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Protein

Transcription factor Maf

Gene

MAF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178573-MONOMER.
SignaLinkiO75444.
SIGNORiO75444.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor Maf
Alternative name(s):
Proto-oncogene c-Maf
V-maf musculoaponeurotic fibrosarcoma oncogene homolog
Gene namesi
Name:MAF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:6776. MAF.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • chromatin Source: ProtInc
  • cytoplasm Source: Ensembl
  • nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus.

Cataract 21, multiple types (CTRCT21)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
See also OMIM:610202
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029369288R → P in CTRCT21. 1 PublicationCorresponds to variant rs121917735dbSNPEnsembl.1
Natural variantiVAR_029370297K → R in CTRCT21. 1 PublicationCorresponds to variant rs121917736dbSNPEnsembl.1
Natural variantiVAR_073898303Q → L in CTRCT21. 1 Publication1
Ayme-Gripp syndrome (AYGRP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.
See also OMIM:601088
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07389154S → L in AYGRP. 1 PublicationCorresponds to variant rs727502766dbSNPEnsembl.1
Natural variantiVAR_07389258T → A in AYGRP. 1 PublicationCorresponds to variant rs727502767dbSNPEnsembl.1
Natural variantiVAR_07389358T → I in AYGRP. 1 PublicationCorresponds to variant rs727502769dbSNPEnsembl.1
Natural variantiVAR_07389459P → H in AYGRP. 1 PublicationCorresponds to variant rs727502770dbSNPEnsembl.1
Natural variantiVAR_07389559P → L in AYGRP. 1 PublicationCorresponds to variant rs727502770dbSNPEnsembl.1
Natural variantiVAR_07389662T → R in AYGRP. 1 PublicationCorresponds to variant rs727502771dbSNPEnsembl.1
Natural variantiVAR_07389769P → R in AYGRP. 1 PublicationCorresponds to variant rs727502768dbSNPEnsembl.1

Keywords - Diseasei

Cataract, Disease mutation, Dwarfism, Mental retardation, Proto-oncogene, Tumor suppressor

Organism-specific databases

DisGeNETi4094.
MalaCardsiMAF.
MIMi601088. phenotype.
610202. phenotype.
OpenTargetsiENSG00000178573.
Orphaneti1377. Cataract-microcornea syndrome.
98989. Cerulean cataract.
98984. Pulverulent cataract.
PharmGKBiPA30534.

Polymorphism and mutation databases

BioMutaiMAF.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000764911 – 373Transcription factor MafAdd BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids.1 Publication
Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription.Curated2 Publications

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiO75444.
PeptideAtlasiO75444.
PRIDEiO75444.

PTM databases

iPTMnetiO75444.
PhosphoSitePlusiO75444.

Expressioni

Tissue specificityi

Expressed in endothelial cells.1 Publication

Inductioni

Up-regulated with tert-butyl hydroquinone (t-BHQ).1 Publication

Gene expression databases

BgeeiENSG00000178573.
CleanExiHS_MAF.
ExpressionAtlasiO75444. baseline and differential.
GenevisibleiO75444. HS.

Organism-specific databases

HPAiCAB010296.
HPA028289.

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 similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
BACH1O148672EBI-2805091,EBI-1263541
HBZP0C7462EBI-2805091,EBI-10890294From a different organism.
MAFBQ9Y5Q32EBI-2805091,EBI-3649340

Protein-protein interaction databases

BioGridi110269. 22 interactors.
IntActiO75444. 6 interactors.
STRINGi9606.ENSP00000327048.

Structurei

3D structure databases

ProteinModelPortaliO75444.
SMRiO75444.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini288 – 351bZIPPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni126 – 373Represses ARE-mediated transcriptionAdd BLAST248
Regioni288 – 313Basic motifPROSITE-ProRule annotationAdd BLAST26
Regioni316 – 337Leucine-zipperPROSITE-ProRule annotationAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi126 – 254Gly-richAdd BLAST129
Compositional biasi132 – 252Ala-richAdd BLAST121
Compositional biasi180 – 194His-richAdd BLAST15

Sequence similaritiesi

Belongs to the bZIP family. Maf subfamily.Curated
Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4196. Eukaryota.
ENOG410YCYQ. LUCA.
GeneTreeiENSGT00550000074549.
HOGENOMiHOG000261683.
HOVERGENiHBG000313.
InParanoidiO75444.
KOiK09035.
OMAiLINSSHH.
OrthoDBiEOG091G0H46.
PhylomeDBiO75444.
TreeFamiTF325689.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR028573. Maf/V-MAF.
IPR013592. Maf_TF_N.
IPR008917. TF_DNA-bd.
IPR024874. Transciption_factor_Maf_fam.
[Graphical view]
PANTHERiPTHR10129. PTHR10129. 2 hits.
PTHR10129:SF9. PTHR10129:SF9. 2 hits.
PfamiPF03131. bZIP_Maf. 1 hit.
PF08383. Maf_N. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: O75444-2) [UniParc]FASTAAdd to basket
Also known as: Short

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:373
Mass (Da):38,492
Last modified:February 10, 2009 - v2
Checksum:i566C2BC3E4A62762
GO
Isoform 1 (identifier: O75444-1) [UniParc]FASTAAdd to basket
Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     373-373: M → ITEPTRKLEPSVGYATFWKPQHRVLTSVFTK

Show »
Length:403
Mass (Da):41,961
Checksum:i263D2FF2AF8DFB5B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07389154S → L in AYGRP. 1 PublicationCorresponds to variant rs727502766dbSNPEnsembl.1
Natural variantiVAR_07389258T → A in AYGRP. 1 PublicationCorresponds to variant rs727502767dbSNPEnsembl.1
Natural variantiVAR_07389358T → I in AYGRP. 1 PublicationCorresponds to variant rs727502769dbSNPEnsembl.1
Natural variantiVAR_07389459P → H in AYGRP. 1 PublicationCorresponds to variant rs727502770dbSNPEnsembl.1
Natural variantiVAR_07389559P → L in AYGRP. 1 PublicationCorresponds to variant rs727502770dbSNPEnsembl.1
Natural variantiVAR_07389662T → R in AYGRP. 1 PublicationCorresponds to variant rs727502771dbSNPEnsembl.1
Natural variantiVAR_07389769P → R in AYGRP. 1 PublicationCorresponds to variant rs727502768dbSNPEnsembl.1
Natural variantiVAR_029369288R → P in CTRCT21. 1 PublicationCorresponds to variant rs121917735dbSNPEnsembl.1
Natural variantiVAR_029370297K → R in CTRCT21. 1 PublicationCorresponds to variant rs121917736dbSNPEnsembl.1
Natural variantiVAR_073898303Q → L in CTRCT21. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000583373M → ITEPTRKLEPSVGYATFWKP QHRVLTSVFTK in isoform 1. 1 Publication1

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.
CCDSiCCDS10928.1. [O75444-1]
CCDS42198.1. [O75444-2]
RefSeqiNP_001026974.1. NM_001031804.2. [O75444-2]
NP_005351.2. NM_005360.4. [O75444-1]
UniGeneiHs.134859.

Genome annotation databases

EnsembliENST00000326043; ENSP00000327048; ENSG00000178573. [O75444-1]
ENST00000393350; ENSP00000377019; ENSG00000178573. [O75444-2]
GeneIDi4094.
KEGGihsa:4094.
UCSCiuc002ffm.4. human. [O75444-2]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

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.
CCDSiCCDS10928.1. [O75444-1]
CCDS42198.1. [O75444-2]
RefSeqiNP_001026974.1. NM_001031804.2. [O75444-2]
NP_005351.2. NM_005360.4. [O75444-1]
UniGeneiHs.134859.

3D structure databases

ProteinModelPortaliO75444.
SMRiO75444.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110269. 22 interactors.
IntActiO75444. 6 interactors.
STRINGi9606.ENSP00000327048.

PTM databases

iPTMnetiO75444.
PhosphoSitePlusiO75444.

Polymorphism and mutation databases

BioMutaiMAF.

Proteomic databases

PaxDbiO75444.
PeptideAtlasiO75444.
PRIDEiO75444.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326043; ENSP00000327048; ENSG00000178573. [O75444-1]
ENST00000393350; ENSP00000377019; ENSG00000178573. [O75444-2]
GeneIDi4094.
KEGGihsa:4094.
UCSCiuc002ffm.4. human. [O75444-2]

Organism-specific databases

CTDi4094.
DisGeNETi4094.
GeneCardsiMAF.
H-InvDBHIX0173268.
HGNCiHGNC:6776. MAF.
HPAiCAB010296.
HPA028289.
MalaCardsiMAF.
MIMi177075. gene.
601088. phenotype.
610202. phenotype.
neXtProtiNX_O75444.
OpenTargetsiENSG00000178573.
Orphaneti1377. Cataract-microcornea syndrome.
98989. Cerulean cataract.
98984. Pulverulent cataract.
PharmGKBiPA30534.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4196. Eukaryota.
ENOG410YCYQ. LUCA.
GeneTreeiENSGT00550000074549.
HOGENOMiHOG000261683.
HOVERGENiHBG000313.
InParanoidiO75444.
KOiK09035.
OMAiLINSSHH.
OrthoDBiEOG091G0H46.
PhylomeDBiO75444.
TreeFamiTF325689.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178573-MONOMER.
SignaLinkiO75444.
SIGNORiO75444.

Miscellaneous databases

GeneWikiiMAF_(gene).
GenomeRNAii4094.
PROiO75444.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178573.
CleanExiHS_MAF.
ExpressionAtlasiO75444. baseline and differential.
GenevisibleiO75444. HS.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR028573. Maf/V-MAF.
IPR013592. Maf_TF_N.
IPR008917. TF_DNA-bd.
IPR024874. Transciption_factor_Maf_fam.
[Graphical view]
PANTHERiPTHR10129. PTHR10129. 2 hits.
PTHR10129:SF9. PTHR10129:SF9. 2 hits.
PfamiPF03131. bZIP_Maf. 1 hit.
PF08383. Maf_N. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMAF_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.