UniProtKB - P10074 (TZAP_HUMAN)
Protein
Telomere zinc finger-associated protein
Gene
ZBTB48
Organism
Homo sapiens (Human)
Status
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 | Graphical view | 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: GO_Central
- double-stranded telomeric DNA binding Source: UniProtKB
- identical protein binding Source: IntAct
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- telomere maintenance via telomere lengthening Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | P10074 |
Names & Taxonomyi
Protein namesi | Recommended name: Telomere zinc finger-associated protein1 PublicationShort 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 | |
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
HGNCi | HGNC:4930, ZBTB48 |
MIMi | 165270, gene |
neXtProti | NX_P10074 |
VEuPathDBi | HostDB:ENSG00000204859.11 |
Subcellular locationi
Nucleus
- Nucleus Curated
Other locations
- telomere 2 Publications
Note: Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). According to a report, preferentially binds to long telomeres that have a low concentration of shelterin complex, competing with the telomeric repeat binding factors TERF1 and TERF2 (PubMed:28082411). According to another report, binds telomeres regardless of their length (PubMed:28500257).2 Publications
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear chromatin Source: GO_Central
- nucleoplasm Source: HPA
Other locations
- chromosome, telomeric region Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Nucleus, TelomerePathology & 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
DisGeNETi | 3104 |
OpenTargetsi | ENSG00000204859 |
PharmGKBi | PA162409481 |
Miscellaneous databases
Pharosi | P10074, Tbio |
Genetic variation 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 | Graphical view | 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 conjugationProteomic databases
EPDi | P10074 |
jPOSTi | P10074 |
MassIVEi | P10074 |
MaxQBi | P10074 |
PaxDbi | P10074 |
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 testis and 184 other tissues |
ExpressionAtlasi | P10074, baseline and differential |
Genevisiblei | P10074, HS |
Organism-specific databases
HPAi | ENSG00000204859, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with EP300 (PubMed:24382891).
1 PublicationBinary interactionsi
Hide detailsP10074
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 109349, 127 interactors |
IntActi | P10074, 101 interactors |
MINTi | P10074 |
STRINGi | 9606.ENSP00000366902 |
Miscellaneous databases
RNActi | P10074, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P10074 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
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 | Graphical view | 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-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158981 |
HOGENOMi | CLU_002678_70_0_1 |
InParanoidi | P10074 |
OMAi | RERGQYC |
OrthoDBi | 1318335at2759 |
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 |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF00096, zf-C2H2, 6 hits |
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 |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5SY20 | Q5SY20_HUMAN | Telomere zinc finger-associated pro... | ZBTB48 | 310 | Annotation score: | ||
Q5SY21 | Q5SY21_HUMAN | Telomere zinc finger-associated pro... | ZBTB48 | 292 | Annotation score: | ||
K7ENV2 | K7ENV2_HUMAN | Telomere zinc finger-associated pro... | ZBTB48 | 128 | Annotation score: | ||
K7EM76 | K7EM76_HUMAN | Telomere zinc finger-associated pro... | ZBTB48 | 230 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 |
CCDSi | CCDS84.1 |
PIRi | A56360 |
RefSeqi | NP_001265576.1, NM_001278647.1 NP_001265577.1, NM_001278648.1 NP_005332.1, NM_005341.3 |
Genome annotation databases
Ensembli | ENST00000377674; ENSP00000366902; ENSG00000204859 |
GeneIDi | 3104 |
KEGGi | hsa:3104 |
UCSCi | uc001anx.5, human |
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 |
CCDSi | CCDS84.1 |
PIRi | A56360 |
RefSeqi | NP_001265576.1, NM_001278647.1 NP_001265577.1, NM_001278648.1 NP_005332.1, NM_005341.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3B84 | X-ray | 1.74 | A | 4-120 | [»] | |
5YJ3 | X-ray | 2.85 | C/D | 516-620 | [»] | |
SMRi | P10074 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109349, 127 interactors |
IntActi | P10074, 101 interactors |
MINTi | P10074 |
STRINGi | 9606.ENSP00000366902 |
PTM databases
iPTMneti | P10074 |
PhosphoSitePlusi | P10074 |
Genetic variation databases
BioMutai | ZBTB48 |
DMDMi | 1708212 |
Proteomic databases
EPDi | P10074 |
jPOSTi | P10074 |
MassIVEi | P10074 |
MaxQBi | P10074 |
PaxDbi | P10074 |
PeptideAtlasi | P10074 |
PRIDEi | P10074 |
ProteomicsDBi | 52561 |
Protocols and materials databases
Antibodypediai | 13109, 137 antibodies |
DNASUi | 3104 |
Genome annotation databases
Ensembli | ENST00000377674; ENSP00000366902; ENSG00000204859 |
GeneIDi | 3104 |
KEGGi | hsa:3104 |
UCSCi | uc001anx.5, human |
Organism-specific databases
CTDi | 3104 |
DisGeNETi | 3104 |
GeneCardsi | ZBTB48 |
HGNCi | HGNC:4930, ZBTB48 |
HPAi | ENSG00000204859, Low tissue specificity |
MIMi | 165270, gene |
neXtProti | NX_P10074 |
OpenTargetsi | ENSG00000204859 |
PharmGKBi | PA162409481 |
VEuPathDBi | HostDB:ENSG00000204859.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158981 |
HOGENOMi | CLU_002678_70_0_1 |
InParanoidi | P10074 |
OMAi | RERGQYC |
OrthoDBi | 1318335at2759 |
PhylomeDBi | P10074 |
TreeFami | TF331310 |
Enzyme and pathway databases
PathwayCommonsi | P10074 |
Miscellaneous databases
BioGRID-ORCSi | 3104, 6 hits in 896 CRISPR screens |
ChiTaRSi | ZBTB48, human |
EvolutionaryTracei | P10074 |
GenomeRNAii | 3104 |
Pharosi | P10074, Tbio |
PROi | PR:P10074 |
RNActi | P10074, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204859, Expressed in testis and 184 other tissues |
ExpressionAtlasi | P10074, baseline and differential |
Genevisiblei | P10074, HS |
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 |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF00096, zf-C2H2, 6 hits |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
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: | February 10, 2021 | |
This is version 208 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, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families