Details for: MAF

Gene ID: 4094

Symbol: MAF

Ensembl ID: ENSG00000178573

Description: MAF bZIP transcription factor

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.6
    Marker Score: 1293
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 2.32
    Marker Score: 947
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.3
    Marker Score: 1344
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 2.29
    Marker Score: 1259
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.24
    Marker Score: 2236.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2
    Marker Score: 7101
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.94
    Marker Score: 471
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.93
    Marker Score: 38414
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.88
    Marker Score: 6972
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.84
    Marker Score: 1970
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.73
    Marker Score: 63906.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.71
    Marker Score: 7078
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.66
    Marker Score: 2557
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.63
    Marker Score: 1863
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.54
    Marker Score: 22960
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.52
    Marker Score: 15251.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.51
    Marker Score: 6523
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.51
    Marker Score: 9643
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.48
    Marker Score: 16685
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.47
    Marker Score: 728
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.39
    Marker Score: 2537
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.39
    Marker Score: 320
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 1.38
    Marker Score: 864
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.34
    Marker Score: 416
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.34
    Marker Score: 293
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.32
    Marker Score: 477
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.32
    Marker Score: 1593
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.31
    Marker Score: 421
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3
    Marker Score: 5014.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.29
    Marker Score: 48800.5
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.27
    Marker Score: 3561
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.16
    Marker Score: 674
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.15
    Marker Score: 39282
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.11
    Marker Score: 2615
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.11
    Marker Score: 10989
  • Cell Name: T follicular regulatory cell (CL0009113)
    Fold Change: 1.11
    Marker Score: 301
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.1
    Marker Score: 9441.5
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.09
    Marker Score: 726
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.09
    Marker Score: 912
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.09
    Marker Score: 344
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.08
    Marker Score: 5202
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.07
    Marker Score: 1755.5
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.06
    Marker Score: 974
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.05
    Marker Score: 2747
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.04
    Marker Score: 1159
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251666.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.03
    Marker Score: 1189
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.03
    Marker Score: 1095
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.02
    Marker Score: 2246
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.02
    Marker Score: 15940.5
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.01
    Marker Score: 509
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 1.01
    Marker Score: 590
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71692
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47916.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30393
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.98
    Marker Score: 1208
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.97
    Marker Score: 1050
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.97
    Marker Score: 226
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.96
    Marker Score: 6247
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.96
    Marker Score: 272
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.96
    Marker Score: 237
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 0.96
    Marker Score: 493
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.96
    Marker Score: 651
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.95
    Marker Score: 7263.5
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.95
    Marker Score: 220
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.94
    Marker Score: 1298
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.93
    Marker Score: 19769
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.92
    Marker Score: 337
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.92
    Marker Score: 1497
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.92
    Marker Score: 553
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.92
    Marker Score: 493
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.91
    Marker Score: 856
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.91
    Marker Score: 695
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.91
    Marker Score: 1221
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.9
    Marker Score: 282
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.88
    Marker Score: 299
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5237
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.85
    Marker Score: 191
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.85
    Marker Score: 703
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4820
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.83
    Marker Score: 201
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.82
    Marker Score: 692
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.82
    Marker Score: 4981.5
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.82
    Marker Score: 374
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.81
    Marker Score: 947
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 322
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.8
    Marker Score: 536
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.8
    Marker Score: 290
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.79
    Marker Score: 877
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 598
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.78
    Marker Score: 250
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.77
    Marker Score: 191
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.76
    Marker Score: 364
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.76
    Marker Score: 989

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Other Information

**Key Characteristics:** MAF is a bZIP transcription factor that belongs to the Maf family of proteins. It possesses a characteristic bZIP domain, which allows it to interact with DNA and other transcription factors. MAF is primarily expressed in the central nervous system, epithelial cells of proximal tubules, endothelial cells of sinusoids, and other cell types involved in various physiological processes. MAF's expression profile suggests its involvement in regulating cell growth, differentiation, and survival in these tissues. **Pathways and Functions:** MAF regulates gene expression through its interaction with RNA polymerase II and the transcriptional machinery. It is involved in the activation of transcription by RNA polymerase II, particularly in the context of cell growth and differentiation. MAF's expression is also regulated by other transcription factors, such as Runx2, which plays a crucial role in bone development and osteoblast differentiation. MAF's involvement in the integrated stress response signaling pathway suggests its role in responding to cellular stress and promoting cell survival. **Functions:** MAF's functions can be broadly categorized into the following: 1. **Transcriptional activation:** MAF acts as a transcriptional activator, promoting the expression of target genes involved in cell growth, differentiation, and survival. 2. **Cell growth and differentiation:** MAF regulates the expression of genes involved in cell growth and differentiation, particularly in the central nervous system and epithelial cells. 3. **Response to cellular stress:** MAF's involvement in the integrated stress response signaling pathway suggests its role in responding to cellular stress and promoting cell survival. 4. **Regulation of chondrocyte differentiation:** MAF regulates the expression of genes involved in chondrocyte differentiation, which is essential for bone development and osteoblast differentiation. **Clinical Significance:** MAF's dysregulation has been implicated in various diseases, including: 1. **Cancer:** MAF's overexpression has been observed in certain types of cancer, such as melanoma and multiple myeloma, suggesting its role in tumorigenesis. 2. **Neurodegenerative diseases:** MAF's expression profile suggests its involvement in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Bone disorders:** MAF's regulation of osteoblast differentiation and bone development suggests its role in bone disorders, such as osteoporosis and bone cancer. In conclusion, the MAF transcription factor plays a crucial role in regulating gene expression in various tissues and developmental processes. Its dysregulation has been implicated in various diseases, highlighting the importance of MAF as a potential therapeutic target for disease treatment. Further studies are necessary to elucidate the mechanisms underlying MAF's functions and to explore its potential applications in disease treatment.

Genular Protein ID: 2506194736

Symbol: MAF_HUMAN

Name: Transcription factor Maf

UniProtKB Accession Codes:

O75444 Q66I47 Q9UP93

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 ComplexPortal 3 DNASU 1 DisGeNET 1 ELM 1 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NIAGADS 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9616139

Title: Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma.

PubMed ID: 9616139

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12149651

Title: c-Maf negatively regulates ARE-mediated detoxifying enzyme genes expression and anti-oxidant induction.

PubMed ID: 12149651

DOI: 10.1038/sj.onc.1205642

PubMed ID: 14998494

Title: Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma.

PubMed ID: 14998494

DOI: 10.1016/s1535-6108(04)00019-4

PubMed ID: 15007382

Title: Integration of high-resolution array comparative genomic hybridization analysis of chromosome 16q with expression array data refines common regions of loss at 16q23-qter and identifies underlying candidate tumor suppressor genes in prostate cancer.

PubMed ID: 15007382

DOI: 10.1038/sj.onc.1207474

PubMed ID: 15963504

Title: MafA transcription factor is phosphorylated by p38 MAP kinase.

PubMed ID: 15963504

DOI: 10.1016/j.febslet.2005.04.086

PubMed ID: 17875808

Title: A chemical biology screen identifies glucocorticoids that regulate c-maf expression by increasing its proteasomal degradation through up-regulation of ubiquitin.

PubMed ID: 17875808

DOI: 10.1182/blood-2007-05-088666

PubMed ID: 16247450

Title: Cell context reveals a dual role for Maf in oncogenesis.

PubMed ID: 16247450

DOI: 10.1038/sj.onc.1209171

PubMed ID: 17897790

Title: CD13/APN transcription is regulated by the proto-oncogene c-Maf via an atypical response element.

PubMed ID: 17897790

DOI: 10.1016/j.gene.2007.08.010

PubMed ID: 18042454

Title: GSK-3-mediated phosphorylation enhances Maf-transforming activity.

PubMed ID: 18042454

DOI: 10.1016/j.molcel.2007.11.009

PubMed ID: 24664492

Title: Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

PubMed ID: 24664492

DOI: 10.1002/ajmg.a.36433

PubMed ID: 25865493

Title: Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.

PubMed ID: 25865493

DOI: 10.1016/j.ajhg.2015.03.001

PubMed ID: 19143053

Title: A new MAFia in cancer.

PubMed ID: 19143053

DOI: 10.1038/nrc2460

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 11772997

Title: Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

PubMed ID: 11772997

DOI: 10.1093/hmg/11.1.33

PubMed ID: 16470690

Title: A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family.

PubMed ID: 16470690

DOI: 10.1002/ajmg.a.31126

PubMed ID: 19182255

Title: Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

PubMed ID: 19182255

DOI: 10.1167/iovs.08-3149

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 373
  • Mass: 38492
  • Checksum: 566C2BC3E4A62762
  • Sequence:
    • MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI AGGSLSSTPM 
STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ LNPEALGFSP EDAVEALISN 
SHQLQGGFDG YARGAQQLAA AAGAGAGASL GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH 
YHHHHHHAAG HHHHPTAGAP GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA 
GAGGALHPHH AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG 
YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK LVSSGFRENG 
SSSDNPSSPE FFM

Genular Protein ID: 3439476004

Symbol: H3BP11_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BP11

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 6 MassIVE 1 NCBI Taxonomy 1 NIAGADS 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 3 SAM 2 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.O114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 383
  • Mass: 39631
  • Checksum: B9DCB050CC43EF2F
  • Sequence:
    • MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI AGGSLSSTPM 
STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ LNPEALGFSP EDAVEALISN 
SHQLQGGFDG YARGAQQLAA AAGAGAGASL GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH 
YHHHHHHAAG HHHHPTAGAP GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA 
GAGGALHPHH AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG 
YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK LVSSGFRENG 
SSSDNPSSPE FFMYPRESST SVM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.