MAF MAF bZIP transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAFprovided by HGNC
Official Full Name: MAF bZIP transcription factorprovided by HGNC
Primary source: HGNC:HGNC:6776
See related: Ensembl:ENSG00000178573 MIM:177075; AllianceGenome:HGNC:6776
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: CCA4; AYGRP; c-MAF; CTRCT21
Summary: The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Expression: Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (79202622..79600737, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (85268951..85657071, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (79627735..79634634, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcription factor c-Maf drives macrophages to promote hypertrophic scar formation.
Title: Transcription factor c-Maf drives macrophages to promote hypertrophic scar formation.
Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
Title: Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
c-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells.
Title: c-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells.
Differential metabolic requirement governed by transcription factor c-Maf dictates innate gammadeltaT17 effector functionality in mice and humans.
Title: Differential metabolic requirement governed by transcription factor c-Maf dictates innate γδT17 effector functionality in mice and humans.
c-Maf: The magic wand that turns on LSEC fate.
Title: c-Maf: The magic wand that turns on LSEC fate.
Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8(+) T Cells in Multiple Sclerosis.
Title: Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8(+) T Cells in Multiple Sclerosis.
Molecular Mechanisms Driving IL-10- Producing B Cells Functions: STAT3 and c-MAF as Underestimated Central Key Regulators?
Title: Molecular Mechanisms Driving IL-10- Producing B Cells Functions: STAT3 and c-MAF as Underestimated Central Key Regulators?
MAF Amplification and Adjuvant Clodronate Outcomes in Early-Stage Breast Cancer in NSABP B-34 and Potential Impact on Clinical Practice.
Title: MAF Amplification and Adjuvant Clodronate Outcomes in Early-Stage Breast Cancer in NSABP B-34 and Potential Impact on Clinical Practice.
Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes.
Title: Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes.
16q23/MAF Gene Deletion Is a Frequent Cytogenetic Abnormality in Multiple Myeloma Associated With IgH Deletion but Significantly Lower Incidence of High-Risk Translocations.
Title: 16q23/MAF Gene Deletion Is a Frequent Cytogenetic Abnormality in Multiple Myeloma Associated With IgH Deletion but Significantly Lower Incidence of High-Risk Translocations.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ayme-Gripp syndrome MedGen: C1832812 OMIM: 601088 GeneReviews: Ayme-Gripp Syndrome	Compare labs
Cataract 21 multiple types MedGen: C1857768 OMIM: 610202 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47061 (e-PCR)
- UniSTS:4100

RH41999 (e-PCR)
- UniSTS:71709

Maf (e-PCR), detects polymorphism
- UniSTS:231406

D19Wox13 (e-PCR)
- UniSTS:518651

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in integrated stress response signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in lens fiber cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RNA polymerase II transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription factor Maf

Names: Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene; T lymphocyte c-maf long form; c-maf proto-oncogene; proto-oncogene c-Maf; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog

NCBI Reference Sequences (RefSeq)

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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

NG_016440.2 RefSeqGene

Range

5000..11899

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031804.3 → NP_001026974.1 transcription factor Maf isoform b

See identical proteins and their annotated locations for NP_001026974.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents an unspliced transcript compared to variant 1, which results in a frame-shift and a shorter isoform (b) with a distinct C-terminus compared to isoform a.

Source sequence(s)

AC009159, BC038438, BC081542, BE644986, BF726289

Consensus CDS

CCDS42198.1

UniProtKB/Swiss-Prot

O75444, Q66I47, Q9UP93

UniProtKB/TrEMBL

Q71A33

Related

ENSP00000377019.1, ENST00000393350.1

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region
NM_005360.5 → NP_005351.2 transcription factor Maf isoform a

See identical proteins and their annotated locations for NP_005351.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is spliced and encodes the longer isoform (a).

Source sequence(s)

AC009159, AF055377, BC038438, BC081542, BE644986, BF726289

Consensus CDS

CCDS10928.1

UniProtKB/TrEMBL

Q71A33

Related

ENSP00000327048.4, ENST00000326043.5

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

79202622..79600737 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450279.2 → XP_024306047.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11, Q71A33

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region
XM_017023234.3 → XP_016878723.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11, Q71A33

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region
XM_017023235.3 → XP_016878724.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11, Q71A33

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region
XM_017023233.3 → XP_016878722.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11, Q71A33

Related

ENSP00000455097.1, ENST00000569649.1

Conserved Domains (2) summary

cd14718
Location:283 → 351

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:86 → 119

Maf_N; Maf N-terminal region

RNA

XR_002957804.2 RNA Sequence
XR_001751902.3 RNA Sequence
XR_002957803.2 RNA Sequence
XR_002957802.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

85268951..85657071 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380322.1 → XP_054236297.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11
XM_054380323.1 → XP_054236298.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11
XM_054380324.1 → XP_054236299.1 transcription factor Maf isoform X1

UniProtKB/TrEMBL

H3BP11