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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
67
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental abnormality Pathogenic rs1039220588 RCV001264674
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic neurodevelopmental disorder Likely pathogenic; Pathogenic rs1554817910, rs777843533, rs1589579500, rs1589627206, rs1589579476, rs1589627138, rs1589590917, rs1853549548, rs1231805222, rs1854806983, rs1855124785 RCV001291147
RCV001291146
RCV001291142
RCV001291144
RCV001291149
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZMIZ1-related disorder Likely pathogenic rs2492204554 RCV003394513
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER 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
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
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 23749187, 26301688, 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile Juvenile arthritis Pubtator 24709693 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21150878
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 31373686
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASDB_DG 21383967
★☆☆☆☆
Found in Text Mining only