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Gene Gene information from NCBI Gene database.
Entrez ID 23598
Gene name POZ/BTB and AT hook containing zinc finger 1
Gene symbol PATZ1
Synonyms (NCBI Gene)
MAZRPATZRIAZZBTB19ZNF278ZSGdJ400N23
Chromosome 22
Chromosome location 22q12.2
Summary The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for p
miRNA miRNA information provided by mirtarbase database.
143 Show/Hide all (143)
miRTarBase ID miRNA Experiments Reference
MIRT048585 hsa-miR-100-5p CLASH 23622248
MIRT532689 hsa-miR-3680-5p PAR-CLIP 22012620
MIRT532688 hsa-miR-4636 PAR-CLIP 22012620
MIRT532687 hsa-miR-518c-5p PAR-CLIP 22012620
MIRT532686 hsa-miR-326 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28 Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
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 IEA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
GO:0001673 Component Male germ cell nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605165 13071 ENSG00000100105
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HBE1
Protein name POZ-, AT hook-, and zinc finger-containing protein 1 (BTB/POZ domain zinc finger transcription factor) (Protein kinase A RI subunit alpha-associated protein) (Zinc finger and BTB domain-containing protein 19) (Zinc finger protein 278) (Zinc finger sarcoma
Protein function Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes
PDB 2EPP , 2EPQ , 2EPR , 2EPS , 2YT9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 605 → 628 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 413 → 436 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 356 → 377 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 383 → 405 Zinc finger, C2H2 type Domain
PF00651 BTB 30 → 160 BTB/POZ domain Domain
PF13894 zf-C2H2_4 496 → 518 Domain
PF13912 zf-C2H2_6 442 → 467 Domain
PF16637 zf-C2H2_assoc3 536 → 604 Disordered
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MERVNDASCGPSGCYTYQVSRHSTEMLHNLNQQRKNGGRFCDVLLRVGDESFPAHRAVLA
ACSEYFESVFSAQLGDGGAADGGPADVGGATAAPGGGAGGSRELEMHTISSKVFGDILDF
AYTSRIVVRLESFPELMTAAKFLLMRSVIEICQEVIKQSN
VQILVPPARADIMLFRPPGT
SDLGFPLDMTNGAALAANSNGIAGSMQPEEEAARAAGAAIAGQASLPVLPGVDRLPMVAG
PLSPQLLTSPFPSVASSAPPLTGKRGRGRPRKANLLDSMFGSPGGLREAGILPCGLCGKV
FTDANRLRQHEAQHGVTSLQLGYIDLPPPRLGENGLPISEDPDGPRKRSRTRKQVACEIC
GKIFRDVYHLNRHKLSH
SGEKPYSCPVCGLRFKRKDRMSYHVRSHDGSVGKPYICQSCGK
GFSRPDHLNGHIKQVH
TSERPHKCQTCNASFATRDRLRSHLACHEDKVPCQVCGKYLRAA
YMADHLKKHSEGPSNFCSICNRGFSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGAAFH
CARTYGNKEGQKCSHQDPIESSDSYGDLSDASDLKTPEKQSANGSFSCDMAVPKNKMESD
GEKK
YPCPECGSFFRSKSYLNKHIQKVHVRALGGPLGDLGPALGSPFSPQQNMSLLESFG
FQIVQSAFASSLVDPEVDQQPMGPEGK
Sequence length 687
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 Reference Evidence Score
Ependymoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (43)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplasia Anaplasia BEFREE 29137300
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 25595894
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24819318
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 24819318
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24819318 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 33012788 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31614588
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 33378126, 34417833 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31099194, 34099871 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Central Nervous System Neoplasms Central nervous system neoplasm Pubtator 33378126, 34099871, 34417833, 38007157 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only