UniProtKB - Q9HBE1 (PATZ1_HUMAN)
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Protein
POZ-, AT hook-, and zinc finger-containing protein 1
Gene
PATZ1
Organism
Homo sapiens (Human)
Status
Functioni
Transcriptional repressor.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 264 – 276 | A.T hookAdd BLAST | 13 | |
Zinc fingeri | 292 – 314 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 355 – 377 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 383 – 405 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 413 – 436 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 442 – 464 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 495 – 518 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 605 – 628 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
GO - Biological processi
- male gonad development Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription, DNA-templated Source: UniProtKB
- spermatogenesis Source: Ensembl
- T cell differentiation Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
SIGNORi | Q9HBE1. |
Names & Taxonomyi
Protein namesi | Recommended name: POZ-, AT hook-, and zinc finger-containing protein 1Alternative name(s): 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 gene protein |
Gene namesi | Name:PATZ1 Synonyms:PATZ, RIAZ, ZBTB19, ZNF278, ZSG |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000100105.17. |
HGNCi | HGNC:13071. PATZ1. |
MIMi | 605165. gene. |
neXtProti | NX_Q9HBE1. |
Pathology & Biotechi
Involvement in diseasei
A chromosomal aberration involving PATZ1 is associated with small round cell sarcoma. Translocation t(1;22)(p36.1;q12) with EWSR1.1 Publication
Keywords - Diseasei
Proto-oncogeneOrganism-specific databases
DisGeNETi | 23598. |
OpenTargetsi | ENSG00000100105. |
PharmGKBi | PA162398806. |
Polymorphism and mutation databases
BioMutai | PATZ1. |
DMDMi | 38258840. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047504 | 1 – 687 | POZ-, AT hook-, and zinc finger-containing protein 1Add BLAST | 687 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 112 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 272 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 282 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9HBE1. |
MaxQBi | Q9HBE1. |
PaxDbi | Q9HBE1. |
PeptideAtlasi | Q9HBE1. |
PRIDEi | Q9HBE1. |
PTM databases
iPTMneti | Q9HBE1. |
PhosphoSitePlusi | Q9HBE1. |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000100105. |
CleanExi | HS_PATZ1. |
ExpressionAtlasi | Q9HBE1. baseline and differential. |
Genevisiblei | Q9HBE1. HS. |
Organism-specific databases
HPAi | HPA047893. HPA048315. |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGridi | 117133. 42 interactors. |
IntActi | Q9HBE1. 80 interactors. |
MINTi | Q9HBE1. |
STRINGi | 9606.ENSP00000266269. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Turni | 295 – 297 | Combined sources | 3 | |
Helixi | 304 – 314 | Combined sources | 11 | |
Turni | 315 – 317 | Combined sources | 3 | |
Beta strandi | 354 – 357 | Combined sources | 4 | |
Turni | 358 – 361 | Combined sources | 4 | |
Beta strandi | 362 – 366 | Combined sources | 5 | |
Helixi | 367 – 373 | Combined sources | 7 | |
Helixi | 374 – 376 | Combined sources | 3 | |
Beta strandi | 382 – 385 | Combined sources | 4 | |
Turni | 386 – 389 | Combined sources | 4 | |
Beta strandi | 391 – 393 | Combined sources | 3 | |
Helixi | 395 – 405 | Combined sources | 11 | |
Beta strandi | 411 – 413 | Combined sources | 3 | |
Beta strandi | 416 – 418 | Combined sources | 3 | |
Beta strandi | 421 – 424 | Combined sources | 4 | |
Helixi | 425 – 434 | Combined sources | 10 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EPP | NMR | - | A | 286-338 | [»] | |
2EPQ | NMR | - | A | 380-411 | [»] | |
2EPR | NMR | - | A | 350-384 | [»] | |
2EPS | NMR | - | A | 408-445 | [»] | |
2YT9 | NMR | - | A | 355-436 | [»] | |
ProteinModelPortali | Q9HBE1. | |||||
SMRi | Q9HBE1. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9HBE1. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 41 – 130 | BTBPROSITE-ProRule annotationAdd BLAST | 90 |
Sequence similaritiesi
Belongs to the krueppel C2H2-type zinc-finger protein family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 292 – 314 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 355 – 377 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 383 – 405 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 413 – 436 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 442 – 464 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 495 – 518 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 605 – 628 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721. Eukaryota. COG5048. LUCA. |
GeneTreei | ENSGT00530000063522. |
HOGENOMi | HOG000037943. |
HOVERGENi | HBG056645. |
InParanoidi | Q9HBE1. |
OMAi | LDSMMFG. |
OrthoDBi | EOG091G04OT. |
PhylomeDBi | Q9HBE1. |
TreeFami | TF331686. |
Family and domain databases
InterProi | View protein in InterPro IPR000210. BTB/POZ_dom. IPR000637. HMGI/Y_DNA-bd_CS. IPR011333. SKP1/BTB/POZ_sf. IPR036236. Znf_C2H2_sf. IPR013087. Znf_C2H2_type. |
Pfami | View protein in Pfam PF00651. BTB. 1 hit. |
SMARTi | View protein in SMART SM00225. BTB. 1 hit. SM00355. ZnF_C2H2. 8 hits. |
SUPFAMi | SSF54695. SSF54695. 2 hits. SSF57667. SSF57667. 4 hits. |
PROSITEi | View protein in PROSITE PS50097. BTB. 1 hit. PS00354. HMGI_Y. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 7 hits. PS50157. ZINC_FINGER_C2H2_2. 7 hits. |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9HBE1-1) [UniParc]FASTAAdd to basket
Also known as: C
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MERVNDASCG PSGCYTYQVS RHSTEMLHNL NQQRKNGGRF CDVLLRVGDE
60 70 80 90 100
SFPAHRAVLA ACSEYFESVF SAQLGDGGAA DGGPADVGGA TAAPGGGAGG
110 120 130 140 150
SRELEMHTIS SKVFGDILDF AYTSRIVVRL ESFPELMTAA KFLLMRSVIE
160 170 180 190 200
ICQEVIKQSN VQILVPPARA DIMLFRPPGT SDLGFPLDMT NGAALAANSN
210 220 230 240 250
GIAGSMQPEE EAARAAGAAI AGQASLPVLP GVDRLPMVAG PLSPQLLTSP
260 270 280 290 300
FPSVASSAPP LTGKRGRGRP RKANLLDSMF GSPGGLREAG ILPCGLCGKV
310 320 330 340 350
FTDANRLRQH EAQHGVTSLQ LGYIDLPPPR LGENGLPISE DPDGPRKRSR
360 370 380 390 400
TRKQVACEIC GKIFRDVYHL NRHKLSHSGE KPYSCPVCGL RFKRKDRMSY
410 420 430 440 450
HVRSHDGSVG KPYICQSCGK GFSRPDHLNG HIKQVHTSER PHKCQTCNAS
460 470 480 490 500
FATRDRLRSH LACHEDKVPC QVCGKYLRAA YMADHLKKHS EGPSNFCSIC
510 520 530 540 550
NRGFSSASYL KVHVKTHHGV PLPQVSRHQE PILNGGAAFH CARTYGNKEG
560 570 580 590 600
QKCSHQDPIE SSDSYGDLSD ASDLKTPEKQ SANGSFSCDM AVPKNKMESD
610 620 630 640 650
GEKKYPCPEC GSFFRSKSYL NKHIQKVHVR ALGGPLGDLG PALGSPFSPQ
660 670 680
QNMSLLESFG FQIVQSAFAS SLVDPEVDQQ PMGPEGK
Sequence cautioni
The sequence CAB51404 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 63 | S → N in AAF32518 (PubMed:10713105).Curated | 1 | |
Sequence conflicti | 259 | P → L in AAF32518 (PubMed:10713105).Curated | 1 | |
Sequence conflicti | 394 | R → K in AAF32518 (PubMed:10713105).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052724 | 685 | E → D. Corresponds to variant dbSNP:rs2240424Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008802 | 446 – 537 | TCNAS…LNGGA → VWVGSSSGLPPLEPLPSDLP SWDFAQPALWRSSHSVPDTA FSLSLKKSFPALENLGPAHS SNTLFCPAPPGYLRQGWTTP EGSRAFTQWPVG in isoform 4. 3 PublicationsAdd BLAST | 92 | |
Alternative sequenceiVSP_008801 | 503 – 548 | Missing in isoform 3. 3 PublicationsAdd BLAST | 46 | |
Alternative sequenceiVSP_008799 | 504 – 537 | FSSAS…LNGGA → LQAPGAHPEWGSSVPLRQDL WQQRRPEMLTSGSD in isoform 2. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_008800 | 538 – 687 | Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST | 150 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF119256 mRNA. Translation: AAF32518.1. AF254082 mRNA. Translation: AAG09031.1. AF254083 mRNA. Translation: AAG09032.1. AF254084 mRNA. Translation: AAG09033.1. AF254085 mRNA. Translation: AAG09034.1. AY028384 mRNA. Translation: AAK19024.1. AL096880 mRNA. Translation: CAB51404.1. Different initiation. CR456613 mRNA. Translation: CAG30499.1. AC005003 Genomic DNA. Translation: AAF01349.1. BC021091 mRNA. Translation: AAH21091.1. |
CCDSi | CCDS13894.1. [Q9HBE1-1] CCDS13895.1. [Q9HBE1-3] CCDS13896.1. [Q9HBE1-4] CCDS46691.1. [Q9HBE1-2] |
RefSeqi | NP_055138.2. NM_014323.2. [Q9HBE1-1] NP_114439.1. NM_032050.1. [Q9HBE1-3] NP_114440.1. NM_032051.1. [Q9HBE1-4] NP_114441.1. NM_032052.1. [Q9HBE1-2] |
UniGenei | Hs.731398. |
Genome annotation databases
Ensembli | ENST00000215919; ENSP00000215919; ENSG00000100105. [Q9HBE1-4] ENST00000266269; ENSP00000266269; ENSG00000100105. [Q9HBE1-1] ENST00000351933; ENSP00000337520; ENSG00000100105. [Q9HBE1-3] ENST00000405309; ENSP00000384173; ENSG00000100105. [Q9HBE1-2] |
GeneIDi | 23598. |
KEGGi | hsa:23598. |
UCSCi | uc003akp.4. human. [Q9HBE1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | PATZ1_HUMAN | |
Accessioni | Q9HBE1Primary (citable) accession number: Q9HBE1 Secondary accession number(s): Q9HBE2 Q9Y529 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 7, 2003 |
Last sequence update: | March 1, 2001 | |
Last modified: | March 28, 2018 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |