Gene Gene information from NCBI Gene database.
Entrez ID 4150
Gene name MYC associated zinc finger protein
Gene symbol MAZ
Synonyms (NCBI Gene)
PUR1Pur-1SAF-1SAF-2SAF-3ZF87ZNF801Zif87
Chromosome 16
Chromosome location 16p11.2
miRNA miRNA information provided by mirtarbase database.
665
miRTarBase ID miRNA Experiments Reference
MIRT019432 hsa-miR-148b-3p Microarray 17612493
MIRT023060 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023351 hsa-miR-122-5p Microarray 17612493
MIRT047788 hsa-miR-30d-5p CLASH 23622248
MIRT047310 hsa-miR-181a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 26089202
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 1502157, 25487955
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600999 6914 ENSG00000103495
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56270
Protein name Myc-associated zinc finger protein (MAZI) (Pur-1) (Purine-binding transcription factor) (Serum amyloid A-activating factor-1) (SAF-1) (Transcription factor Zif87) (ZF87) (Zinc finger protein 801)
Protein function Transcriptional regulator, potentially with dual roles in transcription initiation and termination. ; [Isoform 1]: Binds DNA and functions as a transcriptional activator (PubMed:12270922). Binds to two G/A-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 279 301 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 307 330 Domain
PF00096 zf-C2H2 337 360 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex and midfrontal cortex (at protein level). {ECO:0000269|PubMed:10727212}.; TISSUE SPECIFICITY: [Isoform 1]: Expressed in the heart, brain, placen
Sequence
MFPVFPCTLLAPPFPVLGLDSRGVGGLMNSFPPPQGHAQNPLQVGAELQSRFFASQGCAQ
SPFQAAPAPPPTPQAPAAEPLQVDLLPVLAAAQESAAAAAAAAAAAAAVAAAPPAPAAAS
TVDTAALKQPPAPPPPPPPVSAPAAEAAPPASAATIAAAAATAVVAPTSTVAVAPVASAL
EKKTKSKGPYICALCAKEFKNGYNLRRHEAIHTGAKAGRVPSGAMKMPTMVPLSLLSVPQ
LSGAGGGGGEAGAGGGAAAVAAGGVVTTTASGKRIRKNHACEMCGKAFRDVYHLNRHKLS
H
SDEKPYQCPVCQQRFKRKDRMSYHVRSHDGAVHKPYNCSHCGKSFSRPDHLNSHVRQVH
STERPFKCEKCEAAFATKDRLRAHTVRHEEKVPCHVCGKMLSSAYISDHMKVHSQGPHHV
CELCNKGTGEVCPMAAAAAAAAAAAAAAVAAPPTAVGSLSGAEGVPVSSQPLPSQPW
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 16888022
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 29209328
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 39773540 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 12270922
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 12270922 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29414775
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 23609189
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 12270922, 24819318, 28279832
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 15383604
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 12270922 Associate
★☆☆☆☆
Found in Text Mining only