNA Translation: AAC27039.1 AC009159 Genomic DNA No translation available. BC081542 mRNA Translation: AAH81542.1 |
CCDSi | CCDS10928.1 [O75444-1] CCDS42198.1 [O75444-2] |
RefSeqi | NP_001026974.1, NM_001031804.2 [O75444-2] NP_005351.2, NM_005360.4 [O75444-1] |
Genome annotation databases
Ensembli | ENST00000326043; ENSP00000327048; ENSG00000178573 [O75444-1] ENST00000393350; ENSP00000377019; ENSG00000178573 |
GeneIDi | 4094 |
KEGGi | hsa:4094 |
MANE-Selecti | ENST00000326043.5; ENSP00000327048.4; NM_005360.5; NP_005351.2 [O75444-1] |
UCSCi | uc002ffm.4, human [O75444-2] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF055376 mRNA Translation: AAC27037.1 AF055377 mRNA Translation: AAC27038.1 AF055378 Genomic DNA Translation: AAC27039.1 AC009159 Genomic DNA No translation available. BC081542 mRNA Translation: AAH81542.1 |
CCDSi | CCDS10928.1 [O75444-1] CCDS42198.1 [O75444-2] |
RefSeqi | NP_001026974.1, NM_001031804.2 [O75444-2] NP_005351.2, NM_005360.4 [O75444-1] |
3D structure databases
SMRi | O75444 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110269, 57 interactors |
ComplexPortali | CPX-6566, bZIP transcription factor complex, ATF4-MAF |
ELMi | O75444 |
IntActi | O75444, 8 interactors |
STRINGi | 9606.ENSP00000327048 |
PTM databases
iPTMneti | O75444 |
PhosphoSitePlusi | O75444 |
Genetic variation databases
BioMutai | MAF |
Proteomic databases
MassIVEi | O75444 |
PaxDbi | O75444 |
PeptideAtlasi | O75444 |
PRIDEi | O75444 |
Protocols and materials databases
Antibodypediai | 4143, 497 antibodies from 39 providers |
DNASUi | 4094 |
Genome annotation databases
Ensembli | ENST00000326043; ENSP00000327048; ENSG00000178573 [O75444-1] ENST00000393350; ENSP00000377019; ENSG00000178573 |
GeneIDi | 4094 |
KEGGi | hsa:4094 |
MANE-Selecti | ENST00000326043.5; ENSP00000327048.4; NM_005360.5; NP_005351.2 [O75444-1] |
UCSCi | uc002ffm.4, human [O75444-2] |
Organism-specific databases
CTDi | 4094 |
DisGeNETi | 4094 |
GeneCardsi | MAF |
GeneReviewsi | MAF |
HGNCi | HGNC:6776, MAF |
HPAi | ENSG00000178573, Low tissue specificity |
MalaCardsi | MAF |
MIMi | 177075, gene 601088, phenotype 610202, phenotype |
neXtProti | NX_O75444 |
NIAGADSi | ENSG00000178573 |
OpenTargetsi | ENSG00000178573 |
Orphaneti | 1272, Ayme-Gripp syndrome 1377, Cataract-microcornea syndrome 98989, Cerulean cataract 98984, Pulverulent cataract |
PharmGKBi | PA30534 |
VEuPathDBi | HostDB:ENSG00000178573 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4196, Eukaryota |
GeneTreei | ENSGT00940000161531 |
HOGENOMi | CLU_063062_0_0_1 |
InParanoidi | O75444 |
OMAi | MRLDERF |
OrthoDBi | 1395389at2759 |
PhylomeDBi | O75444 |
TreeFami | TF325689 |
Enzyme and pathway databases
PathwayCommonsi | O75444 |
Reactomei | R-HSA-8940973, RUNX2 regulates osteoblast differentiation |
SignaLinki | O75444 |
SIGNORi | O75444 |
Miscellaneous databases
BioGRID-ORCSi | 4094, 17 hits in 1062 CRISPR screens |
ChiTaRSi | MAF, human |
GeneWikii | MAF_(gene) |
GenomeRNAii | 4094 |
Pharosi | O75444, Tbio |
PROi | PR:O75444 |
RNActi | O75444, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178573, Expressed in jejunal mucosa and 252 other tissues |
ExpressionAtlasi | O75444, baseline and differential |
Genevisiblei | O75444, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004827, bZIP IPR004826, bZIP_Maf IPR028573, Maf/V-MAF IPR013592, Maf_TF_N IPR008917, TF_DNA-bd_sf IPR024874, Transcription_factor_Maf_fam |
PANTHERi | PTHR10129, PTHR10129, 1 hit PTHR10129:SF9, PTHR10129:SF9, 1 hit |
Pfami | View protein in Pfam PF03131, bZIP_Maf, 1 hit PF08383, Maf_N, 1 hit |
SMARTi | View protein in SMART SM00338, BRLZ, 1 hit |
SUPFAMi | SSF47454, SSF47454, 1 hit |
PROSITEi | View protein in PROSITE PS50217, BZIP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MAF_HUMAN | |
Accessioni | O75444Primary (citable) accession number: O75444 Secondary accession number(s): Q66I47, Q9UP93 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2002 |
Last sequence update: | February 10, 2009 | |
Last modified: | February 23, 2022 | |
This is version 180 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families