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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
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional repressor.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi264 – 276A.T hookAdd BLAST13
Zinc fingeri292 – 314C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri355 – 377C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri383 – 405C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri413 – 436C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri442 – 464C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri495 – 518C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri605 – 628C2H2-type 7PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ9HBE1.

Names & Taxonomyi

Protein namesi
Recommended name:
POZ-, AT hook-, and zinc finger-containing protein 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100105.17.
HGNCiHGNC:13071. PATZ1.
MIMi605165. gene.
neXtProtiNX_Q9HBE1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

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-oncogene

Organism-specific databases

DisGeNETi23598.
OpenTargetsiENSG00000100105.
PharmGKBiPA162398806.

Polymorphism and mutation databases

BioMutaiPATZ1.
DMDMi38258840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000475041 – 687POZ-, AT hook-, and zinc finger-containing protein 1Add BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki112Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki272Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei282PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9HBE1.
MaxQBiQ9HBE1.
PaxDbiQ9HBE1.
PeptideAtlasiQ9HBE1.
PRIDEiQ9HBE1.

PTM databases

iPTMnetiQ9HBE1.
PhosphoSitePlusiQ9HBE1.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000100105.
CleanExiHS_PATZ1.
ExpressionAtlasiQ9HBE1. baseline and differential.
GenevisibleiQ9HBE1. HS.

Organism-specific databases

HPAiHPA047893.
HPA048315.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117133. 42 interactors.
IntActiQ9HBE1. 80 interactors.
MINTiQ9HBE1.
STRINGi9606.ENSP00000266269.

Structurei

Secondary structure

1687
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni295 – 297Combined sources3
Helixi304 – 314Combined sources11
Turni315 – 317Combined sources3
Beta strandi354 – 357Combined sources4
Turni358 – 361Combined sources4
Beta strandi362 – 366Combined sources5
Helixi367 – 373Combined sources7
Helixi374 – 376Combined sources3
Beta strandi382 – 385Combined sources4
Turni386 – 389Combined sources4
Beta strandi391 – 393Combined sources3
Helixi395 – 405Combined sources11
Beta strandi411 – 413Combined sources3
Beta strandi416 – 418Combined sources3
Beta strandi421 – 424Combined sources4
Helixi425 – 434Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EPPNMR-A286-338[»]
2EPQNMR-A380-411[»]
2EPRNMR-A350-384[»]
2EPSNMR-A408-445[»]
2YT9NMR-A355-436[»]
ProteinModelPortaliQ9HBE1.
SMRiQ9HBE1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HBE1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 130BTBPROSITE-ProRule annotationAdd BLAST90

Sequence similaritiesi

Belongs to the krueppel C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri292 – 314C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri355 – 377C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri383 – 405C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri413 – 436C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri442 – 464C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri495 – 518C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri605 – 628C2H2-type 7PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063522.
HOGENOMiHOG000037943.
HOVERGENiHBG056645.
InParanoidiQ9HBE1.
OMAiLDSMMFG.
OrthoDBiEOG091G04OT.
PhylomeDBiQ9HBE1.
TreeFamiTF331686.

Family and domain databases

InterProiView 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.
PfamiView protein in Pfam
PF00651. BTB. 1 hit.
SMARTiView protein in SMART
SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 8 hits.
SUPFAMiSSF54695. SSF54695. 2 hits.
SSF57667. SSF57667. 4 hits.
PROSITEiView 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.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative 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.

« Hide

        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
Length:687
Mass (Da):74,060
Last modified:March 1, 2001 - v1
Checksum:i0F1C59A78C6D110A
GO
Isoform 2 (identifier: Q9HBE1-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     504-537: FSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA → LQAPGAHPEWGSSVPLRQDLWQQRRPEMLTSGSD
     538-687: Missing.

Show »
Length:537
Mass (Da):57,995
Checksum:i950792413BF1F5DB
GO
Isoform 3 (identifier: Q9HBE1-3) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     503-548: Missing.

Show »
Length:641
Mass (Da):69,079
Checksum:i29515535E380F0CE
GO
Isoform 4 (identifier: Q9HBE1-4) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     446-537: TCNASFATRD...HQEPILNGGA → VWVGSSSGLP...SRAFTQWPVG
     538-687: Missing.

Show »
Length:537
Mass (Da):57,601
Checksum:iBA4A909E24800F13
GO

Sequence cautioni

The sequence CAB51404 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63S → N in AAF32518 (PubMed:10713105).Curated1
Sequence conflicti259P → L in AAF32518 (PubMed:10713105).Curated1
Sequence conflicti394R → K in AAF32518 (PubMed:10713105).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052724685E → D. Corresponds to variant dbSNP:rs2240424Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008802446 – 537TCNAS…LNGGA → VWVGSSSGLPPLEPLPSDLP SWDFAQPALWRSSHSVPDTA FSLSLKKSFPALENLGPAHS SNTLFCPAPPGYLRQGWTTP EGSRAFTQWPVG in isoform 4. 3 PublicationsAdd BLAST92
Alternative sequenceiVSP_008801503 – 548Missing in isoform 3. 3 PublicationsAdd BLAST46
Alternative sequenceiVSP_008799504 – 537FSSAS…LNGGA → LQAPGAHPEWGSSVPLRQDL WQQRRPEMLTSGSD in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_008800538 – 687Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST150

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.
CCDSiCCDS13894.1. [Q9HBE1-1]
CCDS13895.1. [Q9HBE1-3]
CCDS13896.1. [Q9HBE1-4]
CCDS46691.1. [Q9HBE1-2]
RefSeqiNP_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]
UniGeneiHs.731398.

Genome annotation databases

EnsembliENST00000215919; ENSP00000215919; ENSG00000100105. [Q9HBE1-4]
ENST00000266269; ENSP00000266269; ENSG00000100105. [Q9HBE1-1]
ENST00000351933; ENSP00000337520; ENSG00000100105. [Q9HBE1-3]
ENST00000405309; ENSP00000384173; ENSG00000100105. [Q9HBE1-2]
GeneIDi23598.
KEGGihsa:23598.
UCSCiuc003akp.4. human. [Q9HBE1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPATZ1_HUMAN
AccessioniPrimary (citable) accession number: Q9HBE1
Secondary accession number(s): Q9HBE2
, Q9HBE3, Q9P1A9, Q9UDU0, Q9Y529
Entry historyiIntegrated 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome