Gene Gene information from NCBI Gene database.
Entrez ID 57178
Gene name Zinc finger MIZ-type containing 1
Gene symbol ZMIZ1
Synonyms (NCBI Gene)
MIZNEDDFSARAI17TRAFIP10ZIMP10
Chromosome 10
Chromosome location 10q22.3
Summary 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.
7
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.
1187
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607159 16493 ENSG00000108175
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
118
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Pathogenic rs1039220588 RCV001264674
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies Likely pathogenic; Pathogenic rs2132037844, rs2132037242, rs2132094719, rs1854257578, rs2493741274, rs2492046422, rs2492115085, rs2492205344, rs2492126530, rs1554817910, rs1589579500, rs1589627206, rs1589579476, rs1589627138, rs1589590917
View all (1 more)
RCV001706765
RCV001814631
RCV003138117
RCV002288242
RCV003326693
RCV003314458
RCV003594712
RCV004586379
RCV004595127
RCV000856610
RCV000856608
RCV000856609
RCV000856611
RCV000856612
RCV000856613
RCV005603711
See cases Likely pathogenic rs2493741274 RCV004798039
Syndromic neurodevelopmental disorder Likely pathogenic; Pathogenic rs1554817910, rs777843533, rs1589579500, rs1589627206, rs1589579476, rs1589627138, rs1589590917, rs1853549548, rs1231805222, rs1854806983, rs1855124785 RCV001291147
RCV001291146
RCV001291142
RCV001291144
RCV001291149
RCV001291151
RCV001291150
RCV001291153
RCV001291145
RCV001291148
RCV001291154
RCV001291152
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs78060082 RCV005925803
Autism spectrum disorder Likely benign rs1854516687 RCV003127428
Cervical cancer Benign rs78060082, rs142102877 RCV005925805
RCV005929794
Developmental disorder Uncertain significance rs2492142804 RCV003127427
Associations from Text MiningDisease 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