ZBTB48

Functionⁱ

Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891).4 Publications

Caution

According to a study, preferentially binds to long telomeres that have a low concentration of shelterin complex (PubMed:28082411). According to another report, binds telomeres regardless of their length (PubMed:28500257).2 Publications

Regions

Feature key	Position(s)	DescriptionActions	Length
Zinc fingerⁱ	291 – 313	C2H2-type 1PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	319 – 341	C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	350 – 372	C2H2-type 3PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	378 – 401	C2H2-type 4PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	407 – 430	C2H2-type 5PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	436 – 459	C2H2-type 6PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	465 – 487	C2H2-type 7PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	493 – 515	C2H2-type 8PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	521 – 544	C2H2-type 9PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	550 – 572	C2H2-type 10PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	578 – 600	C2H2-type 11PROSITE-ProRule annotationAdd BLAST	23

GO - Molecular functionⁱ

DNA-binding transcription factor activity
Source: ProtInc
Traceable author statementⁱ
- 8661141
double-stranded telomeric DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 28082411
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 25416956
metal ion binding Source: UniProtKB-KW
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
transcription regulatory region DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 28500257

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 28500257
telomere maintenance via telomere lengthening
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 28082411
- 28500257
transcription, DNA-templated Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, DNA-binding
Biological process	Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Telomere zinc finger-associated protein1 Publication Short name: TZAP1 Publication Alternative name(s): Krueppel-related zinc finger protein 31 Publication Short name: hKR31 Publication Zinc finger and BTB domain-containing protein 48Imported Zinc finger protein 855Imported
Gene namesⁱ	Name:ZBTB48Imported Synonyms:HKR31 Publication, TZAP1 Publication, ZNF855Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000204859.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4930 ZBTB48
MIMⁱ	165270 gene
neXtProtⁱ	NX_P10074

Keywords - Cellular componentⁱ

Chromosome, Nucleus, Telomere

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	596	H → A: Abolishes binding to the telomeric double-stranded 5'-TTAGGG-3' repeat. 1 Publication		1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3104
Open Targets More...OpenTargetsⁱ	ENSG00000204859
PharmGKBⁱ	PA162409481

Polymorphism and mutation databases

BioMutaⁱ	ZBTB48
DMDMⁱ	1708212

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000047272	1 – 688	Telomere zinc finger-associated proteinAdd BLAST		688

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Cross-linkⁱ	143	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	169	PhosphoserineCombined sources	1
Modified residueⁱ	171	PhosphoserineCombined sources	1
Modified residueⁱ	179	PhosphoserineCombined sources	1
Cross-linkⁱ	263	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	P10074
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P10074
PaxDbⁱ	P10074
PeptideAtlas More...PeptideAtlasⁱ	P10074
PRIDEⁱ	P10074
ProteomicsDBⁱ	52561

PTM databases

iPTMnetⁱ	P10074
PhosphoSitePlusⁱ	P10074

Expressionⁱ

Tissue specificityⁱ

Detected in adrenal gland and neuroblastoma.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000204859 Expressed in 169 organ(s), highest expression level in testis
CleanExⁱ	HS_ZBTB48
ExpressionAtlasⁱ	P10074 baseline and differential
Genevisibleⁱ	P10074 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA030417

HPAⁱ

HPA030417

Interactionⁱ

Subunit structureⁱ

Interacts with EP300 (PubMed:24382891).1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		3	EBI-744864,EBI-744864
DVL3	Q92997	3	EBI-744864,EBI-739789
GPATCH2L	Q9NWQ4	3	EBI-744864,EBI-5666657
KRTAP10-5	P60370	3	EBI-744864,EBI-10172150
NME7	Q9Y5B8	5	EBI-744864,EBI-744782
TRIM41	Q8WV44	3	EBI-744864,EBI-725997
ZBTB8A	Q96BR9	6	EBI-744864,EBI-742740
ZNF408	Q9H9D4	4	EBI-744864,EBI-347633

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 25416956

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	109349, 106 interactors
IntActⁱ	P10074, 35 interactors
Molecular INTeraction database More...MINTⁱ	P10074
STRINGⁱ	9606.ENSP00000366902

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	5 – 22	Combined sources	18
Beta strandⁱ	28 – 32	Combined sources	5
Beta strandⁱ	35 – 39	Combined sources	5
Helixⁱ	41 – 47	Combined sources	7
Helixⁱ	49 – 55	Combined sources	7
Turnⁱ	56 – 59	Combined sources	4
Beta strandⁱ	63 – 65	Combined sources	3
Helixⁱ	67 – 69	Combined sources	3
Helixⁱ	70 – 82	Combined sources	13
Turnⁱ	89 – 91	Combined sources	3
Helixⁱ	92 – 101	Combined sources	10
Helixⁱ	105 – 113	Combined sources	9
Beta strandⁱ	553 – 555	Combined sources	3
Beta strandⁱ	558 – 562	Combined sources	5
Helixⁱ	563 – 570	Combined sources	8
Turnⁱ	581 – 583	Combined sources	3
Beta strandⁱ	586 – 589	Combined sources	4
Helixⁱ	590 – 600	Combined sources	11

Show more details

3D structure databases

ProteinModelPortalⁱ	P10074
SMRⁱ	P10074
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P10074

EvolutionaryTraceⁱ

P10074

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	26 – 89	BTBPROSITE-ProRule annotationAdd BLAST		64

Domainⁱ

The C2H2-type zinc fingers mediate binding to the telomeric double-stranded 5'-TTAGGG-3' repeats (PubMed:28082411). The last C2H2-type zinc finger is required for telomeric-binding (PubMed:28500257).2 Publications

Sequence similaritiesⁱ

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

Zinc finger

Feature key	Position(s)	DescriptionActions	Length
Zinc fingerⁱ	291 – 313	C2H2-type 1PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	319 – 341	C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	350 – 372	C2H2-type 3PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	378 – 401	C2H2-type 4PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	407 – 430	C2H2-type 5PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	436 – 459	C2H2-type 6PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	465 – 487	C2H2-type 7PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	493 – 515	C2H2-type 8PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	521 – 544	C2H2-type 9PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	550 – 572	C2H2-type 10PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	578 – 600	C2H2-type 11PROSITE-ProRule annotationAdd BLAST	23

Keywords - Domainⁱ

Repeat, Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144160
HOGENOMⁱ	HOG000049146
HOVERGENⁱ	HBG000087
InParanoidⁱ	P10074
KEGG Orthology (KO) More...KOⁱ	K10519
OMAⁱ	NVIRKPC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G02KC
PhylomeDBⁱ	P10074
TreeFamⁱ	TF331310

Family and domain databases

InterProⁱ	View protein in InterPro IPR000210 BTB/POZ_dom 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
SMARTⁱ	View protein in SMART SM00225 BTB, 1 hit SM00355 ZnF_C2H2, 11 hits
SUPFAMⁱ	SSF54695 SSF54695, 1 hit SSF57667 SSF57667, 6 hits
PROSITEⁱ	View protein in PROSITE PS50097 BTB, 1 hit PS00028 ZINC_FINGER_C2H2_1, 9 hits PS50157 ZINC_FINGER_C2H2_2, 11 hits

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.ⁱShow all

P10074-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MDGSFVQHSV RVLQELNKQR EKGQYCDATL DVGGLVFKAH WSVLACCSHF 
        60         70         80         90        100
FQSLYGDGSG GSVVLPAGFA EIFGLLLDFF YTGHLALTSG NRDQVLLAAR 
       110        120        130        140        150
ELRVPEAVEL CQSFKPKTSV GQAAGGQSGL GPPASQNVNS HVKEPAGLEE 
       160        170        180        190        200
EEVSRTLGLV PRDQEPRGSH SPQRPQLHSP AQSEGPSSLC GKLKQALKPC 
       210        220        230        240        250
PLEDKKPEDC KVPPRPLEAE GAQLQGGSNE WEVVVQVEDD GDGDYMSEPE 
       260        270        280        290        300
AVLTRRKSNV IRKPCAAEPA LSAGSLAAEP AENRKGTAVP VECPTCHKKF 
       310        320        330        340        350
LSKYYLKVHN RKHTGEKPFE CPKCGKCYFR KENLLEHEAR NCMNRSEQVF 
       360        370        380        390        400
TCSVCQETFR RRMELRVHMV SHTGEMPYKC SSCSQQFMQK KDLQSHMIKL 
       410        420        430        440        450
HGAPKPHACP TCAKCFLSRT ELQLHEAFKH RGEKLFVCEE CGHRASSRNG 
       460        470        480        490        500
LQMHIKAKHR NERPHVCEFC SHAFTQKANL NMHLRTHTGE KPFQCHLCGK 
       510        520        530        540        550
TFRTQASLDK HNRTHTGERP FSCEFCEQRF TEKGPLLRHV ASRHQEGRPH 
       560        570        580        590        600
FCQICGKTFK AVEQLRVHVR RHKGVRKFEC TECGYKFTRQ AHLRRHMEIH 
       610        620        630        640        650
DRVENYNPRQ RKLRNLIIED EKMVVVALQP PAELEVGSAE VIVESLAQGG 
       660        670        680 
LASQLPGQRL CAEESFTGPG VLEPSLIITA AVPEDCDT

Length:688

Mass (Da):77,054

Last modified:October 1, 1996 - v2

Checksum:ⁱEBECCE3D6CBBD524

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
Q5SY20	Q5SY20_HUMAN	Telomere zinc finger-associated pro... Telomere zinc finger-associated protein	ZBTB48	310	Annotation score:
Q5SY21	Q5SY21_HUMAN	Telomere zinc finger-associated pro... Telomere zinc finger-associated protein	ZBTB48	292	Annotation score:
K7EM76	K7EM76_HUMAN	Telomere zinc finger-associated pro... Telomere zinc finger-associated protein	ZBTB48	230	Annotation score:
K7ENV2	K7ENV2_HUMAN	Telomere zinc finger-associated pro... Telomere zinc finger-associated protein	ZBTB48	128	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	201	P → S in AAA65124 (PubMed:7969177).Curated	1
Sequence conflictⁱ	244	D → S in AAA65124 (PubMed:7969177).Curated	1
Sequence conflictⁱ	350 – 351	FT → LP in AAA65124 (PubMed:7969177).Curated	2
Sequence conflictⁱ	607	N → K in AAA65124 (PubMed:7969177).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_052925	675	S → A. Corresponds to variant dbSNP:rs2229330Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L16896 mRNA Translation: AAA65124.1 U45325, U45324 Genomic DNA Translation: AAB08973.1 AL591866 Genomic DNA No translation available. BC013573 mRNA Translation: AAH13573.1 M20677 Genomic DNA Translation: AAA35989.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS84.1
PIRⁱ	A56360
NCBI Reference Sequences More...RefSeqⁱ	NP_001265576.1, NM_001278647.1 NP_001265577.1, NM_001278648.1 NP_005332.1, NM_005341.3
UniGeneⁱ	Hs.502330

Genome annotation databases

Ensemblⁱ	ENST00000377674; ENSP00000366902; ENSG00000204859
GeneIDⁱ	3104
KEGGⁱ	hsa:3104
UCSC genome browser More...UCSCⁱ	uc001anx.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P10074	Telomere zinc finger-associated protein (Fragment)		HUMAN		230	UniRef100_P10074
ZBTB48 isoform 6 (Fragment)		PANTR		230
Telomere zinc finger-associated protein (Fragment)		HUMAN		310
Telomere zinc finger-associated protein (Fragment)		HUMAN		292
HKR3 protein		HUMAN		443
+1

Protein	Similar proteins		Species	Score	Length	Source
P10074	Telomere zinc finger-associated protein		PONAB		688	UniRef90_P10074
Telomere zinc finger-associated protein (Fragment)		HUMAN		230
ZBTB48 isoform 6 (Fragment)		PANTR		230
Zinc finger and BTB domain containing 48		RHIBE		813
telomere zinc finger-associated protein		Enhydra lutris kenyoni		704
+114

Protein	Similar proteins		Species	Score	Length	Source
P10074	Telomere zinc finger-associated protein		PONAB		688	UniRef50_P10074
Telomere zinc finger-associated protein (Fragment)		HUMAN		230
ZBTB48 isoform 6 (Fragment)		PANTR		230
Zinc finger and BTB domain containing 48		RHIBE		813
telomere zinc finger-associated protein		Enhydra lutris kenyoni		704
+127

Entry informationⁱ

Entry nameⁱ	TZAP_HUMAN
Accessionⁱ	P10074Primary (citable) accession number: P10074 Secondary accession number(s): Q5SY19
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
	Last sequence update:	October 1, 1996
	Last modified:	September 12, 2018
	This is version 191 of the entry and version 2 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P10074 (TZAP_HUMAN)

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Telomere zinc finger-associated protein

Select a section on the left to see content.

<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

Caution

Regions

<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>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

Organism-specific databases

<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

Nucleus

Other locations

Cytosol

Nucleus

Other locations

Keywords - Cellular componenti

<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

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ