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Protein

Telomere zinc finger-associated protein

Gene

ZBTB48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri291 – 313C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri319 – 341C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 401C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri407 – 430C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri436 – 459C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri465 – 487C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri493 – 515C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri521 – 544C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri550 – 572C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri578 – 600C2H2-type 11PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

  • DNA-binding transcription factor activity Source: ProtInc
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • double-stranded telomeric DNA binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • telomere maintenance via telomere lengthening Source: UniProtKB

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000204859.11
HGNCiHGNC:4930 ZBTB48
MIMi165270 gene
neXtProtiNX_P10074

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

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi596H → A: Abolishes binding to the telomeric double-stranded 5'-TTAGGG-3' repeat. 1 Publication1

Organism-specific databases

DisGeNETi3104
OpenTargetsiENSG00000204859
PharmGKBiPA162409481

Polymorphism and mutation databases

BioMutaiZBTB48
DMDMi1708212

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472721 – 688Telomere zinc finger-associated proteinAdd BLAST688

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki143Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei169PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei179PhosphoserineCombined sources1
Cross-linki263Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP10074
MaxQBiP10074
PaxDbiP10074
PeptideAtlasiP10074
PRIDEiP10074
ProteomicsDBi52561

PTM databases

iPTMnetiP10074
PhosphoSitePlusiP10074

Expressioni

Tissue specificityi

Detected in adrenal gland and neuroblastoma.1 Publication

Gene expression databases

BgeeiENSG00000204859 Expressed in 169 organ(s), highest expression level in testis
CleanExiHS_ZBTB48
ExpressionAtlasiP10074 baseline and differential
GenevisibleiP10074 HS

Organism-specific databases

HPAiHPA030417

Interactioni

Subunit structurei

Interacts with EP300 (PubMed:24382891).1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109349, 106 interactors
IntActiP10074, 35 interactors
MINTiP10074
STRINGi9606.ENSP00000366902

Structurei

Secondary structure

1688
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP10074
SMRiP10074
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10074

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 89BTBPROSITE-ProRule annotationAdd BLAST64

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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri291 – 313C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri319 – 341C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 401C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri407 – 430C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri436 – 459C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri465 – 487C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri493 – 515C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri521 – 544C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri550 – 572C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri578 – 600C2H2-type 11PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000150986
HOGENOMiHOG000049146
HOVERGENiHBG000087
InParanoidiP10074
KOiK10519
OMAiGNNEWEV
OrthoDBiEOG091G02KC
PhylomeDBiP10074
TreeFamiTF331310

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 11 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 6 hits
PROSITEiView 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.Show allAlign All

P10074-1 [UniParc]FASTAAdd 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.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SY20Q5SY20_HUMAN
Telomere zinc finger-associated pro...
ZBTB48
310Annotation score:
Q5SY21Q5SY21_HUMAN
Telomere zinc finger-associated pro...
ZBTB48
292Annotation score:
K7EM76K7EM76_HUMAN
Telomere zinc finger-associated pro...
ZBTB48
230Annotation score:
K7ENV2K7ENV2_HUMAN
Telomere zinc finger-associated pro...
ZBTB48
128Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti201P → S in AAA65124 (PubMed:7969177).Curated1
Sequence conflicti244D → S in AAA65124 (PubMed:7969177).Curated1
Sequence conflicti350 – 351FT → LP in AAA65124 (PubMed:7969177).Curated2
Sequence conflicti607N → K in AAA65124 (PubMed:7969177).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052925675S → 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
CCDSiCCDS84.1
PIRiA56360
RefSeqiNP_001265576.1, NM_001278647.1
NP_001265577.1, NM_001278648.1
NP_005332.1, NM_005341.3
UniGeneiHs.502330

Genome annotation databases

EnsembliENST00000377674; ENSP00000366902; ENSG00000204859
GeneIDi3104
KEGGihsa:3104
UCSCiuc001anx.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

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
CCDSiCCDS84.1
PIRiA56360
RefSeqiNP_001265576.1, NM_001278647.1
NP_001265577.1, NM_001278648.1
NP_005332.1, NM_005341.3
UniGeneiHs.502330

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3B84X-ray1.74A4-120[»]
5YJ3X-ray2.85C/D516-620[»]
ProteinModelPortaliP10074
SMRiP10074
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109349, 106 interactors
IntActiP10074, 35 interactors
MINTiP10074
STRINGi9606.ENSP00000366902

PTM databases

iPTMnetiP10074
PhosphoSitePlusiP10074

Polymorphism and mutation databases

BioMutaiZBTB48
DMDMi1708212

Proteomic databases

EPDiP10074
MaxQBiP10074
PaxDbiP10074
PeptideAtlasiP10074
PRIDEiP10074
ProteomicsDBi52561

Protocols and materials databases

DNASUi3104
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377674; ENSP00000366902; ENSG00000204859
GeneIDi3104
KEGGihsa:3104
UCSCiuc001anx.5 human

Organism-specific databases

CTDi3104
DisGeNETi3104
EuPathDBiHostDB:ENSG00000204859.11
GeneCardsiZBTB48
HGNCiHGNC:4930 ZBTB48
HPAiHPA030417
MIMi165270 gene
neXtProtiNX_P10074
OpenTargetsiENSG00000204859
PharmGKBiPA162409481
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000150986
HOGENOMiHOG000049146
HOVERGENiHBG000087
InParanoidiP10074
KOiK10519
OMAiGNNEWEV
OrthoDBiEOG091G02KC
PhylomeDBiP10074
TreeFamiTF331310

Miscellaneous databases

ChiTaRSiZBTB48 human
EvolutionaryTraceiP10074
GenomeRNAii3104
PROiPR:P10074
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204859 Expressed in 169 organ(s), highest expression level in testis
CleanExiHS_ZBTB48
ExpressionAtlasiP10074 baseline and differential
GenevisibleiP10074 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 11 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 6 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 11 hits
ProtoNetiSearch...

Entry informationi

Entry nameiTZAP_HUMAN
AccessioniPrimary (citable) accession number: P10074
Secondary accession number(s): Q5SY19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 193 of the entry and version 2 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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