Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57178
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger MIZ-type containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZMIZ1
Synonyms (NCBI Gene) Gene synonyms aliases
MIZ, NEDDFSA, RAI17, TRAFIP10, ZIMP10
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also p
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs777843533 ->C Pathogenic Coding sequence variant, frameshift variant
rs1554817910 A>G Pathogenic, likely-pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs1589579476 C>A Pathogenic Coding sequence variant, missense variant
rs1589579500 C>T Pathogenic Coding sequence variant, missense variant
rs1589590917 ->C Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017830 hsa-miR-335-5p Microarray 18185580
MIRT027882 hsa-miR-96-5p Sequencing 20371350
MIRT028022 hsa-miR-93-5p Sequencing 20371350
MIRT036014 hsa-miR-1301-3p CLASH 23622248
MIRT035934 hsa-miR-1180-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0001570 Process Vasculogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003007 Process Heart morphogenesis IEA
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607159 16493 ENSG00000108175
Protein
UniProt ID Q9ULJ6
Protein name Zinc finger MIZ domain-containing protein 1 (PIAS-like protein Zimp10) (Retinoic acid-induced protein 17)
Protein function Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Also functions as a tr
PDB 5AIZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18028 Zmiz1_N 8 106 Zmiz1 N-terminal tetratricopeptide repeat domain Domain
PF02891 zf-MIZ 738 787 MIZ/SP-RING zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed most abundantly in ovary and, at lower levels, in prostate, spleen and testis. Weak expression, if any, in thymus, small intestine, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:14609956}.
Sequence
MNSMDRHIQQTNDRLQCIKQHLQNPANFHNAATELLDWCGDPRAFQRPFEQSLMGCLTVV
SRVAAQQGFDLDLGYRLLAVCAANRDKFTPKSAALLSSWCEELGRL
LLLRHQKSRQSDPP
GKLPMQPPLSSMSSMKPTLSHSDGSFPYDSVPWQQNTNQPPGSLSVVTTVWGVTNTSQSQ
VLGNPMANANNPMNPGGNPMASGMTTSNPGLNSPQFAGQQQQFSAKAGPAQPYIQQSMYG
RPNYPGSGGFGASYPGGPNAPAGMGIPPHTRPPADFTQPAAAAAAAAVAAAAATATATAT
ATVAALQETQNKDINQYGPMGPTQAYNSQFMNQPGPRGPASMGGSMNPASMAAGMTPSGM
SGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGEPNYGNQQYGP
NSQFPTQPGQYPAPNPPRPLTSPNYPGQRMPSQPSSGQYPPPTVNMGQYYKPEQFNGQNN
TFSGSSYSNYSQGNVNRPPRPVPVANYPHSPVPGNPTPPMTPGSSIPPYLSPSQDVKPPF
PPDIKPNMSALPPPPANHNDELRLTFPVRDGVVLEPFRLEHNLAVSNHVFHLRPTVHQTL
MWRSDLELQFKCYHHEDRQMNTNWPASVQVSVNATPLTIERGDNKTSHKPLHLKHVCQPG
RNTIQITVTACCCSHLFVLQLVHRPSVRSVLQGLLKKRLLPAEHCITKIKRNFSSVAASS
GNTTLNGEDGVEQTAIKVSLKCPITFRRIQLPARGHDCKHVQCFDLESYLQLNCERGTWR
CPVCNKT
ALLEGLEVDQYMWGILNAIQHSEFEEVTIDPTCSWRPVPIKSDLHIKDDPDGI
PSKRFKTMSPSQMIMPNVMEMIAALGPGPSPYPLPPPPGGTNSNDYSSQGNNYQGHGNFD
FPHGNPGGTSMNDFMHGPPQLSHPPDMPNNMAALEKPLSHPMQETMPHAGSSDQPHPSIQ
QGLHVPHPSSQSGPPLHHSGAPPPPPSQPPRQPPQAAPSSHPHSDLTFNPSSALEGQAGA
QGASDMPEPSLDLLPELTNPDELLSYLDPPDLPSNSNDDLLSLFENN
Sequence length 1067
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 32170005
Alcohol Related Disorders Associate 34680978
Arthritis Juvenile Associate 24709693
Autoimmune Diseases Associate 28447608
Breast Neoplasms Associate 22348646, 23136140, 24218030, 27863437, 38564418
Celiac Disease Associate 20190752
Colitis Ulcerative Associate 21530736
Colorectal Neoplasms Associate 28084440, 38214831
Crohn Disease Associate 25489960
Diabetes Mellitus Associate 27554474