Human Gene PATZ1 (ENST00000266269.10) Description and Page Index
  Description: Homo sapiens POZ/BTB and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA. (from RefSeq NM_014323)
RefSeq Summary (NM_014323): 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 protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000266269.10
Gencode Gene: ENSG00000100105.18
Transcript (Including UTRs)
   Position: hg38 chr22:31,325,804-31,346,346 Size: 20,543 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr22:31,326,891-31,345,602 Size: 18,712 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:31,325,804-31,346,346)mRNA (may differ from genome)Protein (687 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PATZ1_HUMAN
DESCRIPTION: RecName: Full=POZ-, AT hook-, and zinc finger-containing protein 1; AltName: Full=BTB/POZ domain zinc finger transcription factor; AltName: Full=Protein kinase A RI subunit alpha-associated protein; AltName: Full=Zinc finger and BTB domain-containing protein 19; AltName: Full=Zinc finger protein 278; AltName: Full=Zinc finger sarcoma gene protein;
FUNCTION: Transcriptional repressor.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Note=A chromosomal aberration involving PATZ1 is associated with small round cell sarcoma. Translocation t(1;22)(p36.1;q12) with EWSR1.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 1 A.T hook DNA-binding domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 7 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=CAB51404.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: PATZ1
Diseases sorted by gene-association score: sarcoma (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.84 RPKM in Thyroid
Total median expression: 358.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -436.30744-0.586 Picture PostScript Text
3' UTR -321.701087-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017956 - AT_hook_DNA-bd_motif
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR000637 - HMGI/Y_DNA-bd_CS
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00651 - BTB/POZ domain
PF00096 - Zinc finger, C2H2 type

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2EPP
- NMR MuPIT

2EPQ
- NMR MuPIT

2EPR
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2EPS - NMR MuPIT 2YT9 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9HBE1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007283 spermatogenesis
GO:0008584 male gonad development
GO:0010468 regulation of gene expression
GO:0030217 T cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  LF208970 - JP 2014500723-A/16473: Polycomb-Associated Non-Coding RNAs.
MA444547 - JP 2018138019-A/16473: Polycomb-Associated Non-Coding RNAs.
AL096880 - Novel human mRNA containing Zinc finger C2H2 type domains.
AY028384 - Homo sapiens BTB-POZ domain zinc finger transcription factor (RIAZ) mRNA, complete cds.
AF254083 - Homo sapiens zinc finger sarcoma gene long A isoform (ZSG) mRNA, complete cds.
AF254084 - Homo sapiens zinc finger sarcoma gene long B isoform (ZSG) mRNA, complete cds.
AF254085 - Homo sapiens zinc finger sarcoma gene long C isoform (ZSG) mRNA, complete cds.
BC051357 - Homo sapiens zinc finger protein 278, mRNA (cDNA clone IMAGE:6598836), partial cds.
AB208787 - Homo sapiens mRNA for zinc finger protein 278 long A isoform variant protein.
JD040527 - Sequence 21551 from Patent EP1572962.
JD166030 - Sequence 147054 from Patent EP1572962.
JD219113 - Sequence 200137 from Patent EP1572962.
JD292187 - Sequence 273211 from Patent EP1572962.
JD065039 - Sequence 46063 from Patent EP1572962.
JD049044 - Sequence 30068 from Patent EP1572962.
LF213766 - JP 2014500723-A/21269: Polycomb-Associated Non-Coding RNAs.
MA449343 - JP 2018138019-A/21269: Polycomb-Associated Non-Coding RNAs.
JD168970 - Sequence 149994 from Patent EP1572962.
JD553877 - Sequence 534901 from Patent EP1572962.
JD137430 - Sequence 118454 from Patent EP1572962.
JD500602 - Sequence 481626 from Patent EP1572962.
JD259163 - Sequence 240187 from Patent EP1572962.
LF324549 - JP 2014500723-A/132052: Polycomb-Associated Non-Coding RNAs.
MA560126 - JP 2018138019-A/132052: Polycomb-Associated Non-Coding RNAs.
JD101211 - Sequence 82235 from Patent EP1572962.
CR456613 - Homo sapiens ZNF278 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.ZNF278).
JD041045 - Sequence 22069 from Patent EP1572962.
AF254087 - Homo sapiens EWS/ZSG fusion protein long A isoform (EWS/ZSG fusion) mRNA, complete cds.
AF254088 - Homo sapiens EWS/ZSG fusion protein long B isoform (EWS/ZSG fusion) mRNA, complete cds.
JD477246 - Sequence 458270 from Patent EP1572962.
JD544089 - Sequence 525113 from Patent EP1572962.
JD190471 - Sequence 171495 from Patent EP1572962.
JD335591 - Sequence 316615 from Patent EP1572962.
JD319122 - Sequence 300146 from Patent EP1572962.
CU013210 - Homo sapiens ZNF278, mRNA (cDNA clone IMAGE:100000564), complete cds, with stop codon, in Gateway system.
CU013498 - Homo sapiens ZNF278, mRNA (cDNA clone IMAGE:100000468), complete cds, without stop codon, in Gateway system.
AB384725 - Synthetic construct DNA, clone: pF1KB3020, Homo sapiens PATZ1 gene for POZ-, AT hook-, and zinc finger-containing protein 1, complete cds, without stop codon, in Flexi system.
JD403859 - Sequence 384883 from Patent EP1572962.
JD560906 - Sequence 541930 from Patent EP1572962.
JD394277 - Sequence 375301 from Patent EP1572962.
JD226954 - Sequence 207978 from Patent EP1572962.
JD541182 - Sequence 522206 from Patent EP1572962.
JD521167 - Sequence 502191 from Patent EP1572962.
LF324548 - JP 2014500723-A/132051: Polycomb-Associated Non-Coding RNAs.
MA560125 - JP 2018138019-A/132051: Polycomb-Associated Non-Coding RNAs.
LF324547 - JP 2014500723-A/132050: Polycomb-Associated Non-Coding RNAs.
MA560124 - JP 2018138019-A/132050: Polycomb-Associated Non-Coding RNAs.
AK123441 - Homo sapiens cDNA FLJ41447 fis, clone BRSTN2004869.
AF119256 - Homo sapiens PATZ (PATZ) mRNA, complete cds.
BC021091 - Homo sapiens POZ (BTB) and AT hook containing zinc finger 1, mRNA (cDNA clone MGC:31750 IMAGE:4857537), complete cds.
AF254082 - Homo sapiens zinc finger sarcoma gene short isoform (ZSG) mRNA, complete cds.
AK291803 - Homo sapiens cDNA FLJ76669 complete cds, highly similar to Homo sapiens zinc finger protein 278 (ZNF278), transcript variant 4, mRNA.
KJ898519 - Synthetic construct Homo sapiens clone ccsbBroadEn_07913 PATZ1 gene, encodes complete protein.
AF242522 - Homo sapiens krueppel-related zinc finger protein SBZF5 mRNA, complete cds.
LF324538 - JP 2014500723-A/132041: Polycomb-Associated Non-Coding RNAs.
MA560115 - JP 2018138019-A/132041: Polycomb-Associated Non-Coding RNAs.
JD142404 - Sequence 123428 from Patent EP1572962.
LF324537 - JP 2014500723-A/132040: Polycomb-Associated Non-Coding RNAs.
MA560114 - JP 2018138019-A/132040: Polycomb-Associated Non-Coding RNAs.
JD446006 - Sequence 427030 from Patent EP1572962.
JD445823 - Sequence 426847 from Patent EP1572962.
JD533526 - Sequence 514550 from Patent EP1572962.
LF324536 - JP 2014500723-A/132039: Polycomb-Associated Non-Coding RNAs.
MA560113 - JP 2018138019-A/132039: Polycomb-Associated Non-Coding RNAs.
JD469180 - Sequence 450204 from Patent EP1572962.
JD507188 - Sequence 488212 from Patent EP1572962.
JD446738 - Sequence 427762 from Patent EP1572962.
JD472961 - Sequence 453985 from Patent EP1572962.
JD396791 - Sequence 377815 from Patent EP1572962.
JD128986 - Sequence 110010 from Patent EP1572962.
JD458496 - Sequence 439520 from Patent EP1572962.
JD458497 - Sequence 439521 from Patent EP1572962.
JD458495 - Sequence 439519 from Patent EP1572962.
JD464102 - Sequence 445126 from Patent EP1572962.
JD149220 - Sequence 130244 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_014323, PATZ, PATZ1_HUMAN, Q9HBE1, Q9HBE2, Q9HBE3, Q9P1A9, Q9UDU0, Q9Y529, RIAZ, uc003akq.1, uc003akq.2, uc003akq.3, uc003akq.4, uc003akq.5, ZBTB19, ZNF278, ZSG
UCSC ID: uc003akq.5
RefSeq Accession: NM_014323
Protein: Q9HBE1 (aka PATZ1_HUMAN)
CCDS: CCDS13894.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.