U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MAFB MAF bZIP transcription factor B [ Homo sapiens (human) ]

Gene ID: 9935, updated on 5-Aug-2022

Summary

Official Symbol
MAFBprovided by HGNC
Official Full Name
MAF bZIP transcription factor Bprovided by HGNC
Primary source
HGNC:HGNC:6408
See related
Ensembl:ENSG00000204103 MIM:608968; AllianceGenome:HGNC:6408
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KRML; MCTO; DURS3
Summary
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]
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MAFB in Genome Data Viewer
Location:
20q12
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (40685848..40689236, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42417334..42420722, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39314488..39317876, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10482 Neighboring gene uncharacterized LOC105372620 Neighboring gene VISTA enhancer hs1086 Neighboring gene uncharacterized LOC101927098 Neighboring gene small nucleolar RNA, C/D box 154

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2015-05-21)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2015-05-21)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
EBI GWAS Catalog
Genome-wide association study of serious blistering skin rash caused by drugs.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Wnt signaling and Dupuytren's disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC43127

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
involved_in abducens nerve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain segmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in cornified envelope assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in integrated stress response signaling IC
Inferred by Curator
more info
PubMed 
involved_in keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of erythrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of myeloid cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IC
Inferred by Curator
more info
PubMed 
involved_in respiratory gaseous exchange by respiratory system IEA
Inferred from Electronic Annotation
more info
 
involved_in rhombomere 5 development IEA
Inferred from Electronic Annotation
more info
 
involved_in rhombomere 6 development IEA
Inferred from Electronic Annotation
more info
 
involved_in segment specification IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
is_active_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor MafB
Names
Kreisler maf-related leucine zipper homolog
MAFB/Kreisler basic region/leucine zipper transcription factor
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023378.1 RefSeqGene

    Range
    5001..8389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005461.5NP_005452.2  transcription factor MafB

    See identical proteins and their annotated locations for NP_005452.2

    Status: REVIEWED

    Source sequence(s)
    AF134157, BC028098, BQ271704, DA719830
    Consensus CDS
    CCDS13311.1
    UniProtKB/Swiss-Prot
    Q9H1F1, Q9Y5Q3
    Related
    ENSP00000362410.2, ENST00000373313.3
    Conserved Domains (2) summary
    cd14718
    Location:233302
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:81113
    Maf_N; Maf N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    40685848..40689236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    42417334..42420722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)