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Entry version 184 (07 Oct 2020)
Sequence version 1 (01 Mar 2001)
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Protein

POZ-, AT hook-, and zinc finger-containing protein 1

Gene

PATZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional repressor.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi264 – 276A.T hookAdd BLAST13
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9HBE1

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9HBE1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PATZ1
Synonyms:PATZ, RIAZ, ZBTB19, ZNF278, ZSG
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100105.17

Human Gene Nomenclature Database

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HGNCi
HGNC:13071, PATZ1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605165, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9HBE1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
23598

Open Targets

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OpenTargetsi
ENSG00000100105

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162398806

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HBE1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PATZ1

Domain mapping of disease mutations (DMDM)

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DMDMi
38258840

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000475041 – 687POZ-, AT hook-, and zinc finger-containing protein 1Add BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei282PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HBE1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HBE1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HBE1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HBE1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9HBE1

PeptideAtlas

More...
PeptideAtlasi
Q9HBE1

PRoteomics IDEntifications database

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PRIDEi
Q9HBE1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81529 [Q9HBE1-1]
81530 [Q9HBE1-2]
81531 [Q9HBE1-3]
81532 [Q9HBE1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HBE1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HBE1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100105, Expressed in oviduct epithelium and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HBE1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HBE1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100105, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RNF4.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Isoform 4 [Q9HBE1-4]
With#Exp.IntAct
ABHD11 - isoform 4 [Q8NFV4-4]3EBI-11022007,EBI-12318443
AKAP8L [Q9ULX6]3EBI-11022007,EBI-357530
ANKRD10 - isoform 2 [Q9NXR5-2]3EBI-11022007,EBI-12102070
BOLL - isoform 4 [Q8N9W6-4]3EBI-11022007,EBI-11983447
BPIFA1 [Q9NP55]3EBI-11022007,EBI-953896
C11orf1 [Q9H5F2]3EBI-11022007,EBI-718615
C19orf54 - isoform 3 [Q5BKX5-3]3EBI-11022007,EBI-11976299
CCDC120 [Q96HB5]3EBI-11022007,EBI-744556
CEP76 [Q8TAP6]3EBI-11022007,EBI-742887
CPSF7 - isoform 3 [Q8N684-3]3EBI-11022007,EBI-11523759
CYSRT1 [A8MQ03]3EBI-11022007,EBI-3867333
DAZAP2 [Q15038]3EBI-11022007,EBI-724310
DVL3 [Q92997]3EBI-11022007,EBI-739789
EYA2 - isoform 2 [O00167-2]3EBI-11022007,EBI-12807776
FAM168A - isoform 2 [Q92567-2]3EBI-11022007,EBI-11978259
FAM168B - isoform 2 [A1KXE4-2]3EBI-11022007,EBI-12193763
GOLGA6L9 [A6NEM1]3EBI-11022007,EBI-5916454
GPANK1 [O95872]3EBI-11022007,EBI-751540
HNRNPF [P52597]3EBI-11022007,EBI-352986
HNRNPH1 [P31943]6EBI-11022007,EBI-351590
HSPB2 [Q16082]3EBI-11022007,EBI-739395
IQUB [Q8NA54]3EBI-11022007,EBI-10220600
KLF1 [Q13351]3EBI-11022007,EBI-8284732
KLHDC7B [Q96G42]3EBI-11022007,EBI-9478422
KRT33B [Q14525]3EBI-11022007,EBI-1049638
KRTAP12-2 [P59991]3EBI-11022007,EBI-10176379
KRTAP13-2 [Q52LG2]3EBI-11022007,EBI-11953846
KRTAP15-1 [Q3LI76]5EBI-11022007,EBI-11992140
KRTAP19-1 [Q8IUB9]3EBI-11022007,EBI-12811111
KRTAP19-5 [Q3LI72]5EBI-11022007,EBI-1048945
KRTAP19-6 [Q3LI70]3EBI-11022007,EBI-12805508
KRTAP19-7 [Q3SYF9]3EBI-11022007,EBI-10241353
KRTAP3-1 [Q9BYR8]3EBI-11022007,EBI-9996449
KRTAP3-3 [Q9BYR6]3EBI-11022007,EBI-3957694
KRTAP6-1 [Q3LI64]3EBI-11022007,EBI-12111050
KRTAP6-2 [Q3LI66]3EBI-11022007,EBI-11962084
LMO2 - isoform 3 [P25791-3]3EBI-11022007,EBI-11959475
LONRF1 [Q17RB8]3EBI-11022007,EBI-2341787
LURAP1L [Q8IV03]3EBI-11022007,EBI-12898559
LZTS2 [Q9BRK4]3EBI-11022007,EBI-741037
MDFI [Q99750]3EBI-11022007,EBI-724076
MSX2 [P35548]3EBI-11022007,EBI-6447480
NFKBID [Q8NI38]3EBI-11022007,EBI-10271199
NHLRC4 [P0CG21]3EBI-11022007,EBI-12868744
OIP5 [O43482]3EBI-11022007,EBI-536879
PFDN5 [Q99471]3EBI-11022007,EBI-357275
PHF1 [O43189]3EBI-11022007,EBI-530034
PPP1R16B [Q96T49]3EBI-11022007,EBI-10293968
PPP1R37 [O75864]3EBI-11022007,EBI-5235692
PRDM14 [Q9GZV8]3EBI-11022007,EBI-3957793
PRDM6 [Q9NQX0]3EBI-11022007,EBI-11320284
PRR20D [P86480]3EBI-11022007,EBI-12754095
RBM10 [P98175]3EBI-11022007,EBI-721525
RBPMS - isoform C [Q93062-3]6EBI-11022007,EBI-740343
RBPMS2 [Q6ZRY4]3EBI-11022007,EBI-11987469
RFX6 [Q8HWS3]3EBI-11022007,EBI-746118
RIPPLY1 [Q0D2K3]3EBI-11022007,EBI-10226430
SLAIN1 [Q8ND83]3EBI-11022007,EBI-10269374
SMUG1 - isoform 2 [Q53HV7-2]3EBI-11022007,EBI-12275818
SMYD1 [Q8NB12]3EBI-11022007,EBI-8463848
SPAG8 - isoform 2 [Q99932-2]3EBI-11022007,EBI-11959123
TLE5 - isoform 2 [Q08117-2]5EBI-11022007,EBI-11741437
TNS2 [Q63HR2]3EBI-11022007,EBI-949753
TRAF1 [Q13077]3EBI-11022007,EBI-359224
TRAF2 [Q12933]3EBI-11022007,EBI-355744
TRIP6 [Q15654]3EBI-11022007,EBI-742327
TSC1 [Q86WV8]3EBI-11022007,EBI-12806590
WWOX - isoform 5 [Q9NZC7-5]5EBI-11022007,EBI-12040603
WWP2 [O00308]3EBI-11022007,EBI-743923
ZBTB32 [A0A0C4DGF1]3EBI-11022007,EBI-10188476
ZIC1 [Q15915]3EBI-11022007,EBI-11963196
ZIM2 [Q9NZV7]3EBI-11022007,EBI-11962760
G4XUV33EBI-11022007,EBI-10177989

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
117133, 121 interactors

Protein interaction database and analysis system

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IntActi
Q9HBE1, 94 interactors

Molecular INTeraction database

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MINTi
Q9HBE1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000266269

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HBE1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1687
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...
BMRBi
Q9HBE1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9HBE1

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HBE1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini41 – 130BTBPROSITE-ProRule annotationAdd BLAST90

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1721, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159296

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_030477_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HBE1

Identification of Orthologs from Complete Genome Data

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OMAi
QVACDIC

Database of Orthologous Groups

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OrthoDBi
1318335at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HBE1

TreeFam database of animal gene trees

More...
TreeFami
TF331686

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00651, BTB, 1 hit
PF00096, zf-C2H2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00225, BTB, 1 hit
SM00355, ZnF_C2H2, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54695, SSF54695, 1 hit
SSF57667, SSF57667, 4 hits

PROSITE; a protein domain and family database

More...
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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052724685E → D. Corresponds to variant dbSNP:rs2240424Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13894.1 [Q9HBE1-1]
CCDS13895.1 [Q9HBE1-3]
CCDS13896.1 [Q9HBE1-4]
CCDS46691.1 [Q9HBE1-2]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000215919; ENSP00000215919; ENSG00000100105 [Q9HBE1-4]
ENST00000266269; ENSP00000266269; ENSG00000100105 [Q9HBE1-1]
ENST00000351933; ENSP00000337520; ENSG00000100105 [Q9HBE1-3]
ENST00000405309; ENSP00000384173; ENSG00000100105 [Q9HBE1-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23598

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23598

UCSC genome browser

More...
UCSCi
uc003akp.4, human [Q9HBE1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EPPNMR-A286-338[»]
2EPQNMR-A380-411[»]
2EPRNMR-A350-384[»]
2EPSNMR-A408-445[»]
2YT9NMR-A355-436[»]
BMRBiQ9HBE1
SMRiQ9HBE1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117133, 121 interactors
IntActiQ9HBE1, 94 interactors
MINTiQ9HBE1
STRINGi9606.ENSP00000266269

PTM databases

iPTMnetiQ9HBE1
PhosphoSitePlusiQ9HBE1

Polymorphism and mutation databases

BioMutaiPATZ1
DMDMi38258840

Proteomic databases

EPDiQ9HBE1
jPOSTiQ9HBE1
MassIVEiQ9HBE1
MaxQBiQ9HBE1
PaxDbiQ9HBE1
PeptideAtlasiQ9HBE1
PRIDEiQ9HBE1
ProteomicsDBi81529 [Q9HBE1-1]
81530 [Q9HBE1-2]
81531 [Q9HBE1-3]
81532 [Q9HBE1-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
25019, 166 antibodies

The DNASU plasmid repository

More...
DNASUi
23598

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23598
DisGeNETi23598
EuPathDBiHostDB:ENSG00000100105.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PATZ1
HGNCiHGNC:13071, PATZ1
HPAiENSG00000100105, Low tissue specificity
MIMi605165, gene
neXtProtiNX_Q9HBE1
OpenTargetsiENSG00000100105
PharmGKBiPA162398806

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000159296
HOGENOMiCLU_030477_1_0_1
InParanoidiQ9HBE1
OMAiQVACDIC
OrthoDBi1318335at2759
PhylomeDBiQ9HBE1
TreeFamiTF331686

Enzyme and pathway databases

PathwayCommonsiQ9HBE1
SIGNORiQ9HBE1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23598, 17 hits in 895 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PATZ1, human
EvolutionaryTraceiQ9HBE1

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PATZ1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23598
PharosiQ9HBE1, Tbio

Protein Ontology

More...
PROi
PR:Q9HBE1
RNActiQ9HBE1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100105, Expressed in oviduct epithelium and 233 other tissues
ExpressionAtlasiQ9HBE1, baseline and differential
GenevisibleiQ9HBE1, HS

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
PF00096, zf-C2H2, 4 hits
SMARTiView protein in SMART
SM00225, BTB, 1 hit
SM00355, ZnF_C2H2, 8 hits
SUPFAMiSSF54695, SSF54695, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPATZ1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HBE1
Secondary accession number(s): Q9HBE2
, Q9HBE3, Q9P1A9, Q9UDU0, Q9Y529
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 1, 2001
Last modified: October 7, 2020
This is version 184 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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