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Protein

Telomere zinc finger-associated protein

Gene

ZBTB48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

  • double-stranded telomeric DNA binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • telomere maintenance via telomere lengthening Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

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

HGNCiHGNC:4930. ZBTB48.

Subcellular locationi

GO - Cellular componenti

  • chromosome, telomeric region Source: UniProtKB
  • cytosol Source: HPA
  • nucleoplasm Source: HPA

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
Modified residuei169PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei179PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP10074.
MaxQBiP10074.
PaxDbiP10074.
PeptideAtlasiP10074.
PRIDEiP10074.

PTM databases

iPTMnetiP10074.
PhosphoSitePlusiP10074.

Expressioni

Tissue specificityi

Detected in adrenal gland and neuroblastoma.1 Publication

Gene expression databases

BgeeiENSG00000204859.
CleanExiHS_ZBTB48.
ExpressionAtlasiP10074. baseline and differential.
GenevisibleiP10074. HS.

Organism-specific databases

HPAiHPA030417.

Interactioni

Subunit structurei

Interacts with EP300 (PubMed:24382891).1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi109349. 95 interactors.
IntActiP10074. 33 interactors.
MINTiMINT-8247379.
STRINGi9606.ENSP00000366902.

Structurei

Secondary structure

1688
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 22Combined sources18
Beta strandi28 – 32Combined sources5
Beta strandi35 – 39Combined sources5
Helixi41 – 47Combined sources7
Helixi49 – 55Combined sources7
Turni56 – 59Combined sources4
Beta strandi63 – 65Combined sources3
Helixi67 – 69Combined sources3
Helixi70 – 82Combined sources13
Turni89 – 91Combined sources3
Helixi92 – 101Combined sources10
Helixi105 – 113Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3B84X-ray1.74A4-120[»]
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.
GeneTreeiENSGT00880000137936.
HOGENOMiHOG000049146.
HOVERGENiHBG000087.
InParanoidiP10074.
KOiK10519.
OMAiNVIRKPC.
OrthoDBiEOG091G02KC.
PhylomeDBiP10074.
TreeFamiTF331310.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR013087. Znf_C2H2_type.
IPR013083. Znf_RING/FYVE/PHD.
PfamiView protein in Pfam
PF00651. BTB. 1 hit.
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.

Sequencei

Sequence statusi: Complete.

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

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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: July 5, 2017
This is version 180 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

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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