Gene Gene information from NCBI Gene database.
Entrez ID 7593
Gene name Myeloid zinc finger 1
Gene symbol MZF1
Synonyms (NCBI Gene)
MZF-1MZF1BZFP98ZNF42ZSCAN6
Chromosome 19
Chromosome location 19q13.43
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYB Unknown 7565760
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 7579328
GO:0000976 Function Transcription cis-regulatory region binding IDA 15541732
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 7579328
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
194550 13108 ENSG00000099326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28698
Protein name Myeloid zinc finger 1 (MZF-1) (Zinc finger and SCAN domain-containing protein 6) (Zinc finger protein 42)
Protein function Binds to target promoter DNA and functions as a transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development. {ECO:0000269|PubMed:15541732, ECO:0
PDB 2FI2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02023 SCAN 40 129 SCAN domain Domain
PF00096 zf-C2H2 357 378 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 384 406 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 412 434 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 440 462 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 541 563 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 569 591 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 597 619 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 625 647 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 653 675 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 681 703 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 709 731 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in differentiating myeloid cells. Detected in osteoblasts. {ECO:0000269|PubMed:15541732}.
Sequence
MRPAVLGSPDRAPPEDEGPVMVKLEDSEEEGEAALWDPGPEAARLRFRCFRYEEATGPQE
ALAQLRELCRQWLRPEVRSKEQMLELLVLEQFLGALPPEIQARVQGQRPGSPEEAAALVD
GLRREPGGP
RRWVTVQVQGQEVLSEKMEPSSFQPLPETEPPTPEPGPKTPPRTMQESPLG
LQVKEESEVTEDSDFLESGPLAATQESVPTLLPEEAQRCGTVLDQIFPHSKTGPEGPSWR
EHPRALWHEEAGGIFSPGFALQLGSISAGPGSVSPHLHVPWDLGMAGLSGQIQSPSREGG
FAHALLLPSDLRSEQDPTDEDPCRGVGPALITTRWRSPRGRSRGRPSTGGGVVRGGRCDV
CGKVFSQRSNLLRHQKIH
TGERPFVCSECGRSFSRSSHLLRHQLTHTEERPFVCGDCGQG
FVRSARLEEHRRVH
TGEQPFRCAECGQSFRQRSNLLQHQRIHGDPPGPGAKPPAPPGAPE
PPGPFPCSECRESFARRAVLLEHQAVHTGDKSFGCVECGERFGRRSVLLQHRRVHSGERP
FACAECGQSFRQRSNLTQHRRIHTGERPFACAECGKAFRQRPTLTQHLRVHTGEKPFACP
ECGQRFSQRLKLTRHQRTH
TGEKPYHCGECGLGFTQVSRLTEHQRIHTGERPFACPECGQ
SFRQHANLTQHRRIH
TGERPYACPECGKAFRQRPTLTQHLRTHRREKPFACQDCGRRFHQ
STKLIQHQRVH
SAE
Sequence length 734
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER 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
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 25903835
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 2227373
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37047453 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25531323, 29510992, 30622337, 31301870
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22464443, 29510992, 30622337, 32848091, 40655141 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19587786 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26010542, 38058065 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 25877752 Associate
★☆☆☆☆
Found in Text Mining only