MAZ MYC associated zinc finger protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAZprovided by HGNC
Official Full Name: MYC associated zinc finger proteinprovided by HGNC
Primary source: HGNC:HGNC:6914
See related: Ensembl:ENSG00000103495 MIM:600999; AllianceGenome:HGNC:6914
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PUR1; ZF87; Pur-1; SAF-1; SAF-2; SAF-3; Zif87; ZNF801
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of gene expression; regulation of signal transduction; and transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 38.3), colon (RPKM 34.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (29806124..29811164)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30088290..30093330)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (29817445..29822485)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

MAZ promotes thyroid cancer progression by driving transcriptional reprogram and enhancing ERK1/2 activation.
Title: MAZ promotes thyroid cancer progression by driving transcriptional reprogram and enhancing ERK1/2 activation.
G-quadruplexes promote the motility in MAZ phase-separated condensates to activate CCND1 expression and contribute to hepatocarcinogenesis.
Title: G-quadruplexes promote the motility in MAZ phase-separated condensates to activate CCND1 expression and contribute to hepatocarcinogenesis.
Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma.
Title: Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma.
Myc-Associated Zinc Finger Protein Promotes Metastasis of Papillary Thyroid Cancer.
Title: Myc-Associated Zinc Finger Protein Promotes Metastasis of Papillary Thyroid Cancer.
The transcription factor Maz is essential for normal eye development.
Title: The transcription factor Maz is essential for normal eye development.
Identification of the transcription factor MAZ as a regulator of erythropoiesis.
Title: Identification of the transcription factor MAZ as a regulator of erythropoiesis.
The Myc-associated zinc finger protein (MAZ) works together with CTCF to control cohesin positioning and genome organization.
Title: The Myc-associated zinc finger protein (MAZ) works together with CTCF to control cohesin positioning and genome organization.
We have constructed the bichromatic fluorescent reporter driven by SAF/MAZ 5'-proximal promoter plasmids from which transactivation status of SAF-1 and SAF-3 alternative promoter could be monitored by EGFP and DsRed expression respectively
Title: Revealing the alternative promoter usage of SAF/MAZ gene by bichromatic fluorescent reporter construct.
genotypes TT (SHMT1 rs4925166), CC (ERG rs2836425), GG (MAZ rs34286592), and GG (SHMT1 rs1979277) had the highest negative association (protective effect) with multiple sclerosis
Title: Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.
MAZ is a potential therapeutic target to dampen STAT3 signaling in colon cancer.
Title: Myc-Associated Zinc Finger Protein Regulates the Proinflammatory Response in Colitis and Colon Cancer via STAT3 Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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

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

D16S429E (e-PCR)
- UniSTS:3899

D16S429E (e-PCR)
- UniSTS:60106

STS-L29096 (e-PCR)
- UniSTS:18896

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in termination of RNA polymerase II transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myc-associated zinc finger protein

Names: MAZI; purine-binding transcription factor; serum amyloid A activating factor 1; serum amyloid A activating factor 2; transcription factor Zif87; zinc finger protein 801; zinc-finger protein, 87 kilodaltons

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.

mRNA and Protein(s)

NM_001042539.3 → NP_001036004.1 myc-associated zinc finger protein isoform 2

See identical proteins and their annotated locations for NP_001036004.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).

Source sequence(s)

AC009133

Consensus CDS

CCDS42144.1

UniProtKB/Swiss-Prot

P56270

Related

ENSP00000219782.6, ENST00000219782.11

Conserved Domains (2) summary

COG5189
Location:303 → 360

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:281 → 301

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001276275.2 → NP_001263204.1 myc-associated zinc finger protein isoform 3

See identical proteins and their annotated locations for NP_001263204.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an exon in the 3' coding region, compared to variant 2. The encoded isoform (3) is shorter and has distinct N- and C-termini compared to isoform 2.

Source sequence(s)

AC009133

Consensus CDS

CCDS61902.1

UniProtKB/Swiss-Prot

P56270

UniProtKB/TrEMBL

Q59GP8

Related

ENSP00000443956.1, ENST00000545521.5

Conserved Domains (3) summary

COG5048
Location:254 → 302

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:258 → 278

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:270 → 295

zf-H2C2_2; Zinc-finger double domain
NM_001276276.2 → NP_001263205.1 myc-associated zinc finger protein isoform 4

See identical proteins and their annotated locations for NP_001263205.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks three exons in the coding region, one of which results in a frameshift, compared to variant 2. It encodes isoform 4 which has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AC009133

Consensus CDS

CCDS61903.1

UniProtKB/Swiss-Prot

P56270

Related

ENSP00000455726.1, ENST00000562337.5

Conserved Domains (1) summary

sd00017
Location:66 → 83

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_002383.4 → NP_002374.2 myc-associated zinc finger protein isoform 1

See identical proteins and their annotated locations for NP_002374.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region which results in a frameshift, compared to variant 2. It encodes isoform 1 which has a distinct C-terminus and is shorter than isoform 2.

Source sequence(s)

AC009133

Consensus CDS

CCDS42143.1

UniProtKB/Swiss-Prot

A8QJL9, C6G496, G5E927, H3BQD6, P56270, Q15703, Q8NFN7, Q99443

Related

ENSP00000313362.6, ENST00000322945.11

Conserved Domains (3) summary

sd00017
Location:281 → 301

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:337 → 357

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:293 → 318

zf-H2C2_2; Zinc-finger double domain

RNA

NR_074080.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two internal exons, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009133